Gustavo Aliano Gâmbaro et al. Marcello Laneza Felicio Luís Gustavo Modelli de Andrade Leonardo Rufino Garcia Flavio de Souza Brito
Abstract
Desmoplakin (DSP) is a pivotal component of the desmosome, a cell junction complex anchoring intermediate filaments. In the heart molecular architecture, desmosomes play a relevant role in cellular adhesion and force transducer through the myocardium. Mutations in the DSP gene cause distinct arrhythmogenic cardiomyopathy with myocardial injury, left ventricular fibrosis, further systolic dysfunction, and a high incidence of ventricular arrhythmias.
We describe the clinical cases of three siblings with DSP cardiomyopathy diagnosed after the index patient had been referred to an inherited cardiac disease investigation due to recurrent myocarditis. A novel nonsense variant in the DSP gene was diagnosed, and the patients were treated to avoid sudden cardiac death.