Desmoplakin (DSP) cardiomyopathy is a form of arrhythmogenic cardiomyopathy caused by heterozygous loss-of-function variants in DSP. It has recently emerged as an entity distinct from other genetic cardiomyopathies, characterized by episodic inflammatory "hot phases" mimicking myocarditis, a high risk of sudden cardiac death, left-dominant or biventricular ventricular dysfunction, and fibrofatty myocardial replacement. DSP truncating variants are enriched in patients presenting with acute myocarditis and ventricular arrhythmia. Cutaneous findings including mild palmoplantar keratoderma may be present. Recognition of disease variants with early and predominant left ventricular involvement supports the broader term arrhythmogenic cardiomyopathy rather than restricting to right ventricular disease.
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name: DSP Cardiomyopathy
creation_date: "2026-04-04T00:00:00Z"
updated_date: "2026-04-07T01:26:36Z"
description: >-
Desmoplakin (DSP) cardiomyopathy is a form of arrhythmogenic cardiomyopathy
caused by heterozygous loss-of-function variants in DSP. It has recently
emerged as an entity distinct from other genetic cardiomyopathies, characterized
by episodic inflammatory "hot phases" mimicking myocarditis, a high risk of
sudden cardiac death, left-dominant or biventricular ventricular dysfunction,
and fibrofatty myocardial replacement. DSP truncating variants are enriched
in patients presenting with acute myocarditis and ventricular arrhythmia.
Cutaneous findings including mild palmoplantar keratoderma may be present.
Recognition of disease variants with early and predominant left ventricular
involvement supports the broader term arrhythmogenic cardiomyopathy rather
than restricting to right ventricular disease.
category: Genetic
parents:
- Arrhythmogenic Cardiomyopathy
- Desmosomal Disease
disease_term:
preferred_term: arrhythmogenic right ventricular dysplasia 8
term:
id: MONDO:0011831
label: arrhythmogenic right ventricular dysplasia 8
prevalence:
- population: Global
percentage: Rare
inheritance:
- name: Autosomal Dominant
inheritance_term:
preferred_term: Autosomal dominant inheritance
term:
id: HP:0000006
label: Autosomal dominant inheritance
pathophysiology:
- name: Desmoplakin Haploinsufficiency — Desmosomal Disruption
description: >-
Desmoplakin is the most abundant protein in desmosomes, linking the
transmembranous desmosomal cadherins to the intermediate filament network.
Heterozygous truncating variants in DSP lead to haploinsufficiency,
weakening the desmosomal complex in cardiomyocytes. The left ventricle
is frequently involved early, distinguishing DSP cardiomyopathy from
classic right-dominant ARVC.
genes:
- preferred_term: DSP
term:
id: hgnc:3052
label: DSP
molecular_functions:
- preferred_term: structural constituent of cytoskeleton
term:
id: GO:0005200
label: structural constituent of cytoskeleton
biological_processes:
- preferred_term: Desmosome organization
term:
id: GO:0002934
label: desmosome organization
modifier: DECREASED
- preferred_term: Cell-cell junction assembly
term:
id: GO:0007043
label: cell-cell junction assembly
modifier: DECREASED
evidence:
- reference: PMID:40600431
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Cardiomyopathy caused by pathogenic variants in the desmoplakin
gene has recently emerged as an entity distinct from other genetic
cardiomyopathies.
explanation: >-
Recent review establishing DSP cardiomyopathy as a distinct entity.
- reference: PMID:17372169
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Recognition of disease variants with early and/or predominant LV
involvement supports adoption of the broader term arrhythmogenic
cardiomyopathy.
explanation: >-
Key paper establishing left-dominant pattern in desmoplakin disease.
downstream:
- target: Cardiomyocyte Detachment and Myocyte Death
- name: Cardiomyocyte Detachment and Myocyte Death
description: >-
Desmosomal disruption impairs mechanical coupling between cardiomyocytes,
leading to cell detachment and myocyte death under mechanical stress.
This triggers an inflammatory response and progressive loss of functional
myocardium.
cell_types:
- preferred_term: Cardiac muscle cell
term:
id: CL:0000746
label: cardiac muscle cell
locations:
- preferred_term: Myocardium
term:
id: UBERON:0002349
label: myocardium
downstream:
- target: Fibrofatty Myocardial Replacement
- name: Fibrofatty Myocardial Replacement
description: >-
Progressive fibrofatty replacement of the myocardium follows cardiomyocyte
loss. This remodeling creates substrates for re-entrant arrhythmias and
contributes to ventricular dysfunction.
locations:
- preferred_term: Heart
term:
id: UBERON:0000948
label: heart
downstream:
- target: Arrhythmogenesis and Sudden Cardiac Death
- name: Arrhythmogenesis and Sudden Cardiac Death
description: >-
Progressive fibrofatty replacement of myocardium creates substrates for
re-entrant ventricular arrhythmias. DSP cardiomyopathy carries a high
risk of sudden cardiac death, which can occur even before overt structural
disease is detected. Episodic inflammatory "hot phases" mimicking
myocarditis may trigger arrhythmic events.
cell_types:
- preferred_term: Cardiac muscle cell
term:
id: CL:0000746
label: cardiac muscle cell
locations:
- preferred_term: Heart
term:
id: UBERON:0000948
label: heart
evidence:
- reference: PMID:40600431
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Desmoplakin cardiomyopathy may be characterized by episodic "hot
phases", cutaneous findings, and a high risk of sudden cardiac death.
explanation: >-
Describes the distinctive clinical features of DSP cardiomyopathy
including hot phases and SCD risk.
