Hypertrophic cardiomyopathy: the Most Common Genetic Heart Disease

Hypertrophic cardiomyopathy (HCM) is a heart disease that causes abnormally thick heart muscles. In most cases, the disease is genetic and it affects around 1 in 5 babies born in France. Women’s Cardiovascular Healthcare Foundation is raising awareness of this heart disease that many people still don’t know about. We’ve asked our expert Dr. Eléonore Hebbar, cardiologist at University Hospital of Lille, to talk about the essential things you need to know to prevent this disease. Act before it’s too late! Be proactive!

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The symptoms of HCM vary widely. Some people may have palpitations, shortness of breath, dizziness or loss of consciousness. But in the majority of cases, this disease causes few to no functional issues. This means the condition is usually discovered during a routine medical exam using an electrocardiogram (ECG) or a family screening (if a parent is a known HCM carrier).
HCM tends to appear at a younger age in women. It’s important for women to know how to recognize symptoms early and tell their doctor about them so they can be referred to a cardiologist, especially for young women who want to have a baby.
After confirming the diagnosis, an echocardiogram and a cardiac MRI are recommended. Blood work may be suggested on a case-by-case basis to look for genetic mutations that will confirm the diagnosis.
Various treatment options are available depending on each person’s symptoms. Medication is one of the options. In some situations, an implantable automatic defibrillator may be necessary to avoid sudden death because this heart disease can cause serious ventricular arrhythmias.
A young woman with HCM may be able to have a safe pregnancy if her cardiac situation is stable. She will need to talk with her gynecologist and her cardiologist before trying to get pregnant. A special couple’s consultation with a physician specialized in genetics should be considered to estimate the risk of transmitting the disease to the baby. In every case, the young mother and future baby will have close medical monitoring all throughout the pregnancy, at the time of delivery and after the baby is born.
Women’s Cardiovascular Healthcare Foundation helps improve the coordination among various health professionals working with women who have HCM so they can better adapt to each person’s life plans.
Head to our testimonials page to read a story about HCM from Clémence who wanted to alert women about targeted screening.




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