Hypertrophic cardiomyopathy (HCM) is a serious genetic heart condition that thickens the heart muscle, making it harder to pump blood efficiently. Because it’s inherited, a diagnosis in one family member raises urgent questions for others. While HCM can be dangerous if left unchecked, early screening and awareness can significantly reduce risks.
Why Family History Matters
HCM is caused by mutations in genes that control heart muscle development. These mutations are passed down through families, meaning there’s a 50% chance that a child of someone with HCM will also inherit the condition. However, the severity of HCM varies widely, even within the same family. Some individuals may experience no symptoms, while others require intensive treatment, including surgery or even heart transplantation.
The problem is that HCM often goes undetected. Roughly 85% of people with the condition are unaware they have it, often because symptoms are mild or mistaken for normal aging or lack of fitness. This delay in diagnosis can be deadly, as undiagnosed HCM can lead to dangerous heart rhythms or sudden cardiac death.
How Screening Works
If you’ve been diagnosed with HCM, it’s crucial that your first-degree relatives (parents, siblings, and children) get screened. These screenings typically include:
- Echocardiogram: An ultrasound of the heart to assess its structure and function.
- Electrocardiogram (ECG): Measures electrical activity in the heart, identifying abnormal rhythms or thickening.
- Physical Exam & Family History Review: A cardiologist will evaluate symptoms and discuss the family’s HCM history.
Additional tests, like Holter monitors (for prolonged rhythm tracking) or cardiac MRI/CT scans, may be ordered for a more detailed assessment. Even if initial screenings are clear, repeat evaluations are recommended every 1–3 years for children and every 3–5 years for adults, as HCM can develop later in life. Insurance generally covers these screenings for those with a family history of HCM, but confirm coverage details with your provider.
Genetic Testing: Identifying the Root Cause
Genetic testing can pinpoint the specific gene mutation causing HCM in your family. This information helps identify at-risk relatives with greater accuracy. However, not all HCM-causing genes are known, so testing isn’t foolproof. It remains a personal decision, balancing the benefits of precise risk assessment against the limitations of current genetic knowledge.
The Bottom Line
HCM is a serious but manageable condition. First-degree relatives of someone with HCM have a significant risk of inheriting the mutation, but early screening can save lives. Because many cases are asymptomatic, regular checkups are vital, even for those who feel healthy. If you have HCM in your family, don’t wait – talk to your doctor about getting screened.
