Comprehensive Risk Management in Arrhythmogenic Cardiomyopathy Associated With Autosomal Dominant Carvajal Syndrome

AbstractIn 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 seconda...

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Bibliographic Details
Published in:JACC. Case reports 2020-06, Vol.2 (6), p.925-929
Main Authors: De Gregorio, Maria Grazia, MD, Girolami, Francesca, BS, Tomberli, Benedetta, MD, Rossi, Guendalina, MD, Tomberli, Alessia, RN, Baldini, Katia, RN, Olivotto, Iacopo, MD
Format: Article
Language:English
Subjects:
arrhythmic risk
Cardiovascular
Carvajal syndrome
cascade screening
desmoplakin
genetic testing
sudden cardiac death
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Summary:AbstractIn 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. ( Level of Difficulty: Advanced.)
ISSN:2666-0849
2666-0849
DOI:10.1016/j.jaccas.2020.03.033