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Hypertrophic Cardiomyopathy: when the heart is too big


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A patient lies on his hospital bed talking to his cardiologist about his heart rhythm disease.

Cardiomyopathy is a disease of the heart muscle that impairs contraction, ultimately reducing the heart’s ability to pump blood. 

Hypertrophic cardiomyopathy is one of several types of cardiomyopathy that exist. As the name implies, it is characterized by hypertrophy of the heart, meaning a significant thickening of its walls, particularly those of the left ventricle. 

The heart is an organ consisting of four chambers. It has two atria and two ventricles, on the left and on the right. The left ventricle contracts and pushes blood into the aorta. The oxygen-rich blood is then delivered to the organs, muscles and tissues in the body. Hypertrophy can lead to a blockage of blood flow leaving the heart, which can reduce oxygen supply to the brain. 

Hypertrophic cardiomyopathy is typically hereditary and is the most common heart disease, affecting one in 500 people. 

This condition is often linked to the disorganization of cardiac muscle fibers. 

This can contribute to complications like arrhythmias and, in some cases, may lead to sudden cardiac death.

Symptoms

Symptoms of hypertrophic cardiomyopathy can vary greatly from person to person. Some people may stay asymptomatic for long periods of time, even their entire life, while others are affected from childhood. 

Common symptoms include shortness of breath, especially during physical activity. Some people may also suffer from dizziness or even fainting during or shortly after physical activity due to a lack of oxygen reaching the brain. 

They can also include excessive fatigue that is not necessarily linked to physical activity. Some also experience chest pain at rest and during physical activity or palpitations, which is the sensation of a rapid or irregular heartbeat. Finally, edema may also develop, causing swelling in the ankles or legs.

Diagnosis

People with a family history of hypertrophic cardiomyopathy should speak with their doctor about undergoing heart tests, not only for their own health, but also to consider the implications if they wish to start a family. People with this condition have a 50% chance of passing it on to their children.

If the condition is not detected before the first symptoms appear, and after consulting a primary care physician who may make an initial diagnosis, further examinations will be run. 

Echocardiography is one of the most effective methods for detecting left ventricular hypertrophy. Magnetic Resonance Imaging (MRI) confirms the diagnosis and provides information on the ventricular condition. An electrocardiogram (ECG or EKG) can also assist in the diagnosis by detecting any arrhythmia or other cardiac abnormalities.

Smiling pink cartoon character with large eyes, wearing a white coat

What is an electrocardiogram?

It is a test that records the heart’s electrical activity over a given period of time. It identifies the speed at which the heart is beating (heart rate), whether it is beating normally (heart rhythm) and the effectiveness of the heart muscle. An electrocardiogram is also called an ECG or EKG.

Treatment

Medication like beta-blockers and antiarrhythmics may be prescribed first to treat hypertrophic cardiomyopathy. Beta-blockers slow the heart rate while antiarrhythmics help restore the heart to its normal rhythm by slowing down electrical impulses.

It sometimes becomes necessary to perform a myectomy. This surgical procedure involves removing a portion of thickened heart muscle that is obstructing blood flow into the aorta. Alcohol septal ablation is another procedure which destroys damaged tissue to restore normal blood flow from the heart.

Medical devices, such as an implantable cardioverter-defibrillator, can be inserted to prevent cardiac arrest. 

If neither medication nor medical devices are effective, a heart transplant may be considered. 

1%

The annual percentage of deaths among adults due to hypertrophic cardiomyopathy.

1 out of 500

Proportion of the general population affected by hypertrophic cardiomyopathy.

1 out of 400

Proportion of high-level athletes with this disease.

Hypertrophic cardiomyopathy or athlete’s heart?

As athletes undergo intensive training, their bodies adapt and their hearts change. For example, left ventricular cavity diameter and wall thickness are 10 to 20% higher among athletes than among the general public. Detecting hypertrophic cardiomyopathy can be complex due to uncertainty about whether a particular case is the disease or simply a result of the body’s adaptation. One in 400 athletes are believed to have this disease, compared to one in 500 among the general public.

Reviewed and approved by Benjamin Bouyer, MD, Cardiologist at Bordeaux University Hospital (CHU)