Hypertrophic Cardiomyopathy: For Heart Failure Clinics: Genetics of Cardiomyopathy and Heart Failure

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