| Autor: |
Maria Grazia De Gregorio, MD, Francesca Girolami, BS, Benedetta Tomberli, MD, Guendalina Rossi, MD, Alessia Tomberli, RN, Katia Baldini, RN, Iacopo Olivotto, MD |
| Jazyk: |
angličtina |
| Rok vydání: |
2020 |
| Předmět: |
|
| Zdroj: |
JACC: Case Reports, Vol 2, Iss 6, Pp 925-929 (2020) |
| Druh dokumentu: |
article |
| ISSN: |
2666-0849 |
| DOI: |
10.1016/j.jaccas.2020.03.033 |
| Popis: |
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.) |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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