- reference: PMID:36154167
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
This was driven predominantly by DSP-tv in patients with normal LV
ejection fraction and ventricular arrhythmia.
explanation: >-
DSP truncating variants enriched in myocarditis patients with
preserved LVEF and arrhythmia, supporting arrhythmogenic mechanism.
phenotypes:
- category: Cardiovascular
name: Ventricular Arrhythmia
frequency: Very frequent
description: >-
Ventricular tachycardia and fibrillation are major features, often
preceding structural abnormalities. High risk of sudden cardiac death.
phenotype_term:
preferred_term: Ventricular arrhythmia
term:
id: HP:0004308
label: Ventricular arrhythmia
evidence:
- reference: PMID:36154167
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
DSP-tv in patients with normal LV ejection fraction and ventricular
arrhythmia
explanation: >-
DSP truncating variants associated with ventricular arrhythmia
even with preserved ejection fraction.
- category: Cardiovascular
name: Dilated Cardiomyopathy
frequency: Frequent
description: >-
Left ventricular dilation and systolic dysfunction, often with
left-dominant or biventricular pattern. May present initially as
myocarditis-like episodes.
phenotype_term:
preferred_term: Dilated cardiomyopathy
term:
id: HP:0001644
label: Dilated cardiomyopathy
evidence:
- reference: PMID:17372169
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
left dominant, with early and prominent LV manifestations and
relatively mild right-sided disease
explanation: >-
Identifies left-dominant cardiomyopathy as a distinct DSP pattern.
- category: Cardiovascular
name: Sudden Cardiac Death
frequency: Occasional
description: >-
Sudden cardiac death can be the presenting event. Gene-specific
risk factors are being elucidated.
phenotype_term:
preferred_term: Sudden cardiac death
term:
id: HP:0001645
label: Sudden cardiac death
evidence:
- reference: PMID:40600431
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
a high risk of sudden cardiac death. Gene-specific risk factors
for sudden cardiac death have begun to be elucidated.
explanation: >-
Confirms high SCD risk in DSP cardiomyopathy.
- category: Dermatologic
name: Mild Cutaneous Findings
frequency: Occasional
description: >-
Some heterozygous DSP carriers have mild palmoplantar keratoderma
or curly hair, though these are not always present.
phenotype_term:
preferred_term: Palmoplantar keratoderma
term:
id: HP:0000982
label: Palmoplantar keratoderma
notes: >-
Cutaneous findings are variably present and less well-characterized
than cardiac features. The available abstract-level evidence for this
phenotype is limited to a brief mention; confidence is lower than for
the cardiac phenotypes.
evidence:
- reference: PMID:40600431
supports: PARTIAL
evidence_source: HUMAN_CLINICAL
snippet: >-
cutaneous findings
explanation: >-
Brief mention of cutaneous features; snippet is minimal and does
not describe specific skin findings in detail.
genetic:
- name: DSP Heterozygous Truncating Variants
association: Pathogenic Variants
gene_term:
preferred_term: DSP
term:
id: hgnc:3052
label: DSP
inheritance:
- name: Autosomal Dominant
inheritance_term:
preferred_term: Autosomal dominant inheritance
term:
id: HP:0000006
label: Autosomal dominant inheritance
features: >-
Heterozygous loss-of-function (truncating) variants predominate.
Incomplete penetrance and variable expressivity. Left-dominant pattern
associated with chain-termination mutations.
evidence:
- reference: PMID:17372169
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
the extent of which often was marked among individuals with
chain-termination mutations and/or desmoplakin disease
explanation: >-
Chain-termination DSP mutations associated with more severe LV
involvement.
- reference: PMID:36154167
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
enrichment of rare truncating variants (tv) in ACM-associated genes
(3.1% of cases versus 0.4% of controls; odds ratio, 8.2; P=0.001).
This was driven predominantly by DSP-tv
explanation: >-
DSP truncating variants significantly enriched in myocarditis
patients vs controls.
treatments:
- name: Implantable Cardioverter Defibrillator
description: >-
ICD implantation for primary or secondary prevention of sudden
cardiac death in high-risk patients.
treatment_term:
preferred_term: ICD implantation
term:
id: MAXO:0000004
label: surgical procedure
- name: Antiarrhythmic Therapy
description: >-
Antiarrhythmic medications and catheter ablation for ventricular
arrhythmia management.
treatment_term:
preferred_term: Antiarrhythmic therapy
term:
id: NCIT:C15986
label: Pharmacotherapy
- name: Heart Failure Management
description: >-
Standard heart failure pharmacotherapy for systolic dysfunction.
