Hypertrophic cardiomyopathy (HCM) is a genetic condition that causes the heart muscle to thicken, often going undiagnosed due to its subtle symptoms. While the condition is typically manageable, experts emphasize the importance of early detection to prevent serious complications, including sudden cardiac death.
Dr. Noah Moss, an advanced heart failure and transplant cardiologist at Mount Sinai Fuster Hospital in New York City, explains that while the heart is “a very special muscle,” in cases of HCM, “there’s too much of a good thing,” leading to heart inefficiency. In those with HCM, the heart struggles to pump blood effectively, and obstruction within the heart cavity can worsen with exercise, causing breathlessness, murmurs, and irregular electrical signals.
HCM can affect people at any age, from childhood to adulthood, and is classified into two types: obstructive (oHCM) and non-obstructive (nHCM). The obstructive form, which impacts about two-thirds of those with the disease, occurs when the mitral valve interferes with blood flow between the heart and the aorta. This can result in shortness of breath, lightheadedness, and worsened symptoms with physical exertion or sudden movements. “Not all patients have a murmur, and not all patients with a murmur will have one during a physical exam,” explains Dr. Ronald Wharton, director of the Hypertrophic Cardiomyopathy Program at Northwell Health. As a result, the condition can be easily overlooked, particularly in busy healthcare settings.
Dr. Moss stresses the importance of timely diagnosis to prevent worsening symptoms like breathlessness or lightheadedness. In rare cases—around 1% of patients—HCM can lead to sudden cardiac death due to dangerous heart rhythms. For patients at high risk, doctors may recommend implanting a defibrillator, a device that monitors the heart and can shock it back to rhythm during an emergency. Despite these risks, Dr. Matthew Martinez of Atlantic Health System assures that most people with HCM lead healthy lives and can expect to live into their 80s with proper care.
Diagnosing HCM typically begins with an electrocardiogram (EKG), often during a routine check-up or while investigating symptoms like exercise intolerance or palpitations. For a definitive diagnosis, an echocardiogram—an ultrasound of the heart—is the most reliable method. It can detect structural changes in the heart and help doctors monitor the effectiveness of treatment.
Despite affecting around 1 in 250 to 500 people, HCM is often undiagnosed. Experts estimate that about 85% of cases are missed, as many individuals do not exhibit symptoms, or their symptoms are mistaken for aging or poor fitness. Regular screenings, especially for those with a family history, are crucial for early detection.
In conclusion, while HCM is a manageable condition, early diagnosis and ongoing care are key to ensuring a long, healthy life for those affected. Regular check-ups with a cardiologist are essential, particularly if symptoms or family history suggest a risk for the condition.
