What are the features of hypertrophic cardiomyopathy?

• It is the leading cause of sudden death in the young and is an important cause of heart failure • Echocardiographic screening of families revealed an autosomal dominant pattern of inheritance. • Initial genetic studies using linkage analysis in large families identified disease-causing mutations in sarcomeric genes • Hypertrophic cardiomyopathy is characterized by age-dependent and incomplete penetrance • The interventricular septum is the typical location of maximal hypertrophy • Left ventricular out flow tract obstruction represents the most common focus of diagnosis and intervention • Obstruction is present in 30% of patients at rest and can be provoked by exercise in another 30%. • Systolic obstruction is initiated by drag forces, which push an ante-riorly displaced and enlarged anterior mitral leaflet into contact with the hypertrophied ventricular septum • In order to maintain stroke volume across outflow tract obstruction, the ventricle generates higher pressures, leading to higher wall stress and myocardial oxygen demand