Hypertrophic cardiomyopathy (HCM) is an inherited condition that affects the heart muscle or the myocardial tissue of the heart. Genetic mutation results in the myocardium thickening or continuing to grow so that heart function is affected in myriad ways. Though the condition is rare, affecting only about 2 in 1000 people, it can be devastating when not recognized, and unfortunately, symptoms may not be present or noticed until significant heart damage has amassed.
Sometimes people will have early symptoms of hypertrophic cardiomyopathy. These might be felt when a person exerts or exercises and could include shortness of breath, chest pain, faintness, dizziness, or some combination of several symptoms. People might also note fatigue and they may feel the heart beating or fluttering in the chest. HCM can cause irregularities in heart rhythm, which may be the first indication of a problem. However, since symptoms may not be present, the most reliable way to predict the disease is to understand family history, since close relatives with HCM may indicate greatly increased risk.
The condition is not always caught right away, and it does tend to progress to the point where blood flow to the heart can be impaired significantly or obstructed. About 30% of people who have the disease don’t have obstructed blood flow, but hearts will still be inefficient when they pump. Complications that develop from the disease include obstruction, and heart failure. Clearly the most devastating possibility with hypertrophic cardiomyopathy is sudden death, usually due to arrhythmias that stop the heart. Sudden cardiac death is not common but it is a risk with HCM, especially when the condition hasn’t been recognized.
Diagnosis of hypertrophic cardiomyopathy occurs by looking at family history or by evaluating the heart when symptoms occur. Enlargement of the heart is easily visualized on an echocardiogram, which can also analyze any impairment of function. Other tests like electrocardiograms (EKGs), or using a holter monitor to evaluate presence of rhythm abnormalities are routinely performed too. Depending on degree of illness, some doctors may want to perform a cardiac catheterization to look at the structures of the heart more precisely.
There are a number of treatments for hypertrophic cardiomyopathy. These include medications that may help control arrhythmias and improve heart function. Sometimes surgery called a myectomy is required, which removes some of the excess tissue from the heart.
Other people may require a pacemaker or an implanted defibrillator to help stimulate the heart and control rhythm issues. Most people with this condition are asked not to participate in many forms of sports, and its recommended that people eat a heart healthy diet to minimize damage to the heart in other ways. With the various treatments available, lifespan is not always significantly affected, and early diagnosis can mean interventions sooner to protect the heart and the person.
