Understanding Hypertrophic Cardiomyopathy: A Common Genetic Heart Condition

Heart disease can often run in families, prompting individuals to educate themselves on various conditions. One such condition is hypertrophic cardiomyopathy (HCM), characterized by the thickening of the heart muscle. HCM is the most prevalent type of genetic cardiomyopathy, where individuals inherit a gene causing abnormal thickening of the heart muscle.

Despite being a potentially silent disease, HCM can manifest in symptoms such as increased heart rhythm issues, posing a risk of sudden death for some patients. In fact, sudden cardiac death can be the initial sign in 20% of cases, emphasizing the importance of timely diagnosis.

Individuals with HCM may experience symptoms like shortness of breath, chest pain, fainting, or dizziness due to heart muscle stiffness and blockage of blood outflow. Seeking medical attention upon experiencing these symptoms is crucial. For instance, young athletes who faint during exercise should undergo tests like an electrocardiogram (ECG) and an echocardiogram.

Contrary to common belief, HCM is not as rare as perceived, with data indicating that 1 in 200 to 500 individuals globally may have this condition. However, the underdiagnosis or misdiagnosis of HCM remains a significant challenge, with only a fraction of cases being identified in the U.S.

Recognizing family history and potential genetic factors is key in identifying HCM risks. Symptoms may appear at different life stages, from teenage years to later adulthood. At Mayo Clinic, genetic testing is offered to suspected HCM patients and their family members, providing a convenient and reliable method for diagnosis.