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name: Dilated Cardiomyopathy
creation_date: '2026-03-06T00:00:00Z'
updated_date: '2026-03-08T00:00:00Z'
synonyms:
- DCM
- dilated cardiomyopathy
- congestive cardiomyopathy
- IDC
- idiopathic dilated cardiomyopathy
category: Complex
disease_term:
preferred_term: dilated cardiomyopathy
term:
id: MONDO:0005021
label: dilated cardiomyopathy
parents:
- Cardiovascular Disease
- Genetic Disorder
has_subtypes:
- name: Familial Dilated Cardiomyopathy
description: Genetically inherited form of DCM, accounting for 20-50% of cases, caused by mutations in genes encoding sarcomeric, cytoskeletal, or nuclear envelope proteins.
evidence:
- reference: PMID:37788487
reference_title: "Genetics of Dilated Cardiomyopathy."
supports: SUPPORT
snippet: An estimated 40% of cases of familial DCM have an identifiable genetic cause.
explanation: Confirms that familial DCM has a significant genetic basis.
- reference: PMID:39519012
reference_title: "Dilated Cardiomyopathy: A Genetic Journey from Past to Future."
supports: SUPPORT
snippet: rapid advances in sequencing and bioinformatics have recently revealed a complex genetic spectrum ranging from monogenic to polygenic in DCM
explanation: Highlights the expanding understanding of genetic architecture in familial DCM, from monogenic to polygenic.
- name: Idiopathic Dilated Cardiomyopathy
description: DCM without identifiable genetic or secondary cause after comprehensive evaluation.
evidence:
- reference: PMID:39519012
reference_title: "Dilated Cardiomyopathy: A Genetic Journey from Past to Future."
supports: SUPPORT
snippet: Cases without an identified secondary cause are classified as idiopathic dilated cardiomyopathy (IDC).
explanation: Directly defines idiopathic DCM as lacking an identified secondary cause.
- name: Peripartum Cardiomyopathy
description: DCM occurring in the last month of pregnancy or within five months postpartum in women without prior heart disease.
evidence:
- reference: PMID:39348083
reference_title: "Peripartum cardiomyopathy: a comprehensive and contemporary review."
supports: SUPPORT
snippet: Peripartum cardiomyopathy is a type of de novo heart failure that occurs in pregnant women in the late stages of pregnancy or following delivery.
explanation: Defines peripartum cardiomyopathy as de novo heart failure in late pregnancy or postpartum.
evidence_source: HUMAN_CLINICAL
- name: Alcoholic Cardiomyopathy
description: DCM resulting from chronic excessive alcohol consumption leading to direct myocardial toxicity.
evidence:
- reference: PMID:39519012
reference_title: "Dilated Cardiomyopathy: A Genetic Journey from Past to Future."
supports: SUPPORT
snippet: These advances have also led to the discovery of causal and modifier genetic variants in secondary forms of DCM (e.g., alcohol-induced cardiomyopathy).
explanation: Confirms that alcohol-induced cardiomyopathy is a recognized secondary form of DCM.
- name: Tachycardia-Induced Cardiomyopathy
description: DCM caused by sustained tachyarrhythmias that is potentially reversible with rate or rhythm control.
evidence:
- reference: PMID:39959626
reference_title: "Tachycardia-Induced Cardiomyopathy: A Case Series and a Literature Review."
supports: SUPPORT
snippet: Tachycardia-induced cardiomyopathy (TIC), also known as arrhythmia-induced cardiomyopathy or tachycardiomyopathy, is a reversible form of heart failure characterized by persistent tachyarrhythmias and associated ventricular dysfunction.
explanation: Defines TIC as a reversible form of heart failure caused by persistent tachyarrhythmias.
evidence_source: HUMAN_CLINICAL
pathophysiology:
- name: Sarcomeric and Cytoskeletal Dysfunction
description: >
Mutations in genes encoding sarcomeric proteins (e.g., TTN, MYH7, TNNT2)
and cytoskeletal proteins (e.g., DES, LMNA) disrupt force generation and
transmission within cardiomyocytes, leading to impaired contractility and
progressive ventricular dilation. Truncating variants in TTN are the most
common genetic cause, found in approximately 15% of familial DCM cases.
cell_types:
- preferred_term: cardiomyocyte
term:
id: CL:0000746
label: cardiac muscle cell
biological_processes:
- preferred_term: cardiac muscle contraction
term:
id: GO:0060048
label: cardiac muscle contraction
evidence:
- reference: PMID:37962957
reference_title: "Truncated titin is structurally integrated into the human dilated cardiomyopathic sarcomere."
supports: SUPPORT
snippet: Heterozygous (HET) truncating variant mutations in the TTN gene (TTNtvs), encoding the giant titin protein, are the most common genetic cause of dilated cardiomyopathy (DCM).
explanation: Confirms TTN truncating variants as the most common genetic cause of DCM.
- reference: PMID:37962957
reference_title: "Truncated titin is structurally integrated into the human dilated cardiomyopathic sarcomere."
supports: SUPPORT
snippet: The occurrence of TTNtv was found to be 15% in the DCM cohort.
explanation: Provides the 15% frequency of TTNtv in a DCM cohort.
- reference: PMID:37788487
reference_title: "Genetics of Dilated Cardiomyopathy."
supports: SUPPORT
snippet: Many gene mutations have been identified that contribute to phenotypically significant cardiomyopathy. DCM genes can affect a variety of cardiomyocyte functions, and particular genes whose function affects the cell-cell junction and cytoskeleton are associated with increased risk of arrhythmias and sudden cardiac death.
explanation: Confirms that DCM genes affect cardiomyocyte functions including cytoskeletal integrity.
- name: Neurohormonal Activation
description: >
Reduced cardiac output activates the renin-angiotensin-aldosterone system
and sympathetic nervous system, causing vasoconstriction, sodium and water
retention, and further myocardial stress. Chronic neurohormonal activation
promotes adverse cardiac remodeling.
biological_processes:
- preferred_term: renin-angiotensin regulation of aldosterone production
term:
id: GO:0002018
label: renin-angiotensin regulation of aldosterone production
evidence:
- reference: PMID:37254024
reference_title: "Guideline-Directed Medical Therapy for the Treatment of Heart Failure with Reduced Ejection Fraction."
supports: SUPPORT
snippet: "renin-angiotensin system inhibitors, evidence-based β-blockers, mineralocorticoid inhibitors and sodium glucose cotransporter 2 inhibitors"
explanation: Confirms that neurohormonal blockade targeting the renin-angiotensin and sympathetic systems is the cornerstone of HFrEF therapy, validating neurohormonal activation as a key pathophysiological mechanism.
evidence_source: HUMAN_CLINICAL
- reference: PMID:33250269
reference_title: "New treatment for myocardial diseases."
supports: SUPPORT
snippet: "Treatment of myocardial diseases with renin-angiotensin system inhibitors and β-blockers has greatly contributed to improving prognosis."
explanation: Confirms the therapeutic importance of targeting neurohormonal activation in myocardial diseases including DCM.
evidence_source: HUMAN_CLINICAL
- name: Myocardial Fibrosis
description: >
Progressive replacement and interstitial fibrosis within the ventricular
myocardium impairs diastolic filling, increases myocardial stiffness, and
creates substrates for re-entrant arrhythmias. Late gadolinium enhancement
on cardiac MRI is a strong predictor of adverse outcomes.
cell_types:
- preferred_term: cardiac fibroblast
term:
id: CL:0002548
label: fibroblast of cardiac tissue
biological_processes:
- preferred_term: extracellular matrix organization
term:
id: GO:0030198
label: extracellular matrix organization
evidence:
- reference: PMID:39298146
reference_title: "Risk Stratification in Nonischemic Dilated Cardiomyopathy Using CMR Imaging: A Systematic Review and Meta-Analysis."
supports: SUPPORT
snippet: The presence and extent of LGE were associated with various adverse clinical outcomes, whereas LVEF was not significantly associated with mortality and arrhythmic end points in NIDCM.
explanation: Demonstrates the prognostic significance of myocardial fibrosis (detected as LGE) in nonischemic DCM.
evidence_source: HUMAN_CLINICAL
- name: RNA Splicing Dysregulation
description: >
Pathogenic variants in RBM20 disrupt alternative splicing of key cardiac genes
including TTN and calcium-handling genes (CAMK2D, CACNA1C), leading to altered
titin isoform expression and impaired excitation-contraction coupling. Some
RBM20 variants also form toxic biomolecular condensates in the sarcoplasm.
cell_types:
- preferred_term: cardiomyocyte
term:
id: CL:0000746
label: cardiac muscle cell
evidence:
- reference: PMID:38288598
reference_title: "Mechanisms of RBM20 Cardiomyopathy: Insights From Model Systems."
supports: SUPPORT
snippet: pathogenic variants in RBM20 are linked to aggressive dilated cardiomyopathy with early onset heart failure and high mortality.
explanation: Confirms RBM20 variants cause aggressive DCM with poor outcomes.
