Understanding Hypertrophic Cardiomyopathy: A Common but Often Undiagnosed Heart Condition
Written by: Dr David Hinchman, MD
Hypertrophic cardiomyopathy (HCM) is the most common genetic heart condition, affecting about 1 in 200 people. You may have seen stories of athletes suddenly collapsing on the field—HCM is often the underlying cause. However, the risk of cardiac arrest in people with HCM is actually quite low, at just 0.7%. In high-risk cases, doctors may implant a defibrillator to help prevent sudden cardiac arrest.
For most people, HCM doesn’t cause major problems early in life. Instead, symptoms like chest pain and shortness of breath often appear later. Despite affecting nearly 1 million Americans, about 80% of cases go undiagnosed. Fortunately, doctors can detect HCM with an electrocardiogram (ECG) and an echocardiogram. A cardiac MRI and genetic testing can also help confirm the diagnosis.
A New Understanding of the Disease
Recent research has given us a better idea of what causes HCM. Scientists have discovered that microscopic structures in the heart muscle become “too sticky,” forcing the heart to work harder. This extra strain makes the heart muscle thicken, sometimes so much that it blocks blood flow, leading to symptoms like chest pain and trouble breathing.
A Breakthrough Treatment
Until recently, treatment options were limited, and some patients even needed open-heart surgery to remove the thickened muscle. But a revolutionary new medication, mavacamten, is changing the game. This once-daily pill reduces the stickiness in the heart muscle, improving symptoms within days to weeks and even reversing the thickening over time.
Dr. Hinchman was the first doctor in Idaho to prescribe mavacamten when it was approved in April 2022. He now monitors about 50 patients on this treatment and is involved in ongoing research.
The Future of HCM Treatment
Exciting new research is looking at gene therapy, which could offer a permanent cure by replacing the faulty protein that causes HCM. High Desert Heart and Vascular is at the forefront of these studies, working with academic institutions to develop these groundbreaking treatments.
AI technology is also improving diagnosis. Advanced computer programs can now analyze ECGs and detect HCM earlier than human doctors can. With these advancements in detection and treatment, the future for people with HCM is brighter than ever.
If you or someone you know has a family history of heart disease, talk to a cardiologist about screening for HCM. Early diagnosis can make all the difference.
