A homozygous MYBPC3 gene mutation associated with a severe phenotype and a high risk of sudden death in a family with hypertrophic cardiomyopathy

Rev Esp Cardiol. 2009 May;62(5):572-5. doi: 10.1016/s1885-5857(09)71841-9.
[Article in English, Spanish]


Genetic studies can play a key role in the comprehensive evaluation of familiar hypertrophic cardiomyopathy and in the development of individualized medicine. Although only a few cases have been described, there exists a group of patients with complex genotypes that are associated with severe disease manifestations and a high risk of sudden death. We describe a family in which some members experienced the early development of systolic and diastolic dysfunction while others experienced sudden death at a young age. We identified a novel homozygous mutation (IVS6+5G>A) in the myosin-binding protein-C gene that explained the phenotype of affected individuals and that enabled us to estimate the risk in other family members and to offer genetic counseling.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Cardiomyopathy, Hypertrophic / diagnostic imaging
  • Cardiomyopathy, Hypertrophic / genetics*
  • Carrier Proteins / genetics*
  • Death, Sudden, Cardiac / epidemiology*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Mutation / physiology*
  • Pedigree
  • Phenotype
  • Polymorphism, Single-Stranded Conformational
  • Risk
  • Ultrasonography


  • Carrier Proteins
  • myosin-binding protein C