Advanced therapies including transplantation for end-stage disease.
treatment_term:
preferred_term: Heart failure management
term:
id: NCIT:C15986
label: Pharmacotherapy
- name: Genetic Counseling
description: >-
Genetic counseling and cascade screening of first-degree relatives.
Exercise restriction may be recommended given association with
disease progression in endurance athletes.
treatment_term:
preferred_term: Genetic counseling
term:
id: MAXO:0000079
label: genetic counseling
evidence:
- reference: PMID:36154167
supports: SUPPORT
evidence_source: HUMAN_CLINICAL
snippet: >-
Genetic counseling and testing should be considered in patients
with acute myocarditis
explanation: >-
Recommends genetic testing in myocarditis patients to identify
DSP carriers.
datasets:
Question: You are an expert researcher providing comprehensive, well-cited information.
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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.
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DSP cardiomyopathy is an inherited, desmosome-related arrhythmogenic cardiomyopathy typically characterized by left-ventricular (LV)–predominant myocardial scarring (often subepicardial LGE on CMR), episodic “myocarditis-like” myocardial injury (“hot phases”), and a high burden of ventricular arrhythmias and heart-failure outcomes. The disorder is increasingly conceptualized within the spectrum of “scarring/arrhythmogenic cardiomyopathy”, where non-ischemic scar is the central arrhythmogenic substrate, and modern diagnostic criteria explicitly incorporate LV phenotypes and CMR tissue characterization (Padua 2020; European Task Force 2023) (smith2020desmoplakincardiomyopathya pages 1-3, wang2022clinicalcharacteristicsand pages 1-2, brandao2023desmoplakincardiomyopathycomprehensive pages 2-4, graziano2024the2023european pages 1-2, corrado2023scarringarrhythmogeniccardiomyopathy pages 1-2).
| Domain | Key points (1-3 bullets) | Key quantitative stats (if any) | Key sources (first author year journal) with PMID if known | URL |
|---|---|---|---|---|
| Definition/Concept | - Distinct inherited arrhythmogenic cardiomyopathy centered on DSP (desmoplakin) with frequent left-ventricular-predominant disease, extensive fibrosis, high arrhythmic risk, and recurrent myocarditis-like/“hot phase” myocardial injury episodes. - Increasingly framed within scarring/arrhythmogenic cardiomyopathy (S/ACM), where non-ischemic scar is the core substrate for ventricular arrhythmias. - Disease definition and recognition improved after LV-inclusive criteria and broader use of CMR/genetics. (brandao2023desmoplakincardiomyopathycomprehensive pages 2-4, graziano2024the2023european pages 1-2, brandao2023desmoplakincardiomyopathycomprehensive pages 1-2) |
- P/LP DSP variants found in a large proportion of ALVC patients: ~57% in review-cited data. (brandao2023desmoplakincardiomyopathycomprehensive pages 1-2) | Brandão 2023 J Clin Med; Graziano 2024 Rev Cardiovasc Med; Corrado 2023 Eur Heart J Suppl; Smith 2020 Circulation | https://doi.org/10.3390/jcm12072660 ; https://doi.org/10.31083/j.rcm2509348 ; https://doi.org/10.1093/eurheartjsupp/suad017 ; https://doi.org/10.1161/CIRCULATIONAHA.119.044934 |
| Key phenotypes | - LV-predominant, biventricular, and less often RV-predominant phenotypes occur; DSP disease is characteristically left-sided compared with classic PKP2-ARVC. - Recurrent myocardial injury / myocarditis-like episodes: chest pain, troponin rise, normal coronaries. - Frequent ventricular ectopy/arrhythmias; some patients also have curly/woolly hair and palmoplantar keratoderma. (smith2020desmoplakincardiomyopathya pages 4-6, wang2022clinicalcharacteristicsand pages 1-2, brandao2023desmoplakincardiomyopathycomprehensive pages 2-4) |
- LV-predominant disease: 55% in 2020 multicenter DSP cohort; RV-predominant 14%. (smith2020desmoplakincardiomyopathya pages 1-3) - In 2022 cohort: left-predominant 28%, biventricular 15%, right-predominant 6%. (wang2022clinicalcharacteristicsand pages 1-2) - Myocardial injury episodes: 15% (2020 cohort) and 22% (2022 cohort). (smith2020desmoplakincardiomyopathya pages 1-3, wang2022clinicalcharacteristicsand pages 1-2) |
Smith 2020 Circulation; Wang 2022 Europace; Brandão 2023 J Clin Med | https://doi.org/10.1161/CIRCULATIONAHA.119.044934 ; https://doi.org/10.1093/europace/euab183 ; https://doi.org/10.3390/jcm12072660 |
