Hypertrophic Cardiomyopathy: From Genes to Bedside

Abstract

Hypertrophic cardiomyopath (HCM) is the common hereditary cardiomyopathy found in clinical practice. The disease is defined by left ventricular hypertrophy in the absence of abnormal loading conditions. The individuals affected by HCM present with asymptomatic atatus, syncopr, congestive heart failure, arrthymia and sudden cardiac death. Common presentation often develops in teenagers and young adulthood with an autosomal dominant inheritance, with various age-dependent penetrance. Most of the genes resposible for these disorders are related to the cardiac sarcomere proteins. The diagnosis is established on cardiac imaging such as transthoracic echocardiography and/or cardiac magnatic resonance imaging. The treatment modalities include pharmacologic therapy, invasive septal reduction and implantation of pacemaker or cardiac defibrillators to prevent sudden cardiac death. Genetic counselling is highly recommended in the probands and family members sine the relatives at risk can have the benefit from longitudinal clinical surveillance to prevent further morbidity and mortality.