Hypertrophic Cardiomyopathy: The Most Common Genetic Heart Disease

Health Topics Sep 20, 2021

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Hypertrophic cardiomyopathy is a genetic condition that causes the walls of your heart’s left ventricle to contract harder and become thicker than normal. Once the walls are thicker and stiff, it reduces the amount of blood taken in and pumped out with every heartbeat. There are varying degrees of the disorder, and not everyone’s heart is affected in the same area, explains Aaron Kaibas, DO, a specialist in cardiovascular diseases.

The disease is inherited (it’s the most common form of genetic heart disease), and is most often diagnosed in middle age.

What Are the Symptoms?

You could have the disease and have no symptoms, or could think your symptoms are related to another condition. “The symptoms are the same as coronary artery disease, congestive heart failure, and other valvular disorders,” says Dr. Kaibas. The most common symptoms are:

Angina or cardiac pain
Shortness of breath with or without exerting your body
Passing out
Fatigue
Abnormal heartbeat (arrhythmia) in your lower heart chamber

It’s possible for a patient to suffer sudden cardiac arrest and later discover they had hypertrophic cardiomyopathy without knowing it. “The disease carries about a one percent risk per year of sudden cardiac death,” says Dr. Kaibas. It’s the most common reason for sudden cardiac death in young people and athletes under the age of 35.

Symptoms tend to worsen over time, which can significantly affect your quality of life. That’s why you should talk with your doctor if you have any of symptoms of heart disease.

How Is It Diagnosed And Treated?

“The most useful tool that we have to diagnose and determine the severity of the disease is a simple ultrasound of the heart called an ,” says Dr. Kaibas. Your medical history and your family’s medical history also are considered before diagnosis.

Medication is the first line of treatment, beginning with a beta blocker or calcium channel blocker. The goal would be to decrease the forcefulness of your heart contracting, Dr. Kaibas explains.

Surgery is usually needed if you have a more severe form of the disease called hypertrophic obstructive cardiomyopathy. In this instance, “the blood can’t exit the heart correctly. Surgery would reduce the amount of the thickening,” says Dr. Kaibas. There also are other catheter-based therapies that may be recommended as treatment options. “They carry a different set of risks and benefits.”

Who Is At Risk?

Because hypertrophic cardiomyopathy is a genetic disorder, you’re at risk if someone in your family has the disease. It’s estimated that one in every 500 people have it. If you’re diagnosed with the disease, “we would recommend that all your first degree relatives be screened for the condition every five years,” says Dr. Kaibas. Adolescents should be screened every year or two, or if they will be playing a competitive sport. “The condition, in a certain form, could prohibit participation in a competitive sport,” he adds.

Although stress doesn’t cause hypertrophic cardiomyopathy, if you have the disease, it could make your symptoms more severe.

How It Affects Quality Of Life

You can have hypertrophic cardiomyopathy and live a normal, active life. It depends on the severity of your disease and symptoms. You may need to make lifestyle changes (e.g. limit physical activity) if they aggravate your symptoms. And you may be told to avoid competitive, contact sports.

As the disease progresses it can lead to other health problems including atrial fibrillation, which can result in blood clots, stroke, and other heart-related complications.

“The life expectancy of someone with the disease is actually very good; with proper treatment, it’s normal,” says Dr. Kaibas.