| Autor: |
M. Scott Binder, MD, Emily Brown, MGC, CGC, Thomas Aversano, MD, Kathryn R. Wagner, MD, PhD, Hugh Calkins, MD, Andreas S. Barth, MD, PhD |
| Jazyk: |
angličtina |
| Rok vydání: |
2020 |
| Předmět: |
|
| Zdroj: |
JACC: Case Reports, Vol 2, Iss 3, Pp 372-377 (2020) |
| Druh dokumentu: |
article |
| ISSN: |
2666-0849 |
| DOI: |
10.1016/j.jaccas.2019.11.075 |
| Popis: |
A 24-year-old man with muscle cramps and a family history of sudden death presented with palpitations. Electrocardiography showed signs of left ventricular hypertrophy and nonsustained ventricular tachycardia, and imaging studies confirmed hypertrophic cardiomyopathy. Genetic testing revealed a novel FHL1 mutation associated with Emery-Dreifuss muscular dystrophy. An implantable cardioverter-defibrillator was placed. (Level of Difficulty: Advanced.) |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
|