| Imaging/CMR | - CMR is the imaging modality of choice for ACM spectrum disease because it combines biventricular morpho-functional assessment with tissue characterization. - DSP cardiomyopathy typically shows subepicardial LV LGE, often inferolateral/posterolateral and sometimes ring-like; scar may precede overt systolic dysfunction. - LV LGE can be disproportionate to LV dysfunction and helps distinguish DSP disease from generic DCM, though myocarditis/sarcoid remain key differentials. (cipriani2023cardiacmagneticresonance pages 1-2, smith2020desmoplakincardiomyopathya pages 4-6, brandao2023desmoplakincardiomyopathycomprehensive pages 2-4) |
- LV LGE in DSP cohort: 40% overall among those with MRI; 74% of LV-predominant cases had LV LGE. (smith2020desmoplakincardiomyopathya pages 4-6) - LGE without LV systolic dysfunction: 26% in one summary; 35% of LGE cases in 2020 cohort. (smith2020desmoplakincardiomyopathya pages 4-6, smith2020desmoplakincardiomyopathya pages 1-3) - Among myocardial injury cases, LV LGE association ~90%. (smith2020desmoplakincardiomyopathya pages 1-3) |
Cipriani 2023 Eur Radiol; Galizia 2024 RadioGraphics; Augusto 2020 Eur Heart J Cardiovasc Imaging; Smith 2020 Circulation | https://doi.org/10.1007/s00330-022-08958-2 ; https://doi.org/10.1148/rg.230154 ; https://doi.org/10.1093/ehjci/jez188 ; https://doi.org/10.1161/CIRCULATIONAHA.119.044934 |
| Genetics/inheritance | - Caused by germline pathogenic/likely pathogenic DSP variants; disease is usually autosomal dominant with variable penetrance/expressivity. - Variants are predominantly truncating/non-missense, while missense variants may cluster in functional binding domains. - DSP is a desmosomal gene; testing is especially informative in LV-dominant ACM/DCM overlap and recurrent myocarditis-like presentations. (smith2020desmoplakincardiomyopathya pages 8-10, chua2023understandingarrhythmogeniccardiomyopathy pages 1-3, wang2022clinicalcharacteristicsand pages 2-3) |
- DSP variants reported in 3–15% of ARVC patients. (wang2022clinicalcharacteristicsand pages 2-3) - In the 2020 cohort, DSP mutations were predominantly truncating: 105/107 patients. (smith2020desmoplakincardiomyopathya pages 4-6) |
Smith 2020 Circulation; Wang 2022 Europace; Chua 2023 Genes | https://doi.org/10.1161/CIRCULATIONAHA.119.044934 ; https://doi.org/10.1093/europace/euab183 ; https://doi.org/10.3390/genes14101864 |
| Mechanism/pathophysiology | - Upstream lesion: desmosomal dysfunction at intercalated discs impairs cardiomyocyte adhesion under mechanical stress. - Proposed causal chain: defective desmosomal linkage → myocyte detachment/injury/death → inflammation and recurrent “hot phases” → fibrous/fibrofatty scar formation → ventricular dysfunction and scar-related arrhythmias. - Exercise may accelerate phenotypic expression in susceptible carriers; inflammation can mimic myocarditis or sarcoidosis. (corrado2023scarringarrhythmogeniccardiomyopathy pages 1-2, smith2020desmoplakincardiomyopathya pages 8-10, chua2023understandingarrhythmogeniccardiomyopathy pages 1-3) |
- Desmosomal genes account for ~30–50% of ACM overall. (chua2023understandingarrhythmogeniccardiomyopathy pages 1-3, chua2023understandingarrhythmogeniccardiomyopathy pages 3-4) | Corrado 2023 Eur Heart J Suppl; Chua 2023 Genes; Smith 2020 Circulation | https://doi.org/10.1093/eurheartjsupp/suad017 ; https://doi.org/10.3390/genes14101864 ; https://doi.org/10.1161/CIRCULATIONAHA.119.044934 |
| Diagnostics | - Diagnosis should be multiparametric: ECG/Holter, echocardiography, CMR with LGE, arrhythmia assessment, family history, and genetic testing. - The older 2010 ARVC Task Force Criteria under-detect DSP disease, especially LV-dominant forms; CMR and genetics materially improve detection. - Cascade evaluation of relatives is recommended in inherited cardiomyopathy practice. (wang2022clinicalcharacteristicsand pages 8-9, cipriani2023cardiacmagneticresonance pages 1-2, mauriello2024arrhythmogenicleftventricular pages 1-2) |
- Sensitivity of 2010 TFC for left-dominant DSP disease: 0.73; 23% of patients with sustained arrhythmias in one cohort did not meet criteria. (wang2022clinicalcharacteristicsand pages 1-2) - Only 34% met definite ARVC criteria in 2020 DSP cohort. (smith2020desmoplakincardiomyopathya pages 4-6) |
Wang 2022 Europace; Cipriani 2023 Eur Radiol; Mauriello 2024 J Clin Med; Korthals 2023 Herzschr Elektrophysiol | https://doi.org/10.1093/europace/euab183 ; https://doi.org/10.1007/s00330-022-08958-2 ; https://doi.org/10.3390/jcm13071835 ; https://doi.org/10.1007/s00399-023-00975-y |
| Outcomes/statistics | - DSP cardiomyopathy carries substantial risk of sustained ventricular arrhythmia, heart failure, transplant, and SCD. - Myocardial injury/hot-phase presentations are associated with worse subsequent outcomes in cohort data. - Arrhythmic risk may occur even when LVEF is only mildly reduced, so standard low-EF thresholds can miss risk. (wang2022clinicalcharacteristicsand pages 1-2, smith2020desmoplakincardiomyopathya pages 8-10) |
