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Arrhythmogenic Cardiomyopathy—Further Insight into the Clinical Spectrum of Desmoplakin Disease
Article

Cardiovascular Characteristics of Patients with Genetic Variation in Desmoplakin (DSP)

Division of Cardiovascular Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA
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Author to whom correspondence should be addressed.
Academic Editors: Tiina Heliö, Juha W. Koskenvuo and Katriina Aalto-Setälä
Cardiogenetics 2022, 12(1), 24-36; https://doi.org/10.3390/cardiogenetics12010003
Received: 7 August 2021 / Revised: 12 December 2021 / Accepted: 30 December 2021 / Published: 6 January 2022
(This article belongs to the Special Issue Genetic Diagnostics in Inherited Cardiomyopathies)
Background: Variants in the desmoplakin (DSP) gene have been recognized in association with the pathogenesis of arrhythmogenic right ventricular cardiomyopathy (ARVC) for nearly 20 years. More recently, genetic variation in DSP has also been associated with left-dominant arrhythmogenic cardiomyopathy. Data regarding the cardiac phenotypes associated with genetic variation in DSP have been largely accumulated from phenotype-first studies of ARVC. Methods: We aimed to evaluate the clinical manifestations of cardiac disease associated with variants in DSP through a genotype-first approach employed in the University of Pennsylvania Center for Inherited Cardiovascular Disease registry. We performed a retrospective study of 19 individuals with “pathogenic” or “likely pathogenic” variants in DSP identified by clinical genetic testing. Demographics and clinical characteristics were collected. Results: Among individuals with disease-causing variants in DSP, nearly 40% had left ventricular enlargement at initial assessment. Malignant arrhythmias were prevalent in this cohort (42%) with a high proportion of individuals undergoing primary and secondary prevention implantable cardioverter defibrillator implantation (68%) and ablation of ventricular arrhythmias (16%). Probands also experienced end-stage heart failure requiring heart transplantation (11%). Conclusions: Our data suggest DSP cardiomyopathy may manifest with a high burden of heart failure and arrhythmic events, highlighting its importance in the pathogenesis of dilated and arrhythmogenic cardiomyopathies. Targeted strategies for diagnosis and risk stratification for DSP cardiomyopathy should be investigated. View Full-Text
Keywords: desmoplakin; arrhythmogenic cardiomyopathy; dilated cardiomyopathy; genetics; heart failure; phenotype; genotype; arrhythmia desmoplakin; arrhythmogenic cardiomyopathy; dilated cardiomyopathy; genetics; heart failure; phenotype; genotype; arrhythmia
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MDPI and ACS Style

Reza, N.; de Feria, A.; Chowns, J.L.; Hoffman-Andrews, L.; Vann, L.; Kim, J.; Marzolf, A.; Owens, A.T. Cardiovascular Characteristics of Patients with Genetic Variation in Desmoplakin (DSP). Cardiogenetics 2022, 12, 24-36. https://doi.org/10.3390/cardiogenetics12010003

AMA Style

Reza N, de Feria A, Chowns JL, Hoffman-Andrews L, Vann L, Kim J, Marzolf A, Owens AT. Cardiovascular Characteristics of Patients with Genetic Variation in Desmoplakin (DSP). Cardiogenetics. 2022; 12(1):24-36. https://doi.org/10.3390/cardiogenetics12010003

Chicago/Turabian Style

Reza, Nosheen, Alejandro de Feria, Jessica L. Chowns, Lily Hoffman-Andrews, Laura Vann, Jessica Kim, Amy Marzolf, and Anjali T. Owens. 2022. "Cardiovascular Characteristics of Patients with Genetic Variation in Desmoplakin (DSP)" Cardiogenetics 12, no. 1: 24-36. https://doi.org/10.3390/cardiogenetics12010003

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