Hypertrophic cardiomyopathy

Abstract

Important insights into the molecular basis of hypertrophic cardiomyopathy and related diseases have been gained by studying families with inherited cardiac hypertrophy. Integrated clinical and genetic investigations have demonstrated that different genetic defects can give rise to the common phenotype of cardiac hypertrophy. Diverse pathways have been identified, implicating perturbations in force generation, force transmission, intracellular calcium homeostasis, myocardial energetics, and cardiac metabolism in causing disease. Although not fully elucidated, the fundamental mechanisms linking gene mutations to clinical disease are being characterized. Further advances will allow a better understanding of pathogenesis, diagnosis, and treatment, not just of relatively rare inherited cardiomyopathies, but potentially also of relevance to more common acquired forms of hypertrophic remodeling.