- name: Immune and Inflammatory Activation
description: >
Immune-mediated injury from viral myocarditis or autoimmune reactions can
trigger or accelerate DCM progression. Chronic cardiac inflammation with
distinct immune cell infiltration patterns contributes to adverse remodeling.
cell_types:
- preferred_term: cardiomyocyte
term:
id: CL:0000746
label: cardiac muscle cell
evidence:
- reference: PMID:38321374
reference_title: "Construction and evaluation of immune-related diagnostic model in patients with heart failure caused by idiopathic dilated cardiomyopathy."
supports: SUPPORT
snippet: Our study demonstrated the obvious different ratio of T cell CD4 memory activated, T cell regulatory Tregs, and neutrophils between DCM and control donors.
explanation: Demonstrates altered immune cell infiltration patterns in DCM hearts.
evidence_source: COMPUTATIONAL
- name: Polygenic Risk and Common Variant Burden
description: >
Large-scale genome-wide association studies have identified dozens of loci
associated with DCM, highlighting the role of common genetic variation in
disease susceptibility. Enrichment analyses confirm the central role of the
cardiomyocyte and contractile apparatus.
evidence:
- reference: PMID:39572784
reference_title: "Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience."
supports: SUPPORT
snippet: We identify 70 genome-wide significant loci, which show broad replication in independent samples and map to 63 prioritized genes. Tissue, cell type and pathway enrichment analyses highlight the central role of the cardiomyocyte and contractile apparatus in DCM pathogenesis.
explanation: GWAS meta-analysis identifies 70 loci and confirms cardiomyocyte/contractile apparatus enrichment in DCM.
evidence_source: HUMAN_CLINICAL
- reference: PMID:39572783
reference_title: "Genome-wide association analysis provides insights into the molecular etiology of dilated cardiomyopathy."
supports: SUPPORT
snippet: We demonstrate that polygenic scores predict DCM in the general population and modify penetrance in carriers of rare DCM variants.
explanation: Demonstrates that common variant polygenic scores predict DCM risk and modify penetrance of rare pathogenic variants.
evidence_source: HUMAN_CLINICAL
- name: Mitochondrial Dysfunction
description: >
Impaired mitochondrial energy production, increased oxidative stress, and
defective mitochondrial quality control contribute to cardiomyocyte injury
and contractile failure in DCM. Disruption of mitochondrial protein
homeostasis can drive disease progression.
cell_types:
- preferred_term: cardiomyocyte
term:
id: CL:0000746
label: cardiac muscle cell
biological_processes:
- preferred_term: mitochondrion organization
term:
id: GO:0007005
label: mitochondrion organization
evidence:
- reference: PMID:35418250
reference_title: "Mitochondrial Sirtuin-3 (SIRT3) Prevents Doxorubicin-Induced Dilated Cardiomyopathy by Modulating Protein Acetylation and Oxidative Stress."
supports: SUPPORT
snippet: Doxorubicin reduced SIRT3 expression and markedly affected the cardiac mitochondrial acetylome. Increased M1-SIRT3 expression in vivo prevented doxorubicin-induced cardiac dysfunction
explanation: Demonstrates that mitochondrial protein acetylation dysregulation drives dilated cardiomyopathy and that restoring mitochondrial deacetylase function prevents cardiac dysfunction.
evidence_source: MODEL_ORGANISM
phenotypes:
- category: Cardiovascular
name: Dilated cardiomyopathy
frequency: VERY_FREQUENT
diagnostic: true
phenotype_term:
preferred_term: Dilated cardiomyopathy
term:
id: HP:0001644
label: Dilated cardiomyopathy
evidence:
- reference: PMID:39298146
reference_title: "Risk Stratification in Nonischemic Dilated Cardiomyopathy Using CMR Imaging: A Systematic Review and Meta-Analysis."
supports: SUPPORT
snippet: Accurate risk stratification of nonischemic dilated cardiomyopathy (NIDCM) remains challenging.
explanation: Confirms DCM as the defining phenotype.
evidence_source: HUMAN_CLINICAL
- category: Cardiovascular
name: Congestive heart failure
frequency: VERY_FREQUENT
phenotype_term:
preferred_term: Congestive heart failure
term:
id: HP:0001635
label: Congestive heart failure
evidence:
- reference: PMID:39519012
reference_title: "Dilated Cardiomyopathy: A Genetic Journey from Past to Future."
supports: SUPPORT
snippet: Dilated cardiomyopathy (DCM) is characterized by reduced systolic function and cardiac dilation.
explanation: Reduced systolic function leads to heart failure as a primary manifestation.
- reference: PMID:38966492
reference_title: "Pediatric dilated cardiomyopathy: a review of current clinical approaches and pathogenesis."
supports: SUPPORT
snippet: Pediatric dilated cardiomyopathy (DCM) is a rare, yet life-threatening cardiovascular condition characterized by systolic dysfunction with biventricular dilatation and reduced myocardial contractility
explanation: Confirms systolic dysfunction and reduced contractility as hallmarks of DCM leading to heart failure.
evidence_source: HUMAN_CLINICAL
- category: Cardiovascular
name: Left ventricular systolic dysfunction
frequency: VERY_FREQUENT
diagnostic: true
phenotype_term:
preferred_term: Left ventricular systolic dysfunction
term:
id: HP:0025169
label: Left ventricular systolic dysfunction
evidence:
- reference: PMID:39298146
reference_title: "Risk Stratification in Nonischemic Dilated Cardiomyopathy Using CMR Imaging: A Systematic Review and Meta-Analysis."
supports: SUPPORT
snippet: Left ventricular ejection fraction (LVEF) (per 1%) was not associated with all-cause mortality
explanation: While LVEF is the standard measure of LV systolic dysfunction in DCM, this study shows it is less prognostic than fibrosis markers.
evidence_source: HUMAN_CLINICAL
- category: Respiratory
name: Dyspnea
frequency: VERY_FREQUENT
phenotype_term:
preferred_term: Dyspnea
term:
id: HP:0002094
label: Dyspnea
- category: Cardiovascular
name: Palpitations
frequency: FREQUENT
phenotype_term:
preferred_term: Palpitations
term:
id: HP:0001962
label: Palpitations
- category: Cardiovascular
name: Arrhythmia
frequency: FREQUENT
phenotype_term:
preferred_term: Arrhythmia
term:
id: HP:0011675
label: Arrhythmia
evidence:
- reference: PMID:37788487
reference_title: "Genetics of Dilated Cardiomyopathy."
supports: SUPPORT
snippet: DCM genes can affect a variety of cardiomyocyte functions, and particular genes whose function affects the cell-cell junction and cytoskeleton are associated with increased risk of arrhythmias and sudden cardiac death.
explanation: Genetic variants in DCM are associated with increased arrhythmia risk.
- reference: PMID:39298146
reference_title: "Risk Stratification in Nonischemic Dilated Cardiomyopathy Using CMR Imaging: A Systematic Review and Meta-Analysis."
supports: SUPPORT
snippet: The presence and extent of LGE were associated with various adverse clinical outcomes
explanation: Myocardial fibrosis in DCM is associated with adverse outcomes including arrhythmic events.
evidence_source: HUMAN_CLINICAL
- category: General
name: Fatigue
frequency: VERY_FREQUENT
phenotype_term:
preferred_term: Fatigue
term:
id: HP:0012378
label: Fatigue
- category: Cardiovascular
name: Peripheral edema
frequency: FREQUENT
phenotype_term:
preferred_term: Peripheral edema
term:
id: HP:0012398
label: Peripheral edema
genetic:
- name: TTN Truncating Variants
gene_term:
preferred_term: TTN
term:
id: hgnc:12403
label: TTN
association: Causative
inheritance:
- name: Autosomal dominant
features: >
Truncating variants in TTN (titin) are the most common genetic cause
of familial DCM, found in approximately 15% of cases. Truncated titin
integrates structurally into the sarcomere, causing defects at the I/A
junction and M-band that impair mechanosensing.
evidence:
- reference: PMID:37962957
reference_title: "Truncated titin is structurally integrated into the human dilated cardiomyopathic sarcomere."
supports: SUPPORT
snippet: Heterozygous (HET) truncating variant mutations in the TTN gene (TTNtvs), encoding the giant titin protein, are the most common genetic cause of dilated cardiomyopathy (DCM).
explanation: Confirms TTN truncating variants as the most common genetic cause of DCM.
- reference: CGGV:assertion_1ec53217-814e-44b3-a7b7-0f18311c20f3-2025-05-30T160000.000Z
reference_title: "TTN / dilated cardiomyopathy (Definitive)"
supports: SUPPORT
evidence_source: OTHER
snippet: "TTN | HGNC:12403 | dilated cardiomyopathy | MONDO:0005021 | AD | Definitive"
explanation: ClinGen classifies the TTN-dilated cardiomyopathy gene-disease relationship as definitive with autosomal dominant inheritance.
- name: LMNA Mutations
gene_term:
preferred_term: LMNA
term:
id: hgnc:6636
label: LMNA
association: Causative
inheritance:
- name: Autosomal dominant
features: >
Mutations in LMNA (lamin A/C) cause DCM frequently associated with
conduction system disease and arrhythmias, representing one of the most
malignant genetic forms. Found in 4-8% of all DCM cases.
evidence:
- reference: PMID:39519012
reference_title: "Dilated Cardiomyopathy: A Genetic Journey from Past to Future."
supports: SUPPORT
snippet: Current guidelines recommend genetic counseling and screening, as well as endorsing a handful of genotype-specific therapies (e.g., device placement in LMNA cardiomyopathy).
explanation: LMNA cardiomyopathy is recognized as requiring genotype-specific management including device therapy.
