Why the study?
Desmoplakin cardiomyopathy has recently emerged as an entity distinct from other genetic cardiomyopathies, prompting a summary of recent literature characterizing its natural history and management challenges.
Highlights the emergence of desmoplakin cardiomyopathy as a distinct entity with unique phenotypic features and high sudden cardiac death risk, emphasizing the role of genetic testing for gene-specific management.
Recognize desmoplakin cardiomyopathy by episodic hot phases, cutaneous signs, and high arrhythmic risk; leaves optimal management open for prospective trials.
PURPOSE OF REVIEW: Cardiomyopathy caused by pathogenic variants in the desmoplakin gene has recently emerged as an entity distinct from other genetic cardiomyopathies. This review summarizes recent literature, including the first large cohort studies of this disease, that have begun to characterize its natural history and specific management challenges. RECENT FINDINGS: Desmoplakin cardiomyopathy may be characterized by episodic "hot phases", cutaneous findings, and a high risk of sudden cardiac death. Gene-specific risk factors for sudden cardiac death have begun to be elucidated. SUMMARY: Genetic testing in arrhythmogenic cardiomyopathy and recurrent myocarditis can identify patients with desmoplakin variants who may have a unique phenotype that requires gene-specific management. More research is needed in this population to further guide treatment, counseling, and risk stratification.
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Hoffman‐Andrews et al. (2025) studied this question.
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