hypertrophic cardiomyopathy
Hypertrophic cardiomyopathies are due to primary defects in sarcomerci function by mutations of genes coding for sarcomeric proteins composing the cardiac sarcomere.
Classification
early-onset hypertrophic cardiomyopathy, infantile hypertrophic cardiomyopathy
Etiology
COX15 deficiency
References
Nishimura RA, Holmes DR Jr. Clinical practice. Hypertrophic obstructive cardiomyopathy. N Engl J Med. 2004 Mar 25;350(13):1320-7. PMID: 15044643
Ashrafian H, Redwood C, Blair E, Watkins H. Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletion. Trends Genet. 2003 May;19(5):263-8. PMID: 12711218
Arad M, Seidman JG, Seidman CE. Phenotypic diversity in hypertrophic cardiomyopathy. Hum Mol Genet. 2002 Oct 1;11(20):2499-506. PMID: 12351586