[Hypertrophic cardiomyopathy: infrequent mutation of the cardiac beta-myosin heavy-chain gene]

Rev Esp Cardiol. 2006 Aug;59(8):846-9.
[Article in Spanish]

Abstract

The aim of this study was to identify mutations in the cardiac heavy-chain beta-myosin gene (MYH7b) in a group of Spanish patients with hypertrophic cardiomyopathy. The study included 36 families with at least one member who had hypertrophic cardiomyopathy. DNA from exons 3 to 24 of the MYH7b gene was sequenced. Two mutations were identified: Arg858Cys and Met515Val. They occurred in two families, one of which was of Moroccan origin. This corresponds to a MYH7b gene mutation frequency of less than 5%. In contrast to findings in other Caucasian populations, MYH7b gene mutation occurred infrequently in this group of Spanish families with hypertrophic cardiomyopathy.

Publication types

  • English Abstract

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Cardiac Myosins / genetics*
  • Cardiomyopathy, Hypertrophic / genetics*
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Myosin Heavy Chains / genetics*
  • Pedigree

Substances

  • MYH7 protein, human
  • Cardiac Myosins
  • Myosin Heavy Chains