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
Affiliations
Alina Elena Pătru
Expert Center for Genetic Cardiovascular Diseases, Emergency Institute for Cardiovascular Diseases, Sos. Fundeni nr. 258, 022328 Bucharest, Romania
Sebastian Onciul
Department 4-Cardiothoracic Pathology, University of Medicine and Pharmacy Carol Davila, Eroii Sanitari Bvd. 8, 050474 Bucharest, Romania
Adrian Sturzu
Expert Center for Genetic Cardiovascular Diseases, Emergency Institute for Cardiovascular Diseases, Sos. Fundeni nr. 258, 022328 Bucharest, Romania
Eliza Cinteză
Department 4-Cardiothoracic Pathology, University of Medicine and Pharmacy Carol Davila, Eroii Sanitari Bvd. 8, 050474 Bucharest, Romania
Eleonora Gima
Department of Cardiology, University County Clinical Hospital, Bd. Tomis 145, 900591 Constanta, Romania
Bogdan A. Popescu
Expert Center for Genetic Cardiovascular Diseases, Emergency Institute for Cardiovascular Diseases, Sos. Fundeni nr. 258, 022328 Bucharest, Romania
Philippe Chevalier
Department of Rhythmology, Hospices Civils de Lyon, Louis Pradel Cardiovascular Hospital, 26 Avenue du Doyen Jean Lépine, 69500 Lyon, France
Ruxandra Jurcuț
Expert Center for Genetic Cardiovascular Diseases, Emergency Institute for Cardiovascular Diseases, Sos. Fundeni nr. 258, 022328 Bucharest, Romania
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.
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