- reference: CGGV:assertion_132ea1ec-caa9-409a-8670-3edb2ec9c889-2025-05-30T160000.000Z
reference_title: "LMNA / dilated cardiomyopathy (Definitive)"
supports: SUPPORT
evidence_source: OTHER
snippet: "LMNA | HGNC:6636 | dilated cardiomyopathy | MONDO:0005021 | AD | Definitive"
explanation: ClinGen classifies the LMNA-dilated cardiomyopathy gene-disease relationship as definitive with autosomal dominant inheritance.
- name: MYH7 Mutations
gene_term:
preferred_term: MYH7
term:
id: hgnc:7577
label: MYH7
association: Causative
inheritance:
- name: Autosomal dominant
features: >
Missense mutations in MYH7 (beta-myosin heavy chain) cause DCM through
impaired sarcomeric function, representing the most frequent cause of
pediatric genetic DCM.
evidence:
- reference: PMID:39494569
reference_title: "Clinical Features and Outcomes of Pediatric MYH7-Related Dilated Cardiomyopathy."
supports: SUPPORT
snippet: genetic variants in MYH7 are the most frequent cause of pediatric genetic dilated cardiomyopathy (DCM)
explanation: Confirms MYH7 as the most frequent cause of pediatric genetic DCM.
evidence_source: HUMAN_CLINICAL
- reference: CGGV:assertion_4ec27d4f-70ea-4c6a-ad67-d6260ecadcde-2025-05-30T160000.000Z
reference_title: "MYH7 / dilated cardiomyopathy (Definitive)"
supports: SUPPORT
evidence_source: OTHER
snippet: "MYH7 | HGNC:7577 | dilated cardiomyopathy | MONDO:0005021 | AD | Definitive"
explanation: ClinGen classifies the MYH7-dilated cardiomyopathy gene-disease relationship as definitive with autosomal dominant inheritance.
- name: RBM20 Mutations
gene_term:
preferred_term: RBM20
term:
id: hgnc:27424
label: RBM20
association: Causative
inheritance:
- name: Autosomal dominant
features: >
Mutations in RBM20 cause aggressive DCM with early onset heart failure
and high mortality through disrupted RNA splicing of TTN and calcium-handling
genes.
evidence:
- reference: PMID:38288598
reference_title: "Mechanisms of RBM20 Cardiomyopathy: Insights From Model Systems."
supports: SUPPORT
snippet: pathogenic variants in RBM20 are linked to aggressive dilated cardiomyopathy with early onset heart failure and high mortality.
explanation: Confirms RBM20 variants cause aggressive DCM with poor outcomes.
- reference: CGGV:assertion_3e123751-078a-4d30-9f83-847119982342-2020-08-20T160000.000Z
reference_title: "RBM20 / dilated cardiomyopathy (Definitive)"
supports: SUPPORT
evidence_source: OTHER
snippet: "RBM20 | HGNC:27424 | dilated cardiomyopathy | MONDO:0005021 | AD | Definitive"
explanation: ClinGen classifies the RBM20-dilated cardiomyopathy gene-disease relationship as definitive with autosomal dominant inheritance.
- name: ABCC9
gene_term:
preferred_term: ABCC9
term:
id: hgnc:60
label: ABCC9
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_8be22ebc-f0f5-4de5-9c2a-382ebd02c533-2024-11-15T170000.000Z
reference_title: "ABCC9 / dilated cardiomyopathy (Limited)"
supports: SUPPORT
evidence_source: OTHER
snippet: "ABCC9 | HGNC:60 | dilated cardiomyopathy | MONDO:0005021 | AD | Limited"
explanation: ClinGen classifies the ABCC9-dilated cardiomyopathy gene-disease relationship as limited with autosomal dominant inheritance.
- name: ACTC1
gene_term:
preferred_term: ACTC1
term:
id: hgnc:143
label: ACTC1
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_3e9b4048-3003-4180-b891-fcf10d25a814-2025-04-25T040000.000Z
reference_title: "ACTC1 / dilated cardiomyopathy (Moderate)"
supports: SUPPORT
evidence_source: OTHER
snippet: "ACTC1 | HGNC:143 | dilated cardiomyopathy | MONDO:0005021 | AD | Moderate"
explanation: ClinGen classifies the ACTC1-dilated cardiomyopathy gene-disease relationship as moderate with autosomal dominant inheritance.
- name: ANKRD1
gene_term:
preferred_term: ANKRD1
term:
id: hgnc:15819
label: ANKRD1
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_3dcc6918-d7e7-4385-b343-bc8b8678b3a4-2025-02-07T170000.000Z
reference_title: "ANKRD1 / dilated cardiomyopathy (Limited)"
supports: SUPPORT
evidence_source: OTHER
snippet: "ANKRD1 | HGNC:15819 | dilated cardiomyopathy | MONDO:0005021 | AD | Limited"
explanation: ClinGen classifies the ANKRD1-dilated cardiomyopathy gene-disease relationship as limited with autosomal dominant inheritance.
- name: BAG3
gene_term:
preferred_term: BAG3
term:
id: hgnc:939
label: BAG3
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_1bec07e1-0186-4f45-bd8e-7d8a0f2547a9-2025-05-30T160000.000Z
reference_title: "BAG3 / dilated cardiomyopathy (Definitive)"
supports: SUPPORT
evidence_source: OTHER
snippet: "BAG3 | HGNC:939 | dilated cardiomyopathy | MONDO:0005021 | AD | Definitive"
explanation: ClinGen classifies the BAG3-dilated cardiomyopathy gene-disease relationship as definitive with autosomal dominant inheritance.
- name: BAG5
gene_term:
preferred_term: BAG5
term:
id: hgnc:941
label: BAG5
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_97fe83b7-fe12-4014-9706-6847446fa9bd-2024-06-14T160000.000Z
reference_title: "BAG5 / dilated cardiomyopathy (Moderate)"
supports: SUPPORT
evidence_source: OTHER
snippet: "BAG5 | HGNC:941 | dilated cardiomyopathy | MONDO:0005021 | AR | Moderate"
explanation: ClinGen classifies the BAG5-dilated cardiomyopathy gene-disease relationship as moderate with autosomal recessive inheritance.
- name: CDH2
gene_term:
preferred_term: CDH2
term:
id: hgnc:1759
label: CDH2
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_73900af1-14ee-4933-b5dc-832753e6cc6c-2025-05-16T160000.000Z
reference_title: "CDH2 / dilated cardiomyopathy (Limited)"
supports: SUPPORT
evidence_source: OTHER
snippet: "CDH2 | HGNC:1759 | dilated cardiomyopathy | MONDO:0005021 | AD | Limited"
explanation: ClinGen classifies the CDH2-dilated cardiomyopathy gene-disease relationship as limited with autosomal dominant inheritance.
- name: CTF1
gene_term:
preferred_term: CTF1
term:
id: hgnc:2499
label: CTF1
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_ef19cc13-543b-451e-b278-ec1fc04f694c-2024-08-07T160000.000Z
reference_title: "CTF1 / dilated cardiomyopathy (Limited)"
supports: SUPPORT
evidence_source: OTHER
snippet: "CTF1 | HGNC:2499 | dilated cardiomyopathy | MONDO:0005021 | AD | Limited"
explanation: ClinGen classifies the CTF1-dilated cardiomyopathy gene-disease relationship as limited with autosomal dominant inheritance.
- name: DES
gene_term:
preferred_term: DES
term:
id: hgnc:2770
label: DES
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_91b2595a-5eb9-4ac3-aa3d-d5f99cacad84-2025-05-30T160000.000Z
reference_title: "DES / dilated cardiomyopathy (Definitive)"
supports: SUPPORT
evidence_source: OTHER
snippet: "DES | HGNC:2770 | dilated cardiomyopathy | MONDO:0005021 | AD | Definitive"
explanation: ClinGen classifies the DES-dilated cardiomyopathy gene-disease relationship as definitive with autosomal dominant inheritance.
- name: DSG2
gene_term:
preferred_term: DSG2
term:
id: hgnc:3049
label: DSG2
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_a7df1018-593f-481f-9dd0-77ce3ea829a6-2025-03-28T160000.000Z
reference_title: "DSG2 / dilated cardiomyopathy (Limited)"
supports: SUPPORT
evidence_source: OTHER
snippet: "DSG2 | HGNC:3049 | dilated cardiomyopathy | MONDO:0005021 | AD | Limited"
explanation: ClinGen classifies the DSG2-dilated cardiomyopathy gene-disease relationship as limited with autosomal dominant inheritance.
