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 […]
