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Dilated Cardiomyopathy

Disease Pathophysiology Research Template

2026-03-06
Falcon MONDO:0005021 Model: Edison Scientific Literature 41 citations

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.

Disease Pathophysiology Research Template

Target Disease

  • Disease Name: Dilated Cardiomyopathy
  • MONDO ID: (if available)
  • Category: Complex

Research Objectives

Please provide a comprehensive research report on the pathophysiology of Dilated Cardiomyopathy. Focus on the molecular and cellular mechanisms underlying disease progression.

Required Information

1. Core Pathophysiology

  • What are the primary pathophysiological mechanisms?
  • What molecular pathways are dysregulated?
  • What cellular processes are affected?

2. Key Molecular Players

  • Genes/Proteins: Which genes are causally involved or implicated?
  • Chemical Entities: What metabolites, drugs, or small molecules are relevant?
  • Cell Types: Which cell types are primarily affected?
  • Anatomical Locations: Which tissues/organs are involved?

3. Biological Processes (for GO annotation)

  • What biological processes (GO terms) are disrupted?
  • Consider: signaling pathways, metabolic processes, cellular responses, transport, etc.

4. Cellular Components

  • Where in the cell do key processes occur?
  • Consider: organelles, membrane compartments, extracellular space, etc.

5. Disease Progression

  • What is the sequence of events from initial trigger to clinical manifestation?
  • Are there distinct stages or phases?

6. Phenotypic Manifestations

  • What are the key clinical phenotypes?
  • How do they relate to the underlying mechanisms?

Citation Requirements

  • Cite primary literature (PMID preferred) for all mechanistic claims
  • Prioritize recent reviews and landmark papers
  • Include direct quotes where possible to support key statements

Output Format

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

Comprehensive Research Report: Dilated Cardiomyopathy (DCM) Pathophysiology (Molecular & Cellular)

Disease identifiers

  • Disease name: Dilated cardiomyopathy (DCM)
  • Category: Complex (heterogeneous; monogenic + polygenic + acquired contributors)
  • Ontology examples in recent resources: Open Targets uses EFO:0000407 (dilated cardiomyopathy) and HP:0001644 (Dilated cardiomyopathy phenotype) (not a MONDO mapping in the retrieved evidence). (arnautu2024geneticsandmolecular pages 5-7)

1) Key concepts and definitions (current understanding)

Clinical definition (phenotype-level)

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)

Genetic architecture: monogenic → oligogenic/polygenic spectrum

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)

Epidemiology (recently updated estimates)

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)

2) Core pathophysiology: primary mechanisms and dysregulated pathways

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.

2.1 Sarcomere dysfunction and mechanosensing failure (central mechanism)

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)

2.2 RNA processing and alternative splicing dysregulation (RBM20 axis)

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)

2.3 Nuclear envelope / mechanotransduction defects (LMNA axis)

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)

2.4 Inflammation and immune activation (especially inflammatory DCM / myocarditis transition)

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)

2.5 Fibrosis and adverse myocardial remodeling (ECM + scar as a downstream integrator)

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)

2.6 Polygenic mechanisms and myocardial resilience (GWAS-era insights)

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)

3) Key molecular players, cell types, and anatomical locations

3.1 Genes/proteins (representative, evidence-supported)

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)

3.2 Cell types

3.3 Anatomical locations

3.4 Chemical entities

4) Biological processes (GO-style) disrupted (for knowledge-base annotation)

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)

5) Cellular components (GO-CC style) where key processes occur

6) Disease progression: sequence of events (trigger → phenotype)

Stage model (integrated)

  1. Initial trigger: rare pathogenic variant (e.g., TTNtv, LMNA, RBM20) and/or acquired injury (e.g., viral myocarditis, toxins), often with gene–environment interaction and sometimes oligogenic background. (eldemire2024geneticsofdilated pages 1-3, newman2024dilatedcardiomyopathya pages 13-14)
  2. Primary cellular dysfunction:
  3. Reduced tension generation and altered mechanotransduction (sarcomere dysfunction). (solaro2024emergingconceptsof pages 1-2, kellermayer2024truncatedtitinis pages 1-2)
  4. Spliceopathy with altered titin isoforms and potentially Ca2+ handling gene splicing (RBM20). (gregorich2024mechanismsofrbm20 pages 1-3, newman2024dilatedcardiomyopathya pages 7-8)
  5. Nuclear envelope dysfunction and conduction/arrhythmia susceptibility (LMNA). (newman2024dilatedcardiomyopathya pages 13-14)
  6. Immune activation and chronic inflammatory injury (myocarditis-to-DCM phases). (xu2024constructionandevaluation pages 1-2)
  7. Maladaptive remodeling: ventricular dilatation, wall thinning, fibrosis, electrical remodeling → arrhythmogenic substrate. (solaro2024emergingconceptsof pages 1-2, eichhorn2024riskstratificationin pages 1-2)
  8. Clinical syndrome: progressive HF, arrhythmias, thromboembolism risk, and in advanced cases transplantation/VAD. Pediatric outcomes can be severe early (nearly 40% transplant/death within 2 years in pediatric DCM review). (malinow2024pediatricdilatedcardiomyopathy pages 1-2)

