Hypertrophic cardiomyopathy: The past, the present, and the future

Abstract

Patients with left ventricular hypertrophic cardiomyopathy (HCM) were described in the middle of the nineteenth century. Clinico-pathologic correlations carried out in the first half of the twentieth century revealed that HCM is characterized by familial occurrence, hypertrophy of the interventricular septum, dynamic obstruction to left ventricular outflow, impaired left ventricular filling, and rarely, sudden death or heart failure. The clinical diagnosis can usually be confirmed by echocardiography. Treatment includes beta blockade and invasive therapy to reduce obstruction (septal myectomy or catheter induced alcohol septal ablation). In patients at high risk for sudden death, an implanted defibrillator is indicated. Hcm is a disease of sarcomeric proteins; more than 1,500 mutations on ten genes have been described. Future challenges include learning more about patients with characteristic mutations but normal phenotypes and the development of drugs that are specifically directed at the molecular abnormalities.