Acute Myocarditis-Like Episode in a Curly-Haired Young Boy-Red Flags for Familial Arrhythmogenic Cardiomyopathy.
arrhythmogenic cardiomyopathy
cardiocutaneous syndrome
cardiovascular magnetic resonance
desmoplakin
myocarditis
sudden cardiac death
Journal
Diagnostics (Basel, Switzerland)
ISSN: 2075-4418
Titre abrégé: Diagnostics (Basel)
Pays: Switzerland
ID NLM: 101658402
Informations de publication
Date de publication:
31 Aug 2020
31 Aug 2020
Historique:
received:
30
07
2020
revised:
26
08
2020
accepted:
26
08
2020
entrez:
4
9
2020
pubmed:
4
9
2020
medline:
4
9
2020
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 32878047
pii: diagnostics10090651
doi: 10.3390/diagnostics10090651
pmc: PMC7555819
pii:
doi:
Types de publication
Case Reports
Langues
eng
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