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Clinical Spectrum in a Family with Tropomyosin-Mediated Hypertrophic Cardiomyopathy and Sudden Death in Childhood

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Abstract

This report demonstrates variable clinical courses in several members of a family with tropomyosin-mediated hypertrophic cardiomyopathy (HCM) (L185R mutation). The index case was an 8-year-old girl who died from sudden cardiac death and was diagnosed with HCM on autopsy. Her father had minimal hypertrophy but had an implantable cardioverter defibrillator placed prophylactically with no appropriate shocks. Two brothers progressed from normal phenotype to HCM on follow-up, the younger with significant hypertrophy and the older with mild hypertrophy. They both had malignant arrhythmia courses with VF, which was terminated by ICD shock. In conclusion, family members with same genotype can have significantly variable phenotypes.

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Authors and Affiliations

  1. Department of Pediatric Cardiology, University of Iowa Children’s Hospital, Iowa City, IA, USA

    Majd Makhoul, Dianne L. Atkins & Ian H. Law

  2. Windland Smith Rice Sudden Death Genomics Laboratory, Divisions of Cardiovascular Diseases and Pediatric Cardiology, Departments of Medicine, Pediatrics, and Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN, USA

    Michael J. Ackerman

  3. 527 Ladson CT, Decatur, GA, 30033, USA

    Majd Makhoul

Authors
  1. Majd Makhoul
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  2. Michael J. Ackerman
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  3. Dianne L. Atkins
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  4. Ian H. Law
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Correspondence to Majd Makhoul.

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Makhoul, M., Ackerman, M.J., Atkins, D.L. et al. Clinical Spectrum in a Family with Tropomyosin-Mediated Hypertrophic Cardiomyopathy and Sudden Death in Childhood. Pediatr Cardiol 32, 215–220 (2011). https://doi.org/10.1007/s00246-010-9843-1

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  • DOI: https://doi.org/10.1007/s00246-010-9843-1

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