What is hypertrophic cardiomyopathy?

  Hypertrophic cardiomyopathy (HCM) is a group of heart diseases that result in pathological thickening of the myocardium due to genetic abnormalities and can occur in all age groups with a population incidence of 0.2%. The clinical features are unprovoked ventricular wall thickening, which can be greater than 15 mm in adults, and a family history of the disease; eight disease-related genes have been identified, with more than 1400 mutation sites, all of which are related to myocardial segments; a single mutation in one of these genes is sufficient to cause hypertrophic cardiomyopathy; 17 other genes that may be related to the disease have yet to be identified. There are 17 additional genes that may be associated with the disease to be clarified.  Clinically, patients may have symptoms such as chest tightness, shortness of breath, dyspnea, precordial discomfort, dizziness, and limited activity, as well as events such as sudden cardiac death, heart failure, and atrial fibrillation. It is important to do an examination to determine left ventricular outflow tract obstruction. About 1/3 of patients can detect left ventricular outflow tract obstruction at rest (pressure difference >30 mmHg), another 1/3 will develop left ventricular outflow tract obstruction after activity, and another 1/3 will not show left ventricular outflow tract obstruction. Treatment is based on the patient’s symptoms and includes treatment of the associated disease, medication and invasive therapy.