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

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...

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Detalles Bibliográficos
Autores principales: De Gregorio, Maria Grazia, Girolami, Francesca, Tomberli, Benedetta, Rossi, Guendalina, Tomberli, Alessia, Baldini, Katia, Olivotto, Iacopo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8302052/
https://www.ncbi.nlm.nih.gov/pubmed/34317383
http://dx.doi.org/10.1016/j.jaccas.2020.03.033
Descripción
Sumario: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.)