Volume 13, No 1, Feb 2003
ISSN: 1001-0602
EISSN: 1748-7838 2018
impact factor 17.848*
(Clarivate Analytics, 2019)
Volume 13 Issue 1, February 2003: 9-20
REVIEWS
Hypertrophic cardiomyopathy: from gene defect to clinical disease
Man-Wei CHUNG1, Tatiana TSOUTSMAN1, Christopher SEMSARIAN*,1,2
1Molecular Cardiology Group, Centenary Institute and 2Department of Cardiology, Royal Prince Alfred Hospital, Sydney, NSW, Australia
Correspondence: Christopher SEMSARIAN(c.semsarian@centenary.usyd.edu.au.)
Major advances have been made over the last decade in our understanding of the molecular basis of several cardiac conditions. Hypertrophic cardiomyopathy (HCM) was the first cardiac disorder in which a genetic basis was identified and as such, has acted as a paradigm for the study of an inherited cardiac disorder. HCM can result in clinical symptoms ranging from no symptoms to severe heart failure and premature sudden death. HCM is the commonest cause of sudden death in those aged less than 35 years, including competitive athletes. At least ten genes have now been identified, defects in which cause HCM. All of these genes encode proteins which comprise the basic contractile unit of the heart, i.e. the sarcomere. While much is now known about which genes cause disease and the various clinical presentations, very little is known about how these gene defects cause disease, and what factors modify the expression of the mutant genes. Studies in both cell culture and animal models of HCM are now beginning to shed light on the signalling pathways involved in HCM, and the role of both environmental and genetic modifying factors. Understanding these mechanisms will ultimately improve our knowledge of the basic biology of heart muscle function, and will therefore provide new avenues for treating cardiovascular disease in man.
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