- name: FBXO32
gene_term:
preferred_term: FBXO32
term:
id: hgnc:16731
label: FBXO32
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_9f006b4e-08a3-403c-86dd-704f741494fe-2025-05-30T160000.000Z
reference_title: "FBXO32 / dilated cardiomyopathy (Limited)"
supports: SUPPORT
evidence_source: OTHER
snippet: "FBXO32 | HGNC:16731 | dilated cardiomyopathy | MONDO:0005021 | AR | Limited"
explanation: ClinGen classifies the FBXO32-dilated cardiomyopathy gene-disease relationship as limited with autosomal recessive inheritance.
- name: FLII
gene_term:
preferred_term: FLII
term:
id: hgnc:3750
label: FLII
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_660622fe-f967-42be-a565-0383e5f710c2-2024-06-14T040000.000Z
reference_title: "FLII / dilated cardiomyopathy (Moderate)"
supports: SUPPORT
evidence_source: OTHER
snippet: "FLII | HGNC:3750 | dilated cardiomyopathy | MONDO:0005021 | AR | Moderate"
explanation: ClinGen classifies the FLII-dilated cardiomyopathy gene-disease relationship as moderate with autosomal recessive inheritance.
- name: FLNC
gene_term:
preferred_term: FLNC
term:
id: hgnc:3756
label: FLNC
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_edb5197f-05dc-42a4-a497-fff472985c6b-2025-05-30T160000.000Z
reference_title: "FLNC / dilated cardiomyopathy (Definitive)"
supports: SUPPORT
evidence_source: OTHER
snippet: "FLNC | HGNC:3756 | dilated cardiomyopathy | MONDO:0005021 | AD | Definitive"
explanation: ClinGen classifies the FLNC-dilated cardiomyopathy gene-disease relationship as definitive with autosomal dominant inheritance.
- name: GATAD1
gene_term:
preferred_term: GATAD1
term:
id: hgnc:29941
label: GATAD1
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_56933afb-863f-46f5-884d-17522adb31a8-2024-08-07T160000.000Z
reference_title: "GATAD1 / dilated cardiomyopathy (Limited)"
supports: SUPPORT
evidence_source: OTHER
snippet: "GATAD1 | HGNC:29941 | dilated cardiomyopathy | MONDO:0005021 | AR | Limited"
explanation: ClinGen classifies the GATAD1-dilated cardiomyopathy gene-disease relationship as limited with autosomal recessive inheritance.
- name: GET3
gene_term:
preferred_term: GET3
term:
id: hgnc:752
label: GET3
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_605f9805-5af1-445a-911a-d31ebff15125-2025-05-02T160000.000Z
reference_title: "GET3 / dilated cardiomyopathy (Limited)"
supports: SUPPORT
evidence_source: OTHER
snippet: "GET3 | HGNC:752 | dilated cardiomyopathy | MONDO:0005021 | AR | Limited"
explanation: ClinGen classifies the GET3-dilated cardiomyopathy gene-disease relationship as limited with autosomal recessive inheritance.
- name: JPH2
gene_term:
preferred_term: JPH2
term:
id: hgnc:14202
label: JPH2
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_8d310e47-1f84-4c61-b06a-b273a4b1b601-2025-01-24T170000.000Z
reference_title: "JPH2 / dilated cardiomyopathy (Limited)"
supports: SUPPORT
evidence_source: OTHER
snippet: "JPH2 | HGNC:14202 | dilated cardiomyopathy | MONDO:0005021 | AD | Limited"
explanation: ClinGen classifies the JPH2-dilated cardiomyopathy gene-disease relationship as limited with autosomal dominant inheritance.
- reference: CGGV:assertion_7aa138ae-114c-46b0-84e4-5bfc5a7db51b-2025-01-24T170000.000Z
reference_title: "JPH2 / dilated cardiomyopathy (Strong)"
supports: SUPPORT
evidence_source: OTHER
snippet: "JPH2 | HGNC:14202 | dilated cardiomyopathy | MONDO:0005021 | AR | Strong"
explanation: ClinGen classifies the JPH2-dilated cardiomyopathy gene-disease relationship as strong with autosomal recessive inheritance.
- name: LAMA4
gene_term:
preferred_term: LAMA4
term:
id: hgnc:6484
label: LAMA4
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_e937f98e-7577-48bd-a24a-361634ba0a8d-2024-11-15T170000.000Z
reference_title: "LAMA4 / dilated cardiomyopathy (Limited)"
supports: SUPPORT
evidence_source: OTHER
snippet: "LAMA4 | HGNC:6484 | dilated cardiomyopathy | MONDO:0005021 | AD | Limited"
explanation: ClinGen classifies the LAMA4-dilated cardiomyopathy gene-disease relationship as limited with autosomal dominant inheritance.
- name: LDB3
gene_term:
preferred_term: LDB3
term:
id: hgnc:15710
label: LDB3
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_7756e3c0-5a16-49b8-ac0f-220e79a4fa99-2025-03-21T040000.000Z
reference_title: "LDB3 / dilated cardiomyopathy (Limited)"
supports: SUPPORT
evidence_source: OTHER
snippet: "LDB3 | HGNC:15710 | dilated cardiomyopathy | MONDO:0005021 | AD | Limited"
explanation: ClinGen classifies the LDB3-dilated cardiomyopathy gene-disease relationship as limited with autosomal dominant inheritance.
- reference: CGGV:assertion_c9d89b2d-2761-47d5-a773-e592f8e6d1df-2025-03-21T040000.000Z
reference_title: "LDB3 / dilated cardiomyopathy (Strong)"
supports: SUPPORT
evidence_source: OTHER
snippet: "LDB3 | HGNC:15710 | dilated cardiomyopathy | MONDO:0005021 | AR | Strong"
explanation: ClinGen classifies the LDB3-dilated cardiomyopathy gene-disease relationship as strong with autosomal recessive inheritance.
- name: LMOD2
gene_term:
preferred_term: LMOD2
term:
id: hgnc:6648
label: LMOD2
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_d19140d6-8200-4fce-9906-fdda527a4f7e-2024-10-04T160000.000Z
reference_title: "LMOD2 / dilated cardiomyopathy (Definitive)"
supports: SUPPORT
evidence_source: OTHER
snippet: "LMOD2 | HGNC:6648 | dilated cardiomyopathy | MONDO:0005021 | AR | Definitive"
explanation: ClinGen classifies the LMOD2-dilated cardiomyopathy gene-disease relationship as definitive with autosomal recessive inheritance.
- name: MIB1
gene_term:
preferred_term: MIB1
term:
id: hgnc:21086
label: MIB1
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_d97cecce-b9a7-42fb-bc2d-034468094949-2024-10-04T160000.000Z
reference_title: "MIB1 / dilated cardiomyopathy (Limited)"
supports: SUPPORT
evidence_source: OTHER
snippet: "MIB1 | HGNC:21086 | dilated cardiomyopathy | MONDO:0005021 | AD | Limited"
explanation: ClinGen classifies the MIB1-dilated cardiomyopathy gene-disease relationship as limited with autosomal dominant inheritance.
- name: MYBPC3
gene_term:
preferred_term: MYBPC3
term:
id: hgnc:7551
label: MYBPC3
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_652d0370-9574-450c-b7c4-eec86ade9046-2025-05-16T160000.000Z
reference_title: "MYBPC3 / dilated cardiomyopathy (Limited)"
supports: SUPPORT
evidence_source: OTHER
snippet: "MYBPC3 | HGNC:7551 | dilated cardiomyopathy | MONDO:0005021 | AD | Limited"
explanation: ClinGen classifies the MYBPC3-dilated cardiomyopathy gene-disease relationship as limited with autosomal dominant inheritance.
- reference: CGGV:assertion_f240fb99-f839-4b9b-8e52-f2dc49078886-2025-05-16T040000.000Z
reference_title: "MYBPC3 / dilated cardiomyopathy (Limited)"
supports: SUPPORT
evidence_source: OTHER
snippet: "MYBPC3 | HGNC:7551 | dilated cardiomyopathy | MONDO:0005021 | AR | Limited"
explanation: ClinGen classifies the MYBPC3-dilated cardiomyopathy gene-disease relationship as limited with autosomal recessive inheritance.
- name: MYH6
gene_term:
preferred_term: MYH6
term:
id: hgnc:7576
label: MYH6
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_6d55ac7b-e9d8-4a97-bb20-92beeffaed96-2025-03-07T170000.000Z
reference_title: "MYH6 / dilated cardiomyopathy (Limited)"
supports: SUPPORT
evidence_source: OTHER
snippet: "MYH6 | HGNC:7576 | dilated cardiomyopathy | MONDO:0005021 | AD | Limited"
explanation: ClinGen classifies the MYH6-dilated cardiomyopathy gene-disease relationship as limited with autosomal dominant inheritance.
- name: MYL2
gene_term:
preferred_term: MYL2
term:
id: hgnc:7583
label: MYL2
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_8405609b-1664-4849-848e-bec138350c92-2025-05-16T160000.000Z
reference_title: "MYL2 / dilated cardiomyopathy (Limited)"
supports: SUPPORT
evidence_source: OTHER
snippet: "MYL2 | HGNC:7583 | dilated cardiomyopathy | MONDO:0005021 | AD | Limited"
explanation: ClinGen classifies the MYL2-dilated cardiomyopathy gene-disease relationship as limited with autosomal dominant inheritance.
