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hypertrophic cardiomyopathy
Wednesday 16 July 2003
Hypertrophic cardiomyopathies are due to primary defects in sarcomerci function by mutations of genes coding for sarcomeric proteins composing the cardiac sarcomere.
Images
Hypertrophic cardiomyopathy: Asymmetrical septal hypertrophy and microscopic disarray -
Toluidine blue highlighting myocyte disarray in hypertrophic cardiomyopathy.
Synopsis
asymmetrical septal hypertrophy
microscopic disarray
Classification
early-onset hypertrophic cardiomyopathy, infantile hypertrophic cardiomyopathy
Etiology
mutations or variants of genes MYH7 , TNNT2 , MYBPC3 , TNNI3 , TPM1 , ACTC , MYL3 , MYL2 , LAMP2 , PRKAG2 , GLA , CAV3 , MTTG , MTTI , MTTK , TTR , TNNC1
COX15 deficiency
Gene testing
See also
cardiomyopathies
dilated cardiomyopathy
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