Comprehensive Risk Management in Arrhythmogenic Cardiomyopathy Associated With Autosomal Dominant Carvajal Syndrome: Protecting Families.
AC, arrhythmogenic cardiomyopathy
Carvajal syndrome
ECG, electrocardiogram
LV, left ventricular
RV, right ventricular
arrhythmic risk
cascade screening
desmoplakin
genetic testing
sudden cardiac death
Journal
JACC. Case reports
ISSN: 2666-0849
Titre abrégé: JACC Case Rep
Pays: Netherlands
ID NLM: 101757292
Informations de publication
Date de publication:
Jun 2020
Jun 2020
Historique:
received:
31
01
2020
revised:
23
03
2020
accepted:
27
03
2020
entrez:
28
7
2021
pubmed:
29
7
2021
medline:
29
7
2021
Statut:
epublish
Résumé
In a 37-year-old cardiac arrest survivor with autosomal dominant Carvajal syndrome and arrhythmogenic cardiomyopathy, a desmoplakin mutation was identified. Cascade screening identified 2 affected family members and 2 healthy children carrying the mutation. Strategies for primary and secondary risk prevention emphasize the role of genetic testing in rare cardiomyopathies. (
Identifiants
pubmed: 34317383
doi: 10.1016/j.jaccas.2020.03.033
pii: S2666-0849(20)30377-6
pmc: PMC8302052
doi:
Types de publication
Case Reports
Langues
eng
Pagination
925-929Informations de copyright
© 2020 The Authors.
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