- Severe ventricular arrhythmia composite in 2020 DSP cohort: 28% (30/107). (smith2020desmoplakincardiomyopathya pages 8-10) - Incidence rates in 2022 cohort: sustained ventricular arrhythmia 5.9/100 person-years; heart failure 6.7/100 person-years. (wang2022clinicalcharacteristicsand pages 1-2) - Myocardial injury associated with sustained ventricular arrhythmia HR 2.53 and heart failure HR 7.53 (univariate). (wang2022clinicalcharacteristicsand pages 1-2) |
Smith 2020 Circulation; Wang 2022 Europace | https://doi.org/10.1161/CIRCULATIONAHA.119.044934 ; https://doi.org/10.1093/europace/euab183 |
| Management/applications | - Real-world management includes guideline-directed HF therapy, arrhythmia surveillance, and ICD placement for selected high-risk patients; ICD is the only proven life-saving therapy in ACM broadly. - Management is increasingly genotype- and phenotype-informed, considering fibrosis burden, ventricular function, arrhythmic history, and progression. - In recurrent inflammatory/hot-phase presentations, case literature reports individualized use of immunosuppression, but evidence remains limited. (corrado2023scarringarrhythmogeniccardiomyopathy pages 1-2, fatrous2025desmoplakincardiomyopathymyocarditislike pages 5-6, brandao2023desmoplakincardiomyopathycomprehensive pages 9-11) |
- High device utilization reported in a genotype-first DSP series: 68% underwent primary/secondary prevention ICD implantation; 16% underwent VT ablation; 11% reached transplant. (reza2022cardiovascularcharacteristicsof pages 2-4) | Corrado 2023 Eur Heart J Suppl; Korthals 2023 Herzschr Elektrophysiol; Reza 2022 Cardiogenetics; Fatrous 2025 Cureus | https://doi.org/10.1093/eurheartjsupp/suad017 ; https://doi.org/10.1007/s00399-023-00975-y ; https://doi.org/10.3390/cardiogenetics12010003 ; https://doi.org/10.7759/cureus.87311 |
| Recent criteria/guidelines | - 2020 Padua criteria and subsequent 2023 European Task Force criteria explicitly incorporate LV phenotypes and CMR tissue characterization, addressing historic under-recognition of left-dominant disease. - 2023 ESC cardiomyopathy guidance emphasizes multimodal imaging, genetic testing, individualized etiology-focused management, and patient pathways from presentation to diagnosis. - These changes are especially relevant for DSP cardiomyopathy because of its LV scar-predominant phenotype. (graziano2024the2023european pages 1-2, cipriani2023cardiacmagneticresonance pages 1-2, mauriello2024arrhythmogenicleftventricular pages 1-2) |
- In review-cited DSP cohorts, definite diagnosis improved from ~42–51% by older ITF criteria to ~67% using Padua criteria. (brandao2023desmoplakincardiomyopathycomprehensive pages 2-4) | Graziano 2024 Rev Cardiovasc Med; Cipriani 2023 Eur Radiol; Korthals 2023 Herzschr Elektrophysiol; Brandão 2023 J Clin Med | https://doi.org/10.31083/j.rcm2509348 ; https://doi.org/10.1007/s00330-022-08958-2 ; https://doi.org/10.1007/s00399-023-00975-y ; https://doi.org/10.3390/jcm12072660 |
| Models | - hiPSC-derived cardiomyocytes are a leading 2023 model platform for desmosomal ACM, enabling mechanistic studies and drug screening in human cells. - Animal models support desmosomal disease biology, showing myocardial injury, inflammation, fibrosis/fibrofatty remodeling, and structural degeneration under desmosomal perturbation. - DSP-specific human mechanistic modeling remains less mature than PKP2-focused work, but the framework is directly relevant. (chua2023understandingarrhythmogeniccardiomyopathy pages 1-3, chua2023understandingarrhythmogeniccardiomyopathy pages 3-4, corrado2023scarringarrhythmogeniccardiomyopathy pages 1-2) |
- No DSP-specific quantitative model benchmark reported in the extracted passages. | Chua 2023 Genes; Corrado 2023 Eur Heart J Suppl | https://doi.org/10.3390/genes14101864 ; https://doi.org/10.1093/eurheartjsupp/suad017 |
Table: This table condenses the main disease-characteristic domains for DSP cardiomyopathy for knowledge-base use. It prioritizes 2023-2024 conceptual and criteria updates while retaining landmark 2020-2022 cohort statistics for phenotype and outcome estimates.
DSP cardiomyopathy (also called desmoplakin cardiomyopathy) is a genetic arrhythmogenic cardiomyopathy caused by pathogenic/likely pathogenic (P/LP) variants in DSP (desmoplakin), with a phenotype that is often LV-dominant and marked by fibrosis/scar that can precede overt systolic dysfunction, recurrent myocardial injury episodes, and substantial ventricular arrhythmia risk (smith2020desmoplakincardiomyopathya pages 1-3, wang2022clinicalcharacteristicsand pages 1-2, brandao2023desmoplakincardiomyopathycomprehensive pages 2-4).
