ABSTRACT
Evidence suggests that gene mutations alter sarcomeric function and secondarily lead to hypertrophy and fibrosis. Putative abnormalities include alteration of the protein structure, change in sensitivity to regulators such as calcium or adenosine triphosphate, impaired energy metabolism, and/or decrease in the force or velocity of myocyte contraction. Hypertrophy may thus be a compensatory mechanism for sarcomeric dysfunction.There may be other determinants or disease-modifying genetic polymorphisms that play a role in the extent and distribution of hypertrophy.
