Clinical spectrum in a family with tropomyosin-mediated hypertrophic cardiomyopathy and sudden death in childhood

Majd Makhoul, Michael J. Ackerman, Dianne L. Atkins, Ian H. Law

Research output: Contribution to journalArticle

3 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)215-220
Number of pages6
JournalPediatric Cardiology
Volume32
Issue number2
DOIs
StatePublished - Feb 1 2011

Keywords

  • Hypertrophic cardiomyopathy
  • Implantable cardioverter defibrillator
  • Sudden cardiac death

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Cardiology and Cardiovascular Medicine

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