Article
Familial Recurrent Myocarditis Triggered by Exercise in Patients With a Truncating Variant of the Desmoplakin Gene.
Journal of the American Heart Association - 18 May 2020
Poller Wolfgang, Haas Jan, Klingel Karin, Kühnisch Jirko, Gast Martina, Kaya Ziya, Escher Felicitas, Kayvanpour Elham, Degener Franziska, Opgen-Rhein Bernd, Berger Felix, Mochmann Hans-Christian, Skurk Carsten, Heidecker Bettina, Schultheiss Heinz-Peter, Monserrat Lorenzo, Meder Benjamin, Landmesser Ulf, Klaassen Sabine
Abstract excerpt
Background Variants of the desmosomal protein desmoplakin are associated with arrhythmogenic cardiomyopathy, an important cause of ventricular arrhythmias in children and young adults. Disease penetrance of desmoplakin variants is incomplete and variant carriers may display noncardiac, dermatologic phenotypes. We describe a novel cardiac phenotype associated with a truncating desmoplakin variant, likely causing...
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