Novel FHL1 Mutation Associated With Hypertrophic Cardiomyopathy, Sudden Cardiac Death, and Myopathy

M. Scott Binder, MD; Emily Brown, MGC, CGC; Thomas Aversano, MD; Kathryn R. Wagner, MD, PhD; Hugh Calkins, MD; Andreas S. Barth, MD, PhD

JACC: Case Reports (Mar 2020)

Novel FHL1 Mutation Associated With Hypertrophic Cardiomyopathy, Sudden Cardiac Death, and Myopathy

M. Scott Binder, MD,
Emily Brown, MGC, CGC,
Thomas Aversano, MD,
Kathryn R. Wagner, MD, PhD,
Hugh Calkins, MD,
Andreas S. Barth, MD, PhD

Affiliations

M. Scott Binder, MD: Department of Medicine, Johns Hopkins Bayview Medical Center, Johns Hopkins University, Baltimore, Maryland; Address for correspondence: Dr. M. Scott Binder, Johns Hopkins Bayview Medical Center, 5200 Eastern Avenue, Mason F. Lord Building Center Tower, 3rd floor, Room 342, Baltimore, Maryland 21224.
Emily Brown, MGC, CGC: Division of Cardiology, Department of Medicine, The Johns Hopkins Hospital, Johns Hopkins University, Baltimore, Maryland
Thomas Aversano, MD: Division of Cardiology, Department of Medicine, The Johns Hopkins Hospital, Johns Hopkins University, Baltimore, Maryland
Kathryn R. Wagner, MD, PhD: Center of Genetic Muscle Disease, Kennedy Krieger Institute, Baltimore, Maryland; Departments of Neurology and Neuroscience, The Johns Hopkins School of Medicine, Baltimore, Maryland
Hugh Calkins, MD: Division of Cardiology, Department of Medicine, The Johns Hopkins Hospital, Johns Hopkins University, Baltimore, Maryland
Andreas S. Barth, MD, PhD: Division of Cardiology, Department of Medicine, The Johns Hopkins Hospital, Johns Hopkins University, Baltimore, Maryland

Journal volume & issue: Vol. 2, no. 3
pp. 372 – 377

Abstract

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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.)

Published in JACC: Case Reports

ISSN: 2666-0849 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Medicine: Internal medicine: Specialties of internal medicine: Diseases of the circulatory (Cardiovascular) system
Website: https://www.journals.elsevier.com/jacc-case-reports

About the journal

Abstract

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