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The Making of Medicine

The World’s Most Comprehensive Study of Hypertrophic Cardiomyopathy

Our Christopher M. Kramer is one of the leaders of the world’s most comprehensive study of hypertrophic cardiomyopathy, an abnormal thickening of the heart that can lead to sudden death at any age. If you don’t know anyone who has it, you may have read about it in the news — HCM, as it is sometimes known, is the most common cause of cardiac death in young athletes.

The $14.4 million study has developed a registry of more than 2,750 patients at 44 sites in six countries. The initial findings are just now coming out, and they’re giving us new insights into this deadly heart condition. One big finding: Patients with a clearly defined genetic mutation tended to have more scarring of the heart muscle, while patients without such a mutation tended to have no scar and more obstruction of blood flow.

This is helpful information for doctors. “It really changes the way we think about patients. We can categorize them more easily,” said Dr. Kramer, a cardiologist. “The more we can understand and group patients into categories, the better we will be able to learn what the best therapies are.”

Unlike previous studies that were more limited in scope, this one takes a holistic approach to understanding the complex condition. It integrates high-tech imaging, genetic analysis and biomarker data with clinical info so that the researchers can really get the big picture.

These initial results are just a first step. The researchers say they are collecting a treasure trove of information they and their colleagues will be able to mine for years. When all is said and done, they hope to develop an app that will help doctors predict patients’ risk and better manage the condition.

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