Boston Med: Waiting for Her Heart

July 15, 2010— -- When she was four, Sara Dumas' parents took her to the emergency room. The girl had been vomiting frequently and her parents could not figure out why.

Doctors discovered a heart murmur. When they performed an ultrasound, called an echocardiogram, to look at the function and structures of the heart, they realized it was worse than a mere murmur: Sara had hypertrophic cardio-myopathy (HCM), a congenital heart disease.

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With HCM, the heart muscle becomes thick, making it difficult for blood to pump out of the heart and forcing the organ to work harder to pump at all. The disease can cause shortness of breath and severe chest pain.

In the worst cases, about 5 percent of the time, HCM sufferers need heart transplants.

Sara, at 16, learned that she was among the 5 percent, a group she would jokingly call the "lucky ones."

HCM is a genetic condition. When one family member is diagnosed with the disease, typically immediate family members are also tested.

Doctors discovered that Sara's father passed down the disease. He tested positive. So did Sara's brother, Ian, who is two years her junior.

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At first, the Dumases did not understand the seriousness of what they were dealing with.

Most children with HCM can live normally, but are not allowed to exercise strenuously, according to Dr. Elizabeth Blume, Sara's cardiologist. Team sports are usually off-limits, because of the risk of sudden death.