Hypertrophic cardiomyopathy (or HCM for short) is a disease that causes the wall of the heart muscle to thicken impacting the efficiency of the heart muscle and causing obstruction of blood flow. HCM is also an inherited disease and is associated with abnormal heart rhythms, which can sometimes be life threatening.
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People with HCM can have the following symptoms:
- Shortness of breath
- Chest pain or discomfort
- Palpitations or the sensation of feeling the heart beat
A minority of people with HCM will suffer from the most serious complications (i.e. sudden death, heart failure and / or stroke). It is important to note that HCM has a wide range of severity and some people may not experience any symptoms for quite a while. They could have normal heart evaluations well into their adulthood without showing any signs, while others may begin to show signs/ symptoms starting at a very young age. It is difficult to predict whether a patient will have a mild or severe form of the disease. Although the disease is extremely rare in the athletic population, it remains the #1 cause of sudden death in athletes during strenuous exercise.
Diagnosis of HCM requires thorough cardiology, a physical exam (thus listening to the heart and lungs for any abnormalities), a genetics evaluation, and a complete medical history (including family medical history). Additional tests typically include echocardiography and electrocardiogram (ECG). If tests are not conclusive, your doctor will require further tests that include a cardiac MRI, a stress test, monitoring for abnormal heart rhythms and cardiac catheterization.
Being a genetic cardiac disease, if a patient is diagnosed with HCM, then their immediate family members need to undergo genetic tests to see if they also carry it. Family members can be tested for that same genetic mutation and should be followed up every few years by a cardiologist. By finding which member has the gene mutation, it can arm the carrier with knowledge on how to preserve their health while avoiding strenuous exercise. They can seek regular care with a cardiologist, who may prescribe specific medications or arrange for a pacemaker or defibrillator to be implanted.