Diagnostics (Aug 2020)

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

  • Alina Elena Pătru,
  • Sebastian Onciul,
  • Adrian Sturzu,
  • Eliza Cinteză,
  • Eleonora Gima,
  • Bogdan A. Popescu,
  • Philippe Chevalier,
  • Ruxandra Jurcuț

DOI
https://doi.org/10.3390/diagnostics10090651
Journal volume & issue
Vol. 10, no. 9
p. 651

Abstract

Read online

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.

Keywords