Novel FHL1 Mutation Associated With Hypertrophic Cardiomyopathy, Sudden Cardiac Death, and Myopathy
oleh: M. Scott Binder, MD, Emily Brown, MGC, CGC, Thomas Aversano, MD, Kathryn R. Wagner, MD, PhD, Hugh Calkins, MD, Andreas S. Barth, MD, PhD
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2020-03-01 |
Deskripsi
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.)