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

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...

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Bibliographic Details
Main Authors: Alina Elena Pătru, Sebastian Onciul, Adrian Sturzu, Eliza Cinteză, Eleonora Gima, Bogdan A. Popescu, Philippe Chevalier, Ruxandra Jurcuț
Format: Article
Language:English
Published: MDPI AG 2020-08-01
Series:Diagnostics
Subjects:
arrhythmogenic cardiomyopathy
sudden cardiac death
myocarditis
cardiovascular magnetic resonance
cardiocutaneous syndrome
desmoplakin
Online Access:https://www.mdpi.com/2075-4418/10/9/651
Description
Summary: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.
ISSN:2075-4418

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