- name: MYLK3
gene_term:
preferred_term: MYLK3
term:
id: hgnc:29826
label: MYLK3
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_713bb7fc-2ae0-488f-acfa-4c0bf963e8bc-2025-07-11T160000.000Z
reference_title: "MYLK3 / dilated cardiomyopathy (Moderate)"
supports: SUPPORT
evidence_source: OTHER
snippet: "MYLK3 | HGNC:29826 | dilated cardiomyopathy | MONDO:0005021 | AD | Moderate"
explanation: ClinGen classifies the MYLK3-dilated cardiomyopathy gene-disease relationship as moderate with autosomal dominant inheritance.
- name: MYPN
gene_term:
preferred_term: MYPN
term:
id: hgnc:23246
label: MYPN
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_ffd924ad-55ce-4b05-8a91-584ef49b4e80-2025-03-05T050000.000Z
reference_title: "MYPN / dilated cardiomyopathy (Limited)"
supports: SUPPORT
evidence_source: OTHER
snippet: "MYPN | HGNC:23246 | dilated cardiomyopathy | MONDO:0005021 | AD | Limited"
explanation: ClinGen classifies the MYPN-dilated cardiomyopathy gene-disease relationship as limited with autosomal dominant inheritance.
- name: MYZAP
gene_term:
preferred_term: MYZAP
term:
id: hgnc:43444
label: MYZAP
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_587dc3e6-fc9e-4802-8370-cbff25731f45-2024-08-23T160000.000Z
reference_title: "MYZAP / dilated cardiomyopathy (Moderate)"
supports: SUPPORT
evidence_source: OTHER
snippet: "MYZAP | HGNC:43444 | dilated cardiomyopathy | MONDO:0005021 | AR | Moderate"
explanation: ClinGen classifies the MYZAP-dilated cardiomyopathy gene-disease relationship as moderate with autosomal recessive inheritance.
- name: NEBL
gene_term:
preferred_term: NEBL
term:
id: hgnc:16932
label: NEBL
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_29bc6c4f-3f2d-45e2-b796-a79616857094-2024-10-18T160000.000Z
reference_title: "NEBL / dilated cardiomyopathy (Limited)"
supports: SUPPORT
evidence_source: OTHER
snippet: "NEBL | HGNC:16932 | dilated cardiomyopathy | MONDO:0005021 | AD | Limited"
explanation: ClinGen classifies the NEBL-dilated cardiomyopathy gene-disease relationship as limited with autosomal dominant inheritance.
- name: NEXN
gene_term:
preferred_term: NEXN
term:
id: hgnc:29557
label: NEXN
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_ffe00b43-a449-4476-b7e0-f24cf6613766-2024-11-15T050000.000Z
reference_title: "NEXN / dilated cardiomyopathy (Strong)"
supports: SUPPORT
evidence_source: OTHER
snippet: "NEXN | HGNC:29557 | dilated cardiomyopathy | MONDO:0005021 | AD | Strong"
explanation: ClinGen classifies the NEXN-dilated cardiomyopathy gene-disease relationship as strong with autosomal dominant inheritance.
- name: NRAP
gene_term:
preferred_term: NRAP
term:
id: hgnc:7988
label: NRAP
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_f72c0812-9782-444c-a87c-b50286bbfd09-2024-07-26T160000.000Z
reference_title: "NRAP / dilated cardiomyopathy (Strong)"
supports: SUPPORT
evidence_source: OTHER
snippet: "NRAP | HGNC:7988 | dilated cardiomyopathy | MONDO:0005021 | AR | Strong"
explanation: ClinGen classifies the NRAP-dilated cardiomyopathy gene-disease relationship as strong with autosomal recessive inheritance.
- name: OBSCN
gene_term:
preferred_term: OBSCN
term:
id: hgnc:15719
label: OBSCN
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_e1b69281-f3d0-4efe-998d-db080868b57e-2025-02-07T170000.000Z
reference_title: "OBSCN / dilated cardiomyopathy (Limited)"
supports: SUPPORT
evidence_source: OTHER
snippet: "OBSCN | HGNC:15719 | dilated cardiomyopathy | MONDO:0005021 | AD | Limited"
explanation: ClinGen classifies the OBSCN-dilated cardiomyopathy gene-disease relationship as limited with autosomal dominant inheritance.
- name: PLEKHM2
gene_term:
preferred_term: PLEKHM2
term:
id: hgnc:29131
label: PLEKHM2
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_44c534b9-16d1-435b-9eca-fb7d1de6ea26-2024-11-15T170000.000Z
reference_title: "PLEKHM2 / dilated cardiomyopathy (Moderate)"
supports: SUPPORT
evidence_source: OTHER
snippet: "PLEKHM2 | HGNC:29131 | dilated cardiomyopathy | MONDO:0005021 | AR | Moderate"
explanation: ClinGen classifies the PLEKHM2-dilated cardiomyopathy gene-disease relationship as moderate with autosomal recessive inheritance.
- name: PPA2
gene_term:
preferred_term: PPA2
term:
id: hgnc:28883
label: PPA2
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_35b7716c-4c72-4ca2-b176-e732d136ed0d-2025-05-16T160000.000Z
reference_title: "PPA2 / dilated cardiomyopathy (Strong)"
supports: SUPPORT
evidence_source: OTHER
snippet: "PPA2 | HGNC:28883 | dilated cardiomyopathy | MONDO:0005021 | AR | Strong"
explanation: ClinGen classifies the PPA2-dilated cardiomyopathy gene-disease relationship as strong with autosomal recessive inheritance.
- name: PRDM16
gene_term:
preferred_term: PRDM16
term:
id: hgnc:14000
label: PRDM16
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_c0a3445a-5bb0-4d77-a4f0-5b7cfceb837f-2025-05-30T160000.000Z
reference_title: "PRDM16 / dilated cardiomyopathy (Strong)"
supports: SUPPORT
evidence_source: OTHER
snippet: "PRDM16 | HGNC:14000 | dilated cardiomyopathy | MONDO:0005021 | AD | Strong"
explanation: ClinGen classifies the PRDM16-dilated cardiomyopathy gene-disease relationship as strong with autosomal dominant inheritance.
- name: RPL3L
gene_term:
preferred_term: RPL3L
term:
id: hgnc:10351
label: RPL3L
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_1dae12df-f703-4e4d-99b6-b38f6ed65fa0-2025-05-30T160000.000Z
reference_title: "RPL3L / dilated cardiomyopathy (Moderate)"
supports: SUPPORT
evidence_source: OTHER
snippet: "RPL3L | HGNC:10351 | dilated cardiomyopathy | MONDO:0005021 | AR | Moderate"
explanation: ClinGen classifies the RPL3L-dilated cardiomyopathy gene-disease relationship as moderate with autosomal recessive inheritance.
- name: RYR2
gene_term:
preferred_term: RYR2
term:
id: hgnc:10484
label: RYR2
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_b35e4dc8-c7d6-4c20-995f-0b1f4508ee3d-2025-01-10T170000.000Z
reference_title: "RYR2 / dilated cardiomyopathy (Limited)"
supports: SUPPORT
evidence_source: OTHER
snippet: "RYR2 | HGNC:10484 | dilated cardiomyopathy | MONDO:0005021 | AD | Limited"
explanation: ClinGen classifies the RYR2-dilated cardiomyopathy gene-disease relationship as limited with autosomal dominant inheritance.
- name: SCN5A
gene_term:
preferred_term: SCN5A
term:
id: hgnc:10593
label: SCN5A
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_53c90d2e-4d40-48ab-8761-b0158102c977-2025-05-30T160000.000Z
reference_title: "SCN5A / dilated cardiomyopathy (Definitive)"
supports: SUPPORT
evidence_source: OTHER
snippet: "SCN5A | HGNC:10593 | dilated cardiomyopathy | MONDO:0005021 | AD | Definitive"
explanation: ClinGen classifies the SCN5A-dilated cardiomyopathy gene-disease relationship as definitive with autosomal dominant inheritance.
- name: TBX20
gene_term:
preferred_term: TBX20
term:
id: hgnc:11598
label: TBX20
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_58a014d9-2d97-4041-961d-cfd09fa11adf-2025-05-02T160000.000Z
reference_title: "TBX20 / dilated cardiomyopathy (Strong)"
supports: SUPPORT
evidence_source: OTHER
snippet: "TBX20 | HGNC:11598 | dilated cardiomyopathy | MONDO:0005021 | AD | Strong"
explanation: ClinGen classifies the TBX20-dilated cardiomyopathy gene-disease relationship as strong with autosomal dominant inheritance.
- name: TCAP
gene_term:
preferred_term: TCAP
term:
id: hgnc:11610
label: TCAP
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_4c8ab9d8-919a-443f-b027-5aec92b273d1-2025-04-18T040000.000Z
reference_title: "TCAP / dilated cardiomyopathy (Limited)"
supports: SUPPORT
evidence_source: OTHER
snippet: "TCAP | HGNC:11610 | dilated cardiomyopathy | MONDO:0005021 | AD | Limited"
explanation: ClinGen classifies the TCAP-dilated cardiomyopathy gene-disease relationship as limited with autosomal dominant inheritance.
