Genetic variation in angiotensin-converting enzyme 2 gene is associated with extent of left ventricular hypertrophy in hypertrophic cardiomyopathy |
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| Authors: | Lize van der Merwe Ruben Cloete Miriam Revera Marshall Heradien Althea Goosen Valerie A Corfield Paul A Brink Johanna C Moolman-Smook |
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| Institution: | (1) Biostatistics Unit, Medical Research Council of South Africa, Tygerberg, South Africa;(2) MRC Centre for Molecular and Cellular Biology, Department of Biomedical Sciences, University of Stellenbosch Health Sciences Faculty, PO Box 19063, Room 4036, Teaching Block, Francie van Zijl Drive, Tygerberg, 7505, South Africa;(3) Department of Cardiology, IRCCS San Matteo Hospital, Pavia, Italy;(4) Department of Medicine, University of Stellenbosch Health Sciences Faculty, Tygerberg, South Africa |
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| 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. |
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