1st major study of hypertrophic cardiomyopathy offers clues about the elusive disease

Results from the world’s largest comprehensive study of hypertrophic cardiomyopathy (HCM) patients are in—and they’re providing cardiologists with a wealth of previously unknown information about the disease.

Researchers including Christopher M. Kramer, MD, a cardiologist at UVA Health, reported early findings from their $14.4 million study in the Journal of the American College of Cardiology this month. There were significant gaps in our knowledge about HCM—an abnormal thickening of the heart that often goes undiagnosed and can result in sudden cardiac death—prior to the team’s work.

Unlike previous analyses of HCM, which have largely been retrospective and thus limited in scope, Kramer and his team leveraged data from the new Hypertrophic Cardiomyopathy registry, which has been logging detailed health stats of 2,750 HCM patients at 44 sites in six countries. According to a release from UVA, analysis of the registry has already generated a “gold mine” of new data.

One of Kramer and colleagues’ principal early findings was that patients with HCM can be divided into one of two main groups: those with a clearly defined genetic mutation and those without such a mutation. The former group was more likely to exhibit scarring of the heart muscle; the latter tended to have no scarring but greater obstruction of blood flow.

“It really changes the way we think about patients,” Kramer said in the release. “We can categorize them more easily. The more we can understand and group patients into categories, the better we will be able to learn what the best therapies are.”

There’s a lot more information to comb through, but Kramer said he believes a comprehensive analysis will yield important clues about how to best assess, diagnose and treat various patients with HCM.

“We look at this data and everything is making more sense,” he said. “It’s all fitting together.”