Diagnosis of hypertrophic cardiomyopathy (HCM) requires a thorough cardiology and genetics evaluation. A complete medical history including a family medical history will be taken. Then a physical examination will be done. This includes listening to the heart and lungs with a stethoscope to check for any abnormal heart sounds or murmurs. The pulse in both your arms and neck will be checked and the doctor may feel for an abnormal heart beat in the chest.
Additional tests to diagnose cardiomyopathy typically include echocardiography and electrocardiogram (ECG). Further testing may also be needed, including genetic testing, cardiac MRI, exercise stress testing, monitoring for abnormal heart rhythms and cardiac catheterization. In addition to making a precise diagnosis, these tests are invaluable in determining severity and guiding disease management.
If a patient is diagnosed with hypertrophic cardiomyopathy (HCM), it is important that their immediate family members be screened for the condition as well, since HCM can run in families. They should be evaluated and then followed and re-checked every few years by a cardiologist.
HCM is caused by changes in genes that help build the muscle of the heart. Genetic testing can help determine if family members will develop HCM. Once genetic testing has identified the genetic mutation causing HCM in a family, other family members can be tested for that same genetic mutation to see if they also inherited it.
If genetic testing shows that they do carry the genetic mutation that causes HCM in the family then they are at increased risk for developing the symptoms and changes in the heart that are associated with HCM. This knowledge can help them make choices to preserve their health, such as avoiding strenuous exercise, which can make HCM worse, and seeking regular care with a cardiologist, who may prescribe specific medications or arrange for a pacemaker or defibrillator to be implanted.
If a relative of a person with a cardiomyopathy has genetic testing and is found not to carry the genetic mutation for HCM, then that relative need not be followed by a cardiologist. This can relieve a lot of stress and worry.
Reviewed by health care specialists at UCSF Medical Center.