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An estimated 85% of people with hypertrophic cardiomyopathy (HCM), the most common inherited heart disease, are reported to be undiagnosed, according to the Heart Failure Society of America.
HCM, which has been dubbed the "silent killer," has been diagnosed among an estimated 100,000 people, but is reported to affect 1 in 500 people. The disease causes the heart muscle to become thick and stiff, hindering its ability to obstruct blood flow to the rest of the body, resulting in complications such as heart failure, a heartbeat that's too fast or slow, and/or sudden cardiac arrest.
A child of a parent with HCM has a reported 50% chance of developing it at some point in life and death may come suddenly as symptoms don't appear earlier, though the exact cause still hasn't been fully determined.
“Although genotyping is important, it’s not the full story for HCM,” said Dr. Theodore Abraham, an echocardiographer at UCSF Health. “For half of the people with severe HCM, we haven’t found the causative gene. And just because the gene is present doesn’t mean you have the disease.”
Early diagnosis is critical for treatment and prevention, however, the condition may be hidden during standard ultrasounds.
“Before, patients with HCM and other forms of heart disease would come in, get an echo and often be told, ‘You have nothing wrong — I’ve looked at your echo and it looks great,'” Abraham said. “They’d come back 10 years later and be in really bad shape.”
HCM symptoms don't always appear in younger people and are commonly developed later in life, though a diagnostic test could determine if you have the disease ahead of time. There are no specific medications for treatment, however, light to moderate physical activity and regular cardiologist visits are recommended for treatment.