- name: TMOD1
gene_term:
preferred_term: TMOD1
term:
id: hgnc:11871
label: TMOD1
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_dbcee227-6a90-474b-ba94-7714bcf704d5-2025-05-02T160000.000Z
reference_title: "TMOD1 / dilated cardiomyopathy (Limited)"
supports: SUPPORT
evidence_source: OTHER
snippet: "TMOD1 | HGNC:11871 | dilated cardiomyopathy | MONDO:0005021 | AR | Limited"
explanation: ClinGen classifies the TMOD1-dilated cardiomyopathy gene-disease relationship as limited with autosomal recessive inheritance.
- name: TNNC1
gene_term:
preferred_term: TNNC1
term:
id: hgnc:11943
label: TNNC1
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_6ad71467-74c0-4a7c-932d-c5ca5747e59e-2025-05-30T160000.000Z
reference_title: "TNNC1 / dilated cardiomyopathy (Definitive)"
supports: SUPPORT
evidence_source: OTHER
snippet: "TNNC1 | HGNC:11943 | dilated cardiomyopathy | MONDO:0005021 | AD | Definitive"
explanation: ClinGen classifies the TNNC1-dilated cardiomyopathy gene-disease relationship as definitive with autosomal dominant inheritance.
- name: TNNI3
gene_term:
preferred_term: TNNI3
term:
id: hgnc:11947
label: TNNI3
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_668087ea-0d2f-42c2-a291-f73400d34023-2025-04-18T160000.000Z
reference_title: "TNNI3 / dilated cardiomyopathy (Strong)"
supports: SUPPORT
evidence_source: OTHER
snippet: "TNNI3 | HGNC:11947 | dilated cardiomyopathy | MONDO:0005021 | AD | Strong"
explanation: ClinGen classifies the TNNI3-dilated cardiomyopathy gene-disease relationship as strong with autosomal dominant inheritance.
- reference: CGGV:assertion_b89182f6-1574-48c6-832f-add41ffbaa4c-2025-04-18T160000.000Z
reference_title: "TNNI3 / dilated cardiomyopathy (Strong)"
supports: SUPPORT
evidence_source: OTHER
snippet: "TNNI3 | HGNC:11947 | dilated cardiomyopathy | MONDO:0005021 | AR | Strong"
explanation: ClinGen classifies the TNNI3-dilated cardiomyopathy gene-disease relationship as strong with autosomal recessive inheritance.
- name: TNNI3K
gene_term:
preferred_term: TNNI3K
term:
id: hgnc:19661
label: TNNI3K
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_f5ce5790-8940-4d7a-a85c-8682be86939d-2025-09-05T160000.000Z
reference_title: "TNNI3K / dilated cardiomyopathy (Moderate)"
supports: SUPPORT
evidence_source: OTHER
snippet: "TNNI3K | HGNC:19661 | dilated cardiomyopathy | MONDO:0005021 | AD | Moderate"
explanation: ClinGen classifies the TNNI3K-dilated cardiomyopathy gene-disease relationship as moderate with autosomal dominant inheritance.
- name: TNNT2
gene_term:
preferred_term: TNNT2
term:
id: hgnc:11949
label: TNNT2
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_20fbdfad-b2d2-45f1-9658-e2e3e02cb413-2025-05-30T160000.000Z
reference_title: "TNNT2 / dilated cardiomyopathy (Definitive)"
supports: SUPPORT
evidence_source: OTHER
snippet: "TNNT2 | HGNC:11949 | dilated cardiomyopathy | MONDO:0005021 | AD | Definitive"
explanation: ClinGen classifies the TNNT2-dilated cardiomyopathy gene-disease relationship as definitive with autosomal dominant inheritance.
- name: TPM1
gene_term:
preferred_term: TPM1
term:
id: hgnc:12010
label: TPM1
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_1173d239-23cf-4c9c-9ea5-f95d9356e6c7-2025-04-04T160000.000Z
reference_title: "TPM1 / dilated cardiomyopathy (Moderate)"
supports: SUPPORT
evidence_source: OTHER
snippet: "TPM1 | HGNC:12010 | dilated cardiomyopathy | MONDO:0005021 | AD | Moderate"
explanation: ClinGen classifies the TPM1-dilated cardiomyopathy gene-disease relationship as moderate with autosomal dominant inheritance.
- name: VCL
gene_term:
preferred_term: VCL
term:
id: hgnc:12665
label: VCL
association: Pathogenic Variants
evidence:
- reference: CGGV:assertion_2d46699a-5f8c-460d-9233-bec4e2ecf560-2024-08-09T160000.000Z
reference_title: "VCL / dilated cardiomyopathy (Strong)"
supports: SUPPORT
evidence_source: OTHER
snippet: "VCL | HGNC:12665 | dilated cardiomyopathy | MONDO:0005021 | AD | Strong"
explanation: ClinGen classifies the VCL-dilated cardiomyopathy gene-disease relationship as strong with autosomal dominant inheritance.
treatments:
- name: ACE Inhibitors / ARBs
description: First-line neurohormonal blockade to reduce afterload and prevent adverse remodeling.
treatment_term:
preferred_term: ACE inhibitor therapy
term:
id: NCIT:C15986
label: Pharmacotherapy
- name: Beta-Blockers
description: Reduce heart rate and neurohormonal activation, improving survival in heart failure with reduced ejection fraction.
treatment_term:
preferred_term: beta-blocker therapy
term:
id: NCIT:C15986
label: Pharmacotherapy
- name: SGLT2 Inhibitors
description: Newer therapy shown to reduce heart failure hospitalization and cardiovascular death in HFrEF regardless of diabetes status.
treatment_term:
preferred_term: SGLT2 inhibitor therapy
term:
id: NCIT:C15986
label: Pharmacotherapy
- name: Cardiac Resynchronization Therapy
description: Biventricular pacing for patients with wide QRS and reduced LVEF to improve synchrony and outcomes.
treatment_term:
preferred_term: cardiac resynchronization therapy
term:
id: MAXO:0000004
label: surgical procedure
- name: Heart Transplantation
description: Definitive therapy for end-stage DCM refractory to medical and device therapy.
treatment_term:
preferred_term: heart transplantation
term:
id: MAXO:0010039
label: organ transplantation
- name: Implantable Cardioverter-Defibrillator
description: Indicated for primary prevention of sudden cardiac death in patients with LVEF <=35% despite optimal medical therapy.
treatment_term:
preferred_term: implantable cardioverter-defibrillator placement
term:
id: MAXO:0000004
label: surgical procedure
- name: Genetic Counseling
description: Recommended for patients with familial or genetic DCM to guide cascade screening and family management.
treatment_term:
preferred_term: genetic counseling
term:
id: MAXO:0000079
label: genetic counseling
evidence:
- reference: PMID:37788487
reference_title: "Genetics of Dilated Cardiomyopathy."
supports: SUPPORT
snippet: Through advancements in next-generation sequencing and cardiac imaging, identification of genetic DCM has improved over the past couple decades, and precision medicine is now at the forefront of treatment for these patients and their families.
explanation: Confirms the importance of genetic identification and precision medicine in DCM management.
- reference: PMID:39519012
reference_title: "Dilated Cardiomyopathy: A Genetic Journey from Past to Future."
supports: SUPPORT
snippet: Current guidelines recommend genetic counseling and screening, as well as endorsing a handful of genotype-specific therapies
explanation: Guidelines explicitly recommend genetic counseling and screening for DCM.
Question: You are an expert researcher providing comprehensive, well-cited information.
Provide detailed information focusing on: 1. Key concepts and definitions with current understanding 2. Recent developments and latest research (prioritize 2023-2024 sources) 3. Current applications and real-world implementations 4. Expert opinions and analysis from authoritative sources 5. Relevant statistics and data from recent studies
Format as a comprehensive research report with proper citations. Include URLs and publication dates where available. Always prioritize recent, authoritative sources and provide specific citations for all major claims.
Please provide a comprehensive research report on the pathophysiology of Dilated Cardiomyopathy. Focus on the molecular and cellular mechanisms underlying disease progression.
Structure your response as a narrative that could be used to populate a disease knowledge base entry with: - Pathophysiology description - Gene/protein annotations with ontology terms (HGNC, GO) - Phenotype associations (HP terms) - Cell type involvement (CL terms) - Anatomical locations (UBERON terms) - Chemical entities (CHEBI terms) - Evidence items with PMIDs
DCM is characterized by left-ventricular or biventricular dilatation and systolic dysfunction not explained by abnormal loading conditions or ischemic heart disease (non-ischemic DCM definitions are explicitly stated in the CMR risk meta-analysis). (eichhorn2024riskstratificationin pages 1-2)
Recent authoritative reviews emphasize that DCM frequently reflects a final common pathway reached through diverse genetic and acquired perturbations, and that many cases fall on a monogenic-to-polygenic continuum. - Eldemire et al. note that “Up to 50% of nonischemic DCM is genetic or idiopathic” and that gene–environment interactions modify phenotypic expression. (eldemire2024geneticsofdilated pages 1-3) - Newman & Burke frame DCM genetics as a spectrum: “a complex genetic spectrum ranging from monogenic to polygenic” and state that prevalence estimates derived from population imaging support a higher background burden than historically recognized. (newman2024dilatedcardiomyopathya pages 1-2) - Oligogenic contributions are highlighted: “20–38% of DCM may have an oligogenic basis” (multiple rare variants contributing to similar phenotype). (eldemire2024geneticsofdilated pages 1-3)
Population estimates have been revised upward compared with older registry estimates. - Newman & Burke summarize that revised population estimates place prevalence near 1:250 (0.4%), with UK Biobank cardiac MRI ~1 in 220 (0.45%, 95% CI 0.39–0.53%). (newman2024dilatedcardiomyopathya pages 1-2)
DCM progression is driven by contractile failure and maladaptive remodeling, typically involving (i) impaired force generation and/or transmission, (ii) stress-response pathway activation, and (iii) myocardial remodeling with fibrosis and arrhythmogenic substrate.
