Acute Myocarditis-Like Episode in a Curly-Haired Young Boy-Red Flags for Familial Arrhythmogenic Cardiomyopathy.

ABSTRACT: The present case report describes a mother and son with arrhythmogenic cardiomyopathy (ACM) with early and greater left ventricle (LV) involvement. The presence of curly hair in both, together with the resuscitated sudden cardiac death of the mother, allowed timely genetic testing, which found a pathogenic nonsense mutation of the desmoplakin gene. While asymptomatic from an arrhythmic point of view, the son's evolution was characterized by a well-documented exercise-induced myocarditis-like stage.

SUBMITTER: Patru AE 

PROVIDER: S-EPMC7555819 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature