Novel Mutation Associated With Hypertrophic Cardiomyopathy, Sudden Cardiac Death, and Myopathy.

JACC Case Rep

Division of Cardiology, Department of Medicine, The Johns Hopkins Hospital, Johns Hopkins University, Baltimore, Maryland.

Published: March 2020

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 mutation associated with Emery-Dreifuss muscular dystrophy. An implantable cardioverter-defibrillator was placed. ().

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8311586PMC
http://dx.doi.org/10.1016/j.jaccas.2019.11.075DOI Listing

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