7) Phenotypic manifestations (clinical phenotypes linked to mechanisms)

8) Recent developments (prioritizing 2023–2024)

8.1 Human-tissue mechanistic resolution of TTNtv controversy (2024)

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)

8.2 RBM20 condensates as a candidate disease mechanism (2024)

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)

8.3 GWAS and single-nucleus transcriptomics define pathways and cell states (2024)

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)

8.4 Imaging biomarkers outrank LVEF for certain endpoints (2024)

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)

9) Current applications and real-world implementations

9.1 Genetic evaluation, counseling, and cascade screening

9.2 CMR tissue characterization for risk stratification

9.3 Precision medicine direction: genotype-informed management

10) Key statistics and recent quantitative findings (selected)

Knowledge-base-ready structured artifacts

Mechanisms summary table

Table (click to expand)
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).

Ontology-style entity mapping table

Table (click to expand)
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.

Evidence items (PMID-first requirement: limitation note)

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)

Source URLs and publication dates (2023–2024 priority)

References

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  2. (eichhorn2024riskstratificationin pages 1-2): Christian Eichhorn, David Koeckerling, Rohin K Reddy, Maddalena Ardissino, Marek Rogowski, Bernadette Coles, Lukas Hunziker, Simon Greulich, Isaac Shiri, Norbert Frey, Jens Eckstein, Stephan Windecker, Raymond Y Kwong, George C M Siontis, and Christoph Gräni. Risk stratification in nonischemic dilated cardiomyopathy using cmr imaging: a systematic review and meta-analysis. JAMA, Sep 2024. URL: https://doi.org/10.1001/jama.2024.13946, doi:10.1001/jama.2024.13946. This article has 34 citations.

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  4. (newman2024dilatedcardiomyopathya pages 1-2): Noah A. Newman and Michael A. Burke. Dilated cardiomyopathy: a genetic journey from past to future. International Journal of Molecular Sciences, 25:11460, Oct 2024. URL: https://doi.org/10.3390/ijms252111460, doi:10.3390/ijms252111460. This article has 19 citations.

  5. (solaro2024emergingconceptsof pages 1-2): R. Solaro, Paul Goldspink, and Beata Wolska. Emerging concepts of mechanisms controlling cardiac tension: focus on familial dilated cardiomyopathy (dcm) and sarcomere-directed therapies. Biomedicines, 12:999, May 2024. URL: https://doi.org/10.3390/biomedicines12050999, doi:10.3390/biomedicines12050999. This article has 5 citations.

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  8. (kellermayer2024truncatedtitinis media 3e1be5e2): Dalma Kellermayer, Hedvig Tordai, Balázs Kiss, György Török, Dániel M. Péter, Alex Ali Sayour, Miklós Pólos, István Hartyánszky, Bálint Szilveszter, Siegfried Labeit, Ambrus Gángó, Gábor Bedics, Csaba Bödör, Tamás Radovits, Béla Merkely, and Miklós S.Z. Kellermayer. Truncated titin is structurally integrated into the human dilated cardiomyopathic sarcomere. Journal of Clinical Investigation, Jan 2024. URL: https://doi.org/10.1172/jci169753, doi:10.1172/jci169753. This article has 26 citations and is from a highest quality peer-reviewed journal.

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  10. (newman2024dilatedcardiomyopathya pages 7-8): Noah A. Newman and Michael A. Burke. Dilated cardiomyopathy: a genetic journey from past to future. International Journal of Molecular Sciences, 25:11460, Oct 2024. URL: https://doi.org/10.3390/ijms252111460, doi:10.3390/ijms252111460. This article has 19 citations.

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