A landmark cohort study explicitly described it as “a fibrotic and inflammatory form of cardiomyopathy distinct from typical dilated or arrhythmogenic right ventricular cardiomyopathy” (Circulation, Jun 2020) (smith2020desmoplakincardiomyopathya pages 4-6).
Within the retrieved full-text evidence set for this run, explicit OMIM/Orphanet/ICD-10/ICD-11/MeSH/MONDO identifiers for “DSP cardiomyopathy” were not present. Therefore, these identifiers cannot be reliably populated from the tool-retrieved sources alone.
Commonly used labels in the literature include: - Desmoplakin cardiomyopathy (brandao2023desmoplakincardiomyopathycomprehensive pages 2-4) - DSP cardiomyopathy / DSP-related cardiomyopathy (wang2022clinicalcharacteristicsand pages 1-2, wang2022clinicalcharacteristicsand pages 2-3) - DSP-associated arrhythmogenic cardiomyopathy / left-dominant arrhythmogenic cardiomyopathy (ALVC) due to DSP (brandao2023desmoplakincardiomyopathycomprehensive pages 1-2) - Conceptually grouped under scarring/arrhythmogenic cardiomyopathy (S/ACM) (corrado2023scarringarrhythmogeniccardiomyopathy pages 1-2)
Most disease-characteristic claims in this report are derived from aggregated disease-level resources (systematic reviews and diagnostic-criteria reviews) plus observational human cohorts of DSP P/LP variant carriers with longitudinal outcomes and imaging correlations (smith2020desmoplakincardiomyopathya pages 1-3, wang2022clinicalcharacteristicsand pages 1-2, brandao2023desmoplakincardiomyopathycomprehensive pages 2-4, corrado2023scarringarrhythmogeniccardiomyopathy pages 1-2).
Primary cause: Germline P/LP DSP variants affecting desmoplakin, a desmosomal protein that anchors intermediate filaments at the cardiomyocyte intercalated disc (wang2022clinicalcharacteristicsand pages 2-3).
A DSP cohort study highlighted that variants were predominantly truncating in that cohort, and that disease is frequently LV-predominant with fibrotic/inflammatory features (smith2020desmoplakincardiomyopathya pages 4-6, smith2020desmoplakincardiomyopathya pages 1-3).
No protective genetic or environmental factors were explicitly identified in the retrieved evidence set.
A proposed interaction is genetically defective desmosomal adhesion + mechanical stress (e.g., exercise) → cardiomyocyte detachment/injury → scar formation and arrhythmic substrate (corrado2023scarringarrhythmogeniccardiomyopathy pages 1-2). However, specific quantitative GxE estimates were not present in the retrieved sources.
Below, frequencies/statistics are from human cohorts when available.
1) Myocardial injury / myocarditis-like (“hot phase”) episodes - Phenotype type: symptom complex (chest pain) + lab abnormality (troponin elevation) with non-obstructive coronaries; can mimic acute myocarditis or ACS (smith2020desmoplakincardiomyopathya pages 1-3, wang2022clinicalcharacteristicsand pages 1-2). - Frequency: 15% in a 107-patient DSP cohort (Circulation 2020) (smith2020desmoplakincardiomyopathya pages 1-3); 22% in a 91-person cohort (Europace 2022) (wang2022clinicalcharacteristicsand pages 1-2). - Characteristics: may occur even with normal systolic function; strongly associated with LV scar/LGE (smith2020desmoplakincardiomyopathya pages 1-3). - Suggested HPO terms: Chest pain (HP:0100749); Elevated cardiac troponin I (HP:0033427) / Elevated cardiac troponin T (HP:0033428).
2) Ventricular arrhythmias / high ectopic burden - Phenotype type: electrophysiologic abnormality. - Data: In a 2020 DSP cohort, frequent PVCs were common (Holter subset) and severe ventricular arrhythmia composite occurred in 28% (smith2020desmoplakincardiomyopathya pages 4-6, smith2020desmoplakincardiomyopathya pages 8-10). - Suggested HPO terms: Ventricular tachycardia (HP:0004756); Premature ventricular contractions (HP:0006689); Sudden cardiac death (HP:0001645).
3) LV-dominant or biventricular cardiomyopathy with fibrosis/scar - Phenotype type: structural cardiac abnormality. - Frequencies: In a 2020 cohort, LV-predominant cardiomyopathy 55% and RV-predominant 14% (smith2020desmoplakincardiomyopathya pages 1-3). In a 2022 cohort, left-predominant 28%, biventricular 15%, right-predominant 6% (wang2022clinicalcharacteristicsand pages 1-2). - Suggested HPO terms: Cardiomyopathy (HP:0001638); Left ventricular dysfunction (HP:0025169) (or reduced ejection fraction term if needed).
4) Cutaneous features in a subset (cardiocutaneous overlap) - Curly/woolly hair and palmoplantar keratoderma are reported in DSP cohorts/reviews (smith2020desmoplakincardiomyopathya pages 4-6, brandao2023desmoplakincardiomyopathycomprehensive pages 1-2). - Suggested HPO terms: Palmoplantar keratoderma (HP:0000972); Woolly hair (HP:0002217).
