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Cited by 103Cardiovascular Effects of ExerciseCardiomyopathy and Myosin StudiesCardiac electrophysiology and arrhythmias

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Clinical characteristics and risk stratification of desmoplakin cardiomyopathy

Open access
Wang, Weijia, Murray, Brittney, Tichnell, Crystal, Gilotra, Nisha A, Zimmerman, Stefan L, Gasperetti, Alessio, Scheel, Paul, Tandri, Harikrishna, Calkins, Hugh, James, Cynthia A·2022·EP Europace
DOI 10.1093/europace/euab183PMC PMC8824516
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Abstract

Aims: Desmoplakin (DSP) cardiomyopathy is an increasingly recognized form of arrhythmogenic cardiomyopathy. With a genotype-specific approach, we characterized the diagnosis, natural history, and risk for ventricular arrhythmia and heart failure in DSP cardiomyopathy. Methods and results: We followed 91 individuals [45 probands, 34% male, median age 27.5 years (interquartile interval 20.0–43.9)] with pathogenic or likely pathogenic DSP variants for a median of 4.3 years. Regarding the ventricular involvement, left predominance was most common (n = 22, 28%) followed by bi-ventricular in 12 (15%) and right predominance in 5 (6%). Myocardial injury (chest pain, elevated troponin, normal coronary angiogram) occurred in 20 (22%) individuals. Incidence rates of sustained ventricular arrhythmia and heart failure (ventricular dysfunction ± symptoms) were 5.9 [95% confidence interval (CI): 3.9–9.1] and 6.7 (95% CI: 4.5–9.8) per 100 person-years, respectively. In univariate regression, myocardial injury was associated with sustained ventricular arrhythmia [hazard ratio (HR) 2.53, 95% CI: 1.05–6.11] and heart failure (HR 7.53, 95% CI: 3.10–18.26). After adjustment, left ventricular ejection fraction <35% and right ventricular dysfunction were prognostic for sustained ventricular arrhythmia while proband status and myocardial injury were prognostic for heart failure (all P < 0.05). The sensitivity of the arrhythmogenic right ventricular cardiomyopathy Task Force Criteria in diagnosing left dominant disease was 0.73; 5/22 (23%) of patients with sustained ventricular arrhythmias did not meet these criteria. Conclusion: DSP cardiomyopathy affects both ventricles and carries high risk for ventricular arrhythmia and heart failure. Myocardial injury is associated with worse disease outcomes. Both diagnosis and risk stratification of DSP cardiomyopathy need refinement.

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  • DGV-positive patients with myocarditis-like phenotypes are at increased risk of major ventricular arrhythmias and heart failure compared to DGV-negative patients.

    “DGV-positive patients with myocarditis-like phenotypes are at increased risk of major VAs and heart failure, as compared to DGV-negative patients [56,57,58].”

    From A Paradigm Shift: Arrhythmogenic Cardiomyopathy Is an Inflammatory Disease (2026) · cites this paper as [56]

    The Results (Clinical outcomes and risk stratification; page unavailable) associate myocarditis-like myocardial injury in DSP-variant carriers with heart failure and, in unadjusted analysis, sustained ventricular arrhythmia; the arrhythmia association was not statistically significant after adjustment. The Limitations section says the study included no other-genotype control group, so it does not establish the claimed comparison with DGV-negative patients. (LLM, conf=0.88)

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  • The "hot phase" of desmosomal ACM occurs more frequently in young individuals and women and is characterized by chest pain, peaks in serum cTnT, and mildly reduced or preserved cardiac function.

    “The so-called “hot phase” of desmosomal ACM occurs more frequently in young individuals and women and is characterized by chest pain, peaks in serum cTnT, and mildly reduced or preserved cardiac function [56,57,58].”

    From A Paradigm Shift: Arrhythmogenic Cardiomyopathy Is an Inflammatory Disease (2026) · cites this paper as [56]

    Methods (Clinical phenotypes; page unavailable) defines myocardial injury in DSP cardiomyopathy by chest pain and elevated cardiac troponin, and Results (Baseline characteristics; page unavailable) places these episodes at a median age of 27.5 years. The paper suggests female predominance for DSP cardiomyopathy overall, but does not establish that myocardial-injury episodes are more frequent in women or occur with preserved or mildly reduced function. It reports troponin I or an unspecified troponin type, not specifically cTnT. (LLM, conf=0.86)

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Citations

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Research works printed but not linked: 18

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Metadata

Authors
Wang, W., Murray, B., Tichnell, C., Gilotra, N. A., Zimmerman, S. L., Gasperetti, A., Scheel, P., Tandri, H., Calkins, H., & James, C. A.
Affiliations
Johns Hopkins University (US)
Corresponding author
Wang, Weijia
ORCID
Venue
EP Europace
Publisher
Oxford University Press (OUP)
Published
2021-08-05
Volume
24
Issue
2
Pages
268-277
ISSN
  • 1099-5129 (ISSN-L)
  • 1532-2092
DOI
10.1093/europace/euab183
PMC
PMC8824516
OpenAlex
W3191581306
Cited by
103
References
2
Citations by year
2026: 17 · 2025: 26 · 2024: 24 · 2023: 23 · 2022: 11 · 2021: 2
FWCI
10.06
Type
journal article
Language
en
Open access
Licence
Locations
  • EP Europace (publishedVersion, cc-by-nc)
  • PubMed Central (publishedVersion, cc-by-nc)
  • PubMed (publishedVersion)
Funders
  • Fondation Leducq’ (UL1 TR0030968)
  • Johns Hopkins Institute for Clinical and Translational Research
  • The Johns Hopkins ARVD
  • Leonie-Wild Foundation
  • Leyla Erkan Family Fund for ARVD Research
  • Healing Hearts Foundation
  • Peter French Memorial Foundation
  • Wilmerding Endowments
Topics
  • Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiovascular Effects of Exercise
  • Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiomyopathy and Myosin Studies
  • Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
Keywords
arrhythmogenic cardiomyopathy, ventricular arrhythmias, heart failure, risk stratification, myocardial injury, left ventricular ejection fraction, right ventricular dysfunction, natural history (disease), genotype-phenotype correlation
MeSH terms
Adult, Female, Humans, Male, Cardiomyopathies, Stroke Volume, Ventricular Function, Left, Risk Assessment, Arrhythmogenic Right Ventricular Dysplasia, Desmoplakins

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