A unifying mechanism across many genetic DCM forms is depressed tension generation with altered mechanotransduction. - Solaro et al. summarize the prevailing concept: variants in sarcomeric/cytoskeletal proteins “cause a decrease in tension by the myofilaments,” leading to signaling abnormalities and later “structural and functional maladaptations, leading to heart failure.” (solaro2024emergingconceptsof pages 1-2)
TTN truncating variants (TTNtv) are the most common monogenic contributors in adult DCM and are strongly tied to sarcomere integrity and mechanosensing. - In a human explanted-heart cohort (n=127 DCM samples), Kellermayer et al. report: “The occurrence of TTNtv was found to be 15% in the DCM cohort.” They also report reduced full-length titin in TTNtv+ samples and show sarcomere-localization evidence using proteomics and STED microscopy. (kellermayer2024truncatedtitinis pages 1-2) - Their abstract summarizes a key mechanistic inference: sarcomeric epitope analyses pointed to “possible structural defects in the I/A junction and the M-band of TTNtv+ sarcomeres, which probably contribute, possibly via faulty mechanosensor function, to the development of manifest DCM.” (kellermayer2024truncatedtitinis pages 1-2)
Direct visual evidence: STED super-resolution microscopy images show preserved gross sarcomeric registry in TTNtv+ tissue compared with TTNtv− and controls, supporting structural integration of titin epitopes in sarcomeres rather than diffuse mislocalization. (kellermayer2024truncatedtitinis media 0d428a5a, kellermayer2024truncatedtitinis media 3e1be5e2)
RBM20 cardiomyopathy illustrates how gene-expression regulation can drive DCM by altering protein isoforms (notably titin). - Gregorich et al. describe that pathogenic RBM20 variants are “linked to aggressive dilated cardiomyopathy with early onset heart failure and high mortality.” Mechanistically, certain variants “not only disrupt splicing but also hinder nucleocytoplasmic transport and lead to the formation of RBM20 biomolecular condensates in the sarcoplasm.” (gregorich2024mechanismsofrbm20 pages 1-3) - Newman & Burke further connect RBM20 dysfunction to titin isoforms and arrhythmia mechanisms, noting RBM20-mediated splicing changes shift titin toward more compliant isoforms and affect Ca2+ handling genes (e.g., CACNA1C, CAMK2D). (newman2024dilatedcardiomyopathya pages 7-8)
Nuclear structural instability and altered mechanotransduction contribute to arrhythmia-prone and progressive DCM. - Newman & Burke characterize LMNA cardiomyopathy as “the most malignant genetic DCM,” with “a high burden of conduction system disease… malignant VAs,” and “very high rates of progression to end-stage HF.” (newman2024dilatedcardiomyopathya pages 13-14)
Immune-mediated injury can be causal (primary) or act as an accelerator of remodeling. - Xu et al. outline a canonical myocarditis-to-DCM progression model with three phases, stating that chronic phases “can last from months to years” and that “chronic cardiac inflammation can finally result in the incidence of DCM.” (xu2024constructionandevaluation pages 1-2) - Vicenzetto et al. note that virus-negative and/or virus-positive inflammatory cardiomyopathy has drawn attention because of emerging etiologic treatments, linking inflammatory cardiomyopathy to the “onset and progression of dilated cardiomyopathy (DCM).” (vicenzetto2024theroleof pages 1-2)
Fibrosis (replacement and interstitial) is a common downstream consequence across genetic and acquired DCM, contributing to systolic dysfunction and arrhythmogenesis. - In the largest recent quantitative synthesis, a JAMA systematic review/meta-analysis (103 studies; 29,687 patients) reported that late gadolinium enhancement (LGE) is strongly prognostic: LGE presence associated with all-cause mortality (HR 1.81) and arrhythmic events (HR 2.69), among other outcomes. (eichhorn2024riskstratificationin pages 1-2)
Recent 2024 Nature Genetics GWAS analyses reinforce that cardiomyocytes and the contractile apparatus are central, while also identifying non-cardiomyocyte states and intercellular signaling. - Jurgens et al. performed GWAS/MTAG with 9,365 cases and 946,368 controls, finding 70 genome-wide significant loci; enrichment analyses highlighted “the central role of the cardiomyocyte and contractile apparatus.” (jurgens2024genomewideassociationstudy pages 1-2) - Zheng et al. identified 80 loci (59 genome-wide + 21 FDR 1%) and used single-nucleus transcriptomics of end-stage DCM hearts to identify noncardiomyocyte states and pathway signals (e.g., Ephrin-B/BMP6 pathway involvement). (zheng2024genomewideassociationanalysis pages 10-11)
Key gene classes include sarcomere/contractility (TTN, MYH7, troponins), nuclear envelope (LMNA), RNA splicing (RBM20), cytoskeleton/desmosome (FLNC, DSP, DES), protein quality control (BAG3), and ion handling. (newman2024dilatedcardiomyopathya pages 4-6, newman2024dilatedcardiomyopathya pages 13-14, gregorich2024mechanismsofrbm20 pages 1-3, newman2024dilatedcardiomyopathya pages 7-8)
A minimal, evidence-aligned GO-style set includes: - Sarcomere organization / muscle contraction / mechanosensing (TTN, MYH7 and sarcomeric tension model). (solaro2024emergingconceptsof pages 1-2, kellermayer2024truncatedtitinis pages 1-2) - Alternative splicing / mRNA processing (RBM20). (gregorich2024mechanismsofrbm20 pages 1-3, newman2024dilatedcardiomyopathya pages 7-8) - Immune response / cytokine-mediated signaling (myocarditis transition to DCM; immune infiltration signatures). (vicenzetto2024theroleof pages 1-2, xu2024constructionandevaluation pages 1-2) - Extracellular matrix organization / fibrosis (scar formation) (LGE-associated outcomes). (eichhorn2024riskstratificationin pages 1-2)
Kellermayer et al. used NGS + proteomics + STED microscopy in human DCM myocardium, supporting sarcomere integration of truncated titin and pointing to I/A junction and M-band defects as mechanistic contributors. (kellermayer2024truncatedtitinis pages 1-2, kellermayer2024truncatedtitinis media 0d428a5a, kellermayer2024truncatedtitinis media 3e1be5e2)
RBM20 pathogenic variants may act beyond splice disruption, involving altered nucleocytoplasmic transport and formation of sarcoplasmic condensates, with ongoing debate on which mechanism is causal. (gregorich2024mechanismsofrbm20 pages 1-3)
Large-scale GWAS/MTAG (2024) identifies dozens of loci and reinforces cardiomyocyte contractile apparatus enrichment; complementary analyses implicate noncardiomyocyte states and signaling pathways in end-stage myocardium. (jurgens2024genomewideassociationstudy pages 1-2, zheng2024genomewideassociationanalysis pages 10-11)
In nonischemic DCM, LGE presence/extent is consistently associated with mortality and arrhythmic outcomes, while LVEF was not significantly associated with mortality/arrhythmic endpoints in the meta-analysis. (eichhorn2024riskstratificationin pages 1-2)
| Mechanism | Key Genes/Proteins (HGNC) | Affected Cell Types (CL) | Dysregulated Processes (GO-like) | Evidence/Data Points | Key Citations |
|---|---|---|---|---|---|
| Sarcomere Dysfunction | TTN, MYH7, TNNT2, TNNC1 | Cardiomyocyte | Muscle contraction, sarcomere organization, mechanosensing | TTN truncations (TTNtv) found in 15-25% of familial DCM; truncated titin integrates into sarcomeres ("poison peptide" effect) causing structural defects; altered length-dependent activation. | (arnautu2024geneticsandmolecular pages 5-7, kellermayer2024truncatedtitinis pages 1-2, newman2024dilatedcardiomyopathya pages 7-8, kellermayer2024truncatedtitinis pages 6-7) |
| Nuclear Envelope Instability | LMNA | Cardiomyocyte, Fibroblast | Nuclear organization, chromatin regulation, mechanotransduction | LMNA variants found in 4-8% of all DCM and up to 30% of familial cases with conduction disease; associated with "malignant" phenotype: high fibrosis, arrhythmias, and progression to end-stage HF. | (arnautu2024geneticsandmolecular pages 5-7, arnautu2024geneticsandmolecular pages 7-8, newman2024dilatedcardiomyopathya pages 13-14) |
| Defective RNA Splicing | RBM20 | Cardiomyocyte | mRNA processing, alternative splicing | RBM20 dysfunction causes aberrant splicing of TTN (shift to compliant N2BA isoform) and Ca2+ handling genes (CAMK2D, CACNA1C); forms toxic sarcoplasmic ribonucleoprotein condensates. | (arnautu2024geneticsandmolecular pages 5-7, gregorich2024mechanismsofrbm20 pages 1-3, newman2024dilatedcardiomyopathya pages 7-8) |
| Cytoskeletal & Desmosomal Integrity | DES, FLNC, DSP, PKP2 | Cardiomyocyte | Intermediate filament organization, cell-cell adhesion | FLNC variants linked to high arrhythmic risk even with mild LV dysfunction; DSP variants found in ~13% of transplant cases; disruption leads to cell death and fibrofatty replacement. | (arnautu2024geneticsandmolecular pages 5-7, arnautu2024geneticsandmolecular pages 7-8, newman2024dilatedcardiomyopathya pages 13-14) |
| Fibrosis & Structural Remodeling | Polygenic loci (e.g., HSPB7, BAG3) | Fibroblast, Cardiomyocyte | Extracellular matrix organization, tissue fibrosis | Presence of Late Gadolinium Enhancement (LGE) on CMR is a strong predictor of adverse outcomes: HR 1.81 for all-cause mortality, HR 2.69 for arrhythmic events. | (jurgens2024genomewideassociationstudy pages 1-2, zheng2024genomewideassociationanalysis pages 10-11, eichhorn2024riskstratificationin pages 1-2) |
| Immune & Inflammatory Activation | HLA alleles, Cytokines | T cell (CD3+), Macrophage | Innate/adaptive immune response, cytokine production | Persistence of viral genome or autoimmune reaction triggers chronic inflammation; single-cell transcriptomics reveal distinct immune cell states (e.g., exhausted CD8+ T cells) in DCM hearts. | (vicenzetto2024theroleof pages 1-2, xu2024constructionandevaluation pages 1-2) |
| Ion Channel Dysregulation | SCN5A, PLN | Cardiomyocyte | Cardiac conduction, calcium ion transport | PLN and SCN5A variants disrupt excitation-contraction coupling and impulse propagation, significantly increasing the risk of ventricular arrhythmias and sudden cardiac death. | (arnautu2024geneticsandmolecular pages 5-7, newman2024dilatedcardiomyopathya pages 4-6) |
Table: A summary of core mechanistic pathways in DCM, linking genetic and molecular drivers to specific cellular consequences and clinical evidence from recent literature (2023–2024).
