Cardiology patient page. Hypertrophic cardiomyopathy: a patient perspective.

Abstract

Affecting approximately one in every 500 people, hypertrophic cardiomyopathy is a unique disease in which there is an abnormal increase in the thickness of the heart muscle. Although the cause of hypertrophic cardiomyopathy was unknown in the past, it is now recognized that people with hypertrophic cardiomyopathy have a gene mutation that causes this abnormality. Most people with hypertrophic cardiomyopathy are relatively asymptomatic and able to maintain a normal lifestyle, but there are some who become severely limited by symptoms of shortness of breath and chest pain. There is also a small number of people with hypertrophic cardiomyopathy who may die suddenly. However, proper diagnosis and treatment of this disorder can relieve symptoms and prolong life. In people with hypertrophic cardiomyopathy, the muscular wall of the main pumping chamber of the heart (left ventricle) is abnormally thickened (Figure 1). This increased thickness is called hypertrophy, and it usually involves the muscular wall between the right and left ventricles (the ventricular septum), but it may occur in any part of the left ventricle. Figure 1. Schematic diagram of a patient with a normal heart (left) and a patient with hypertrophic cardiomyopathy (right). There is a marked increase in the thickness of the walls of the heart in the patient with hypertrophic cardiomyopathy. The heart muscle is usually able to pump well despite the hypertrophy, and thus most people do not have limiting symptoms. However, for some people, the thickened heart muscle is abnormally stiff. Therefore, when the left ventricle fills with blood, the stiffness of the muscle increases the pressure inside the left ventricle, and this high pressure is reflected back into the lungs, causing symptoms of shortness of breath. In some cases, the increase in the thickness of the ventricular septum occurs just below the aortic valve and may block …