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Among the different heart diseases, hypertrophic cardiomyopathy (HCM) is a complex, genetic disorder. It is also referred to as idiopathic hypertrophic subaortic stenosis (IHSS), hypertrophic obstructive cardiomyopathy (HOCM), or asymmetric septal hypertrophy (ASH). Cardiomyopathy is a heart muscle disorder. There are four major types which are dilated, restrictive, arrhythmogenic right ventricular, and hypertrophic cardiomyopathy. In hypertrophic cardiomyopathy, there is an abnormal thickening of the heart muscle (myocardium); that means, the muscle becomes hypertrophied, making it difficult for the heart to pump blood. HCM also causes left ventricular stiffness, as well as abnormal changes in the muscle cells and mitral valve. The electrical system of the heart is also damaged by this disease. This can increase the risk of abnormal heartbeats (arrhythmias) and sudden death, in rare cases. Furthermore, this medical condition causes symptoms like chest pain, shortness of breath, dizziness, etc.

Signs and Symptoms

People with mild muscle thickening may not experience any symptoms. In some cases, HCM progresses and affects the heart function. The severity of symptoms may vary from individual to individual. Some of the possible signs and symptoms are shortness of breath with exertion, chest pain (angina) that occurs with physical activity or exercise, fatigue, syncope or fainting, caused by irregular heart rhythms, dizziness, lightheadedness, and palpitations due to arrhythmias. It can also lead to high blood pressure (hypertension), heart attack and/or sudden cardiac death. Moreover, it is one of the leading causes of death in young athletes.

Causes

It is a rare disease that affects 1 in 500 people. Since it is an inherited disorder, it is primarily caused by genetic mutations. Abnormality in the gene stimulates proteins, called sarcomeric contractile proteins, leading to abnormal growth of the heart muscle fibers. A person with a defective gene or family history of HCM is at a higher risk of developing this disease. However, few people with defective HCM gene don't develop this disease. In some cases, this medical condition may result from aging or high blood pressure.

Diagnosis

The diagnosis of this medical condition is done on the basis of physical examinations and various investigations. The doctor first reviews the family and medical history of the affected person. In the physical examination, the doctor checks for abnormal heart sounds or murmur using a stethoscope. Different tests are performed to diagnose the abnormal thickening of the heart muscles, mitral valve regurgitation, or problems with blood flow. Some of the common tests used for the diagnosis are 24-hour Holter monitor, ECG, chest X-ray, cardiac catheterization, cardiac MRI scan, echocardiography with Doppler ultrasound, and transesophageal echocardiogram (TEE). Genetic tests are performed to detect abnormal gene(s).

Treatment

There is no cure for this medical condition. The treatment is aimed at relieving symptoms and preventing any further complications. Some affected people would require hospitalization, until the condition is stabilized. The various treatment options include medications, specialized pacemakers, and at times even surgery. Drugs like calcium channel blockers, beta blockers, or antiarrhythmic medications are prescribed, which relax the heart muscles and improve the functioning of the heart.

A pacemaker is inserted under the skin, which sends electrical signals to the heart in order to monitor and regulate the heartbeats. An implantable cardioverter-defibrillator (ICD) is implanted in the chest to monitor the heartbeats. It also helps restore a normal heart rhythm by delivering small electrical shocks.

Septal myectomy is an open-heart surgery, in which an abnormally grown, thickened heart muscle wall is removed. This improves blood flow and minimizes mitral regurgitation. Septal ablation is the latest treatment option, in which alcohol is injected through a catheter to destroy a small part of thickened muscle.

It is a life-threatening heart disease; if diagnosed at an early stage, one can immediately seek the appropriate medical treatment in order to prevent its dangerous complications. Also, try to avoid strenuous exercises and overexertion to maintain heart health.

Disclaimer: This Buzzle article is for informative purposes only, and should not be used as a replacement for expert medical advice.