Cargando…

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

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 pat...

Descripción completa

Detalles Bibliográficos
Autores principales: Pătru, Alina Elena, Onciul, Sebastian, Sturzu, Adrian, Cinteză, Eliza, Gima, Eleonora, Popescu, Bogdan A., Chevalier, Philippe, Jurcuț, Ruxandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7555819/
https://www.ncbi.nlm.nih.gov/pubmed/32878047
http://dx.doi.org/10.3390/diagnostics10090651
Descripción
Sumario: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.