This work was supported in part by grants from the Machiah Foundation, NIH, and HHMI.
Genetic Basis of Hypertrophic Cardiomyopathy: From Bench to the Clinics
Article first published online: 4 OCT 2007
Journal of Cardiovascular Electrophysiology
Volume 19, Issue 1, pages 104–110, January 2008
How to Cite
ALCALAI, R., SEIDMAN, J. G. and SEIDMAN, C. E. (2008), Genetic Basis of Hypertrophic Cardiomyopathy: From Bench to the Clinics. Journal of Cardiovascular Electrophysiology, 19: 104–110. doi: 10.1111/j.1540-8167.2007.00965.x
Dr. Seidman received honoraria for CV grand rounds on the genetics in HCM.
Drs. C.E. and J.G. Seidman co-own a patent for gene-based diagnosis of HCM.
Manuscript received 4 June 2007; Accepted for publication 7 June 2007.
Section Editor: Silvia G. Priori, M.D., Ph.D.
- Issue published online: 25 OCT 2007
- Article first published online: 4 OCT 2007
- hypertrophic cardiomyopathy;
Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac disorder that characterized by marked thickening of the left ventricular wall that occurs in the absence of increased external load. HCM is the most common cause of sudden cardiac death under 35 years and in addition causes heart failure. HCM is usually inherited as an autosomal dominant mutation in genes that encode protein constituents of the sarcomere. To date, more than 450 different mutations have been identified within 13 myofilament-related genes. This review focuses current research involved in the discovery of other causative genes, investigation of the mechanisms by which sarcomere genes mutations produce hypertrophy and arrhythmia, and identification of modifying factors that influence clinical expression in HCM patients. The clinical implications of molecular advances in HCM are discussed.