A fetus with hypertrophic cardiomyopathy, restrictive, and single-ventricle physiology, and a beta-myosin heavy chain mutation

J Pediatr. 2010 Jul;157(1):164-6. doi: 10.1016/j.jpeds.2010.02.044. Epub 2010 Apr 14.

Abstract

Cardiomyopathy is a significant clinical problem associated with sudden death. A molecular taxonomy is emerging that is refining the clinical classification system. We describe a patient with a pathogenic familial beta-myosin heavy chain mutation who was prenatally diagnosed with left ventricular hypoplasia and restrictive diastolic physiology.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Cardiomyopathy, Hypertrophic / diagnostic imaging
  • Cardiomyopathy, Hypertrophic / genetics*
  • Cardiomyopathy, Hypertrophic / pathology
  • Cardiomyopathy, Hypertrophic / physiopathology
  • Female
  • Fetus / pathology*
  • Genetic Predisposition to Disease
  • Gestational Age
  • Heart Ventricles / pathology
  • Humans
  • Mothers
  • Mutation*
  • Myosin Heavy Chains / genetics*
  • Pregnancy
  • Ultrasonography, Prenatal*
  • Ventricular Myosins / genetics*

Substances

  • Ventricular Myosins
  • Myosin Heavy Chains