QoL instruments (e.g., SF-36, EQ-5D, PROMIS) and quantitative QoL outcomes were not reported in the retrieved evidence set.
No DSP-specific modifier loci or epigenetic mechanisms were directly evidenced in the retrieved texts. However, a clinical trial explicitly investigates feasibility of epigenetic analysis of desmosomal genes including DSP from cardiomyocyte-derived DNA (NCT03177018) (NCT03177018 chunk 1).
DSP cardiomyopathy can mimic infectious myocarditis clinically, but no specific pathogen etiologies were assigned in the retrieved evidence.
A synthesis supported by authoritative reviews and cohort observations: 1) DSP variant → desmosomal dysfunction: defective desmosomal proteins impair cardiomyocyte cell–cell adhesion at intercalated discs (corrado2023scarringarrhythmogeniccardiomyopathy pages 1-2, chua2023understandingarrhythmogeniccardiomyopathy pages 1-3). 2) Mechanical stress/exercise → cardiomyocyte detachment and injury/death: impaired cohesion under stress promotes myocyte detachment/necrosis (corrado2023scarringarrhythmogeniccardiomyopathy pages 1-2). 3) Inflammation and “hot phases”: episodic inflammatory flares can manifest with chest pain and troponin release and can be misdiagnosed as myocarditis/sarcoidosis; FDG-PET and limited histology in DSP cohorts support myocardial inflammation during injury episodes (smith2020desmoplakincardiomyopathya pages 1-3, smith2020desmoplakincardiomyopathya pages 8-10). 4) Fibrous/fibrofatty replacement (scar): myocyte loss is followed by fibrous or fibro-fatty replacement, forming the arrhythmogenic substrate (corrado2023scarringarrhythmogeniccardiomyopathy pages 1-2). 5) Clinical consequences: scar predisposes to ventricular arrhythmias/sudden death and contributes to systolic dysfunction/heart failure (corrado2023scarringarrhythmogeniccardiomyopathy pages 1-2, wang2022clinicalcharacteristicsand pages 1-2).
Evidence-backed processes include: - Cell–cell adhesion and intercalated-disc integrity disruption (mechanistic framing in S/ACM and desmosomal ACM reviews) (corrado2023scarringarrhythmogeniccardiomyopathy pages 1-2, chua2023understandingarrhythmogeniccardiomyopathy pages 1-3). - Inflammatory response during hot phases (smith2020desmoplakincardiomyopathya pages 1-3, corrado2023scarringarrhythmogeniccardiomyopathy pages 1-2). - Fibrosis/scar formation (corrado2023scarringarrhythmogeniccardiomyopathy pages 1-2).
Suggested GO Biological Process terms (examples): - Cell–cell adhesion (GO:0098609) - Inflammatory response (GO:0006954) - Extracellular matrix organization (GO:0030198) - Cardiac muscle cell death (e.g., apoptosis/necrosis-related terms, depending on curation level)
No DSP-specific omics signatures were present in the retrieved texts.
Suggested UBERON terms: - Heart (UBERON:0000948) - Left ventricle (UBERON:0002084) - Right ventricle (UBERON:0002080)
Desmosomal dysfunction at the intercalated disc is central (desmosome/intercalated disc context in desmosomal ACM reviews) (chua2023understandingarrhythmogeniccardiomyopathy pages 1-3).
Suggested GO Cellular Component terms: - Desmosome (GO:0030057) - Intercalated disc (GO:0014704)
A four-phase conceptual model of desmosomal arrhythmogenic cardiomyopathy progression (concealed → overt electrical → structural fibrofatty → end-stage HF) is described in desmosomal ACM modeling reviews (chua2023understandingarrhythmogeniccardiomyopathy pages 3-4).
Population prevalence/incidence for DSP cardiomyopathy was not provided in the retrieved evidence.
DSP P/LP variants are reported in 3–15% of ARVC patients (note: ARVC-focused estimate, not population prevalence) (wang2022clinicalcharacteristicsand pages 2-3).
A diagnostic approach supported by cohort evidence and criteria reviews includes: - ECG and ambulatory monitoring (PVCs/VT burden) (smith2020desmoplakincardiomyopathya pages 4-6). - Echocardiography for ventricular size/function; used as first-line in LV arrhythmogenic cardiomyopathy reviews (mauriello2024arrhythmogenicleftventricular pages 1-2). - Cardiac magnetic resonance (CMR) for tissue characterization, scar detection (LGE), and biventricular assessment; repeatedly emphasized as imaging of choice in ACM (cipriani2023cardiacmagneticresonance pages 1-2). - Genetic testing for desmosomal genes including DSP, particularly in LV-dominant scarring phenotypes or recurrent myocarditis-like presentations (smith2020desmoplakincardiomyopathya pages 1-3, wang2022clinicalcharacteristicsand pages 1-2).
LV-dominant arrhythmogenic cardiomyopathy can mimic myocarditis and should be distinguished from sarcoidosis and dilated cardiomyopathy using imaging patterning, multimodal evaluation, and genetics (smith2020desmoplakincardiomyopathya pages 1-3, mauriello2024arrhythmogenicleftventricular pages 1-2).
