Comprehensive Risk Management in Arrhythmogenic Cardiomyopathy Associated With Autosomal Dominant Carvajal Syndrome
oleh: Maria Grazia De Gregorio, MD, Francesca Girolami, BS, Benedetta Tomberli, MD, Guendalina Rossi, MD, Alessia Tomberli, RN, Katia Baldini, RN, Iacopo Olivotto, MD
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2020-06-01 |
Deskripsi
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.)