Novel FHL1 Mutation Associated With Hypertrophic Cardiomyopathy, Sudden Cardiac Death, and Myopathy
Year: 2020
Type: article
Study design: Case Report
Abstract: 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.)
Source: JACC Case Reports
Authors: M. Scott Binder, Emily Brown, Thomas Aversano, Kathryn R. Wagner, Hugh Calkins, Andreas S. Barth
Language: English
Subfield: Cardiology and Cardiovascular Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $850
OpenAlex ID: W3008400042