Evidence in this run supports cascade screening practices in genotype-first DSP cohorts and broader genetic cardiomyopathy surveillance strategies (reza2022cardiovascularcharacteristicsof pages 2-4, NCT06446271 chunk 1).
Limited case literature reports the use of immunosuppressive strategies in selected recurrent myocarditis-like DSP presentations; however, high-quality evidence for standardized immunosuppression is not established in the retrieved DSP-specific evidence set (fatrous2025desmoplakincardiomyopathymyocarditislike pages 5-6).
Suggested MAXO terms for curation (examples): - Implantable cardioverter-defibrillator implantation - Beta-blocker therapy - ACE inhibitor therapy - Catheter ablation of ventricular tachycardia (not directly supported by retrieved primary text here; included only as a general ACM action type)
No naturally occurring DSP cardiomyopathy in non-human species (e.g., companion animals) was identified in the retrieved evidence.
Human induced pluripotent stem cell (hiPSC)-derived cardiomyocytes are emphasized as a reproducible and scalable platform to model desmosome-related arrhythmogenic cardiomyopathy (including DSP as a causal gene), supporting mechanistic studies and drug screening in human cells (Sep 2023) (chua2023understandingarrhythmogeniccardiomyopathy pages 1-3, chua2023understandingarrhythmogeniccardiomyopathy pages 3-4).
Authoritative S/ACM review literature discusses animal-model evidence of early cardiomyocyte injury features (e.g., sarcolemmal disruption, mitochondrial swelling, cardiomyocyte necrosis) in a transgenic mouse model context, supporting the injury → scar concept (corrado2023scarringarrhythmogeniccardiomyopathy pages 1-2).
Key 2023–2024 themes captured by tool-retrieved sources: 1) Formalization of “scarring/arrhythmogenic cardiomyopathy”: Emphasis on non-ischemic scar as the diagnostic and arrhythmogenic core substrate (Apr 2023) (corrado2023scarringarrhythmogeniccardiomyopathy pages 1-2). 2) Criteria modernization for LV phenotypes: Reviews of evolving criteria highlight the shift from 2010 RV-centered criteria toward Padua (2020) and European Task Force (2023) LV-inclusive frameworks (Sep 2024) (graziano2024the2023european pages 1-2). 3) CMR centrality: 2023 imaging reviews consolidate CMR as the imaging technique of choice for tissue characterization across ACM phenotypes, particularly LV variants (Jul 2023) (cipriani2023cardiacmagneticresonance pages 1-2). 4) hiPSC modeling: 2023 methodological progress highlights hiPSC-CM platforms for desmosomal ACM mechanistic and therapeutic discovery, relevant to DSP disease-modification research (Sep 2023) (chua2023understandingarrhythmogeniccardiomyopathy pages 1-3).
1) Hybrid PET-MR characterization of genetic arrhythmogenic cardiomyopathies (CharACTPET-MR) - NCT: NCT05450783; recruiting (last update posted 2024-12-02). - Includes gene carriers with pathogenic/likely pathogenic variants in multiple genes including DSP. - Primary aim: characterize LV PET-MRI patterns combining LGE and FDG-PET uptake, and correlate with outcomes (death, transplant, resuscitated SCD, unstable VT, HF hospitalization, myocarditis) (NCT05450783 chunk 1). - ClinicalTrials.gov URL: https://clinicaltrials.gov/study/NCT05450783 (NCT05450783 chunk 1).
2) DNA analysis from isolated cardiomyocytes for molecular diagnosis of ARVC/ACM - NCT: NCT03177018; completed. - Includes exploration of somatic mosaicism and feasibility of epigenetic analyses for PKP2/DSP/DSG2 from cardiomyocyte DNA (NCT03177018 chunk 1). - ClinicalTrials.gov URL: https://clinicaltrials.gov/study/NCT03177018 (NCT03177018 chunk 1).
3) Biomarkers in Scotland Cardiomyopathy Registry (Bio-SCOTCH) - NCT: NCT06446271; recruiting (first posted 2024-06-06). - Enrolls participants with TTN, MYBPC3, LMNA, FLNC, or DSP variants; aims to develop blood/urine/ECG/imaging biomarkers to detect preclinical disease and predict progression (NCT06446271 chunk 1). - ClinicalTrials.gov URL: https://clinicaltrials.gov/study/NCT06446271 (NCT06446271 chunk 1).
References
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(NCT03177018 chunk 1): DNA Analysis From Isolated Cardiomyocytes in the Molecular Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia. University Hospital, Toulouse. 2016. ClinicalTrials.gov Identifier: NCT03177018
(NCT06446271 chunk 1): Biomarkers in SCOTland CardiomyopatHy Registry (Bio-SCOTCH). NHS Greater Glasgow and Clyde. 2024. ClinicalTrials.gov Identifier: NCT06446271
(NCT05450783 chunk 1): Tissue and Metabolic Characterization of Arrhythmogenic Cardiomyopathies by Hybrid PET-MRI Imaging, Impact of the Observed Profiles on the Phenotype and on the Evolution of Cardiomyopathy. Nantes University Hospital. 2022. ClinicalTrials.gov Identifier: NCT05450783