Comprehensive Risk Management in Arrhythmogenic Cardiomyopathy Associated With Autosomal Dominant Carvajal Syndrome: Protecting Families.
JACC Case Rep
; 2(6): 925-929, 2020 Jun.
Article
in En
| MEDLINE
| ID: mdl-34317383
ABSTRACT
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. (Level of Difficulty Advanced.).
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Type of study:
Etiology_studies
/
Prognostic_studies
/
Risk_factors_studies
Language:
En
Journal:
JACC Case Rep
Year:
2020
Document type:
Article
Affiliation country:
Italia