| Category | Entity (Symbol/ID) | Mechanism & Role in DCM | Supporting Contexts |
|---|---|---|---|
| Gene | TTN (HGNC:12403) | Titin: Giant sarcomeric protein. Truncating variants (TTNtv) occur in 15–25% of familial DCM. Mechanisms include haploinsufficiency and a "poison peptide" effect where truncated proteins integrate into the sarcomere, causing structural defects and altered mechanosensing. | (arnautu2024geneticsandmolecular pages 5-7, kellermayer2024truncatedtitinis pages 1-2, newman2024dilatedcardiomyopathya pages 7-8, kellermayer2024truncatedtitinis pages 6-7) |
| Gene | LMNA (HGNC:6636) | Lamin A/C: Nuclear envelope protein. Variants cause "malignant" DCM with high risks of conduction disease, arrhythmia, and sudden death (SCD); prevalence 4–8% overall, up to 30% in familial cases with conduction defects. | (arnautu2024geneticsandmolecular pages 5-7, arnautu2024geneticsandmolecular pages 7-8, newman2024dilatedcardiomyopathya pages 13-14) |
| Gene | RBM20 (HGNC:9907) | RNA Binding Motif 20: Splicing regulator. Dysfunction leads to aberrant splicing of TTN (shift to compliant N2BA isoform) and Ca2+ handling genes (CAMK2D, CACNA1C); formation of toxic sarcoplasmic ribonucleoprotein condensates. | (solaro2024emergingconceptsof pages 1-2, gregorich2024mechanismsofrbm20 pages 1-3, newman2024dilatedcardiomyopathya pages 7-8) |
| Gene | MYH7 (HGNC:7577) | Myosin Heavy Chain 7: Sarcomere motor protein. Variants alter contractile force generation; high penetrance (~90% by age 60); associated with LV noncompaction overlap. | (arnautu2024geneticsandmolecular pages 5-7, newman2024dilatedcardiomyopathya pages 13-14) |
| Gene | FLNC (HGNC:3754) | Filamin C: Cytoskeletal crosslinker. Truncations linked to high arrhythmic risk (ventricular arrhythmias) and fibrosis, even with mild LV dysfunction. | (arnautu2024geneticsandmolecular pages 5-7, arnautu2024geneticsandmolecular pages 7-8, newman2024dilatedcardiomyopathya pages 13-14) |
| Gene | DSP (HGNC:3052) | Desmoplakin: Desmosomal plaque protein. Variants impair cell-cell adhesion; found in ~13% of end-stage DCM/transplant cases; overlap with arrhythmogenic cardiomyopathy. | (arnautu2024geneticsandmolecular pages 5-7, arnautu2024geneticsandmolecular pages 7-8) |
| Gene | BAG3 (HGNC:937) | BAG Cochaperone 3: Chaperone involved in protein quality control/autophagy. Variants cause rapid progression and high penetrance (>80% by age 40). | (arnautu2024geneticsandmolecular pages 5-7, newman2024dilatedcardiomyopathya pages 13-14) |
| Cell Type | Cardiomyocyte (CL:0000746) | Primary affected cell type; central to GWAS enrichment signals; site of sarcomere/nuclear/splicing defects leading to contractile failure. | (jurgens2024genomewideassociationstudy pages 1-2, malinow2024pediatricdilatedcardiomyopathy pages 1-2) |
| Cell Type | T cell (CL:0000084) | Immune infiltration (CD3+, CD4+, CD8+) observed in inflammatory DCM/myocarditis; exhausted/cytotoxic subtypes identified by single-cell sequencing. | (vicenzetto2024theroleof pages 1-2, xu2024constructionandevaluation pages 1-2) |
| Anatomy | Left Ventricle (UBERON:0002084) | Site of primary phenotype: dilation and reduced systolic function (LVEF); remodeling correlates with genetic drivers. | (zheng2024genomewideassociationanalysis pages 10-11, eichhorn2024riskstratificationin pages 1-2) |
| Process | Sarcomere Organization (GO:0045214) | Disrupted by TTN, MYH7, TNNT2 variants; leads to impaired tension generation and faulty mechanotransduction. | (solaro2024emergingconceptsof pages 1-2, kellermayer2024truncatedtitinis pages 1-2, kellermayer2024truncatedtitinis pages 6-7) |
| Process | Alternative Splicing (GO:0000380) | Dysregulated by RBM20 defects; affects protein isoforms determining myocardial stiffness (TTN) and excitation-contraction coupling. | (gregorich2024mechanismsofrbm20 pages 1-3, newman2024dilatedcardiomyopathya pages 7-8) |
| Component | Nuclear Lamina (GO:0005652) | Structural support for nucleus; compromised by LMNA mutations leading to nuclear fragility and altered gene expression. | (arnautu2024geneticsandmolecular pages 3-5, newman2024dilatedcardiomyopathya pages 4-6) |
| Component | Sarcoplasm (GO:0016528) | Site of mutant RBM20 accumulation into biomolecular condensates (processing bodies/granules), interfering with normal physiology. | (gregorich2024mechanismsofrbm20 pages 1-3) |
| Chemical | Calcium Ion (CHEBI:29108) | Intracellular handling disrupted by PLN and RBM20-spliced targets (CACNA1C, CAMK2D); central to arrhythmia mechanism. | (arnautu2024geneticsandmolecular pages 5-7, newman2024dilatedcardiomyopathya pages 7-8) |
| Chemical | Gadolinium (CHEBI:37402) | Contrast agent for CMR. Late Gadolinium Enhancement (LGE) marks fibrosis; predicts mortality (HR 1.81) and arrhythmic events (HR 2.69). | (eichhorn2024riskstratificationin pages 1-2) |
Table: A structured overview of major genes, cell types, anatomical structures, and processes implicated in DCM pathophysiology, mapped to ontology categories and supported by recent evidence.
The retrieved full-text excerpts used in this run primarily exposed DOIs and URLs but did not consistently include PMIDs in the extracted snippets for the key 2023–2024 mechanistic papers (e.g., JCI 2024 TTNtv; JAMA 2024 CMR meta-analysis; Nature Genetics 2024 GWAS; Circ Genom Precis Med 2024 RBM20). Therefore, the report provides publication dates and DOIs/URLs from the retrieved sources, while citing mechanistic claims using the context evidence IDs above. (kellermayer2024truncatedtitinis pages 1-2, eichhorn2024riskstratificationin pages 1-2, gregorich2024mechanismsofrbm20 pages 1-3, jurgens2024genomewideassociationstudy pages 1-2, zheng2024genomewideassociationanalysis pages 10-11)
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