Genetic variation in angiotensin-converting enzyme 2 gene is associated with extent of left ventricular hypertrophy in hypertrophic cardiomyopathy

Lize van der Merwe, Ruben Cloete, Miriam Revera, Marshall Heradien, Althea Goosen, Valerie A. Corfield, Paul A. Brink, Johanna C. Moolman-Smook

Research output: Contribution to journalArticlepeer-review

Abstract

Hypertrophic cardiomyopathy, a common, inherited cardiac muscle disease, is primarily caused by mutations in sarcomeric protein-encoding genes and is characterized by overgrowth of ventricular muscle that is highly variable in extent and location. This variability has been partially attributed to locus and allelic heterogeneity of the disease-causing gene, but other factors, including unknown genetic factors, also modulate the extent of hypertrophy that develops in response to the defective sarcomeric functioning. Components of the renin-angiotensin-aldosterone system are plausible candidate hypertrophy modifiers because of their role in controlling blood pressure and biological effects on cardiomyocyte hypertrophy.

Original languageEnglish
Pages (from-to)57-61
Number of pages5
JournalHuman Genetics
Volume124
Issue number1
DOIs
Publication statusPublished - Aug 2008

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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