Researchers release primary data in global study into heart condition

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CHARLOTTESVILLE, Va. (CBS19 NEWS) -- Initial results from a study into a genetic heart condition that can cause sudden death have been released.

Researchers say this is the world's largest comprehensive study of hypertrophic cardiomyopathy, or HCM which an abnormal thickening of the heart that frequently goes undiagnosed.

According to a release, this condition can present at any age, and it is the most common cause of sudden cardiac death in young athletes.

The preliminary findings of the $14.4 million study suggest patients can largely be grouped into two lists: patients who have a clearly defined genetic mutation that tends to have more scarring of the heart muscle or patients without such a mutation who tend to have no scar tissue and more obstruction of blood flow.

The release says such information would improve a doctor's understanding of the condition and with additional research, help them better predict a patient's risk of sudden cardiac death and heart failure as well as determine best treatment strategies.

"It really changes the way we think about patients. We can categorize them more easily," said Christopher M. Kramer, MD, a cardiologist at the University of Virginia Health System and one of the lead investigators in the study. "The more we can understand and group patients into categories, the better we will be able to learn what the best therapies are."

This study used a registry of more than 2,750 patients with HCM at 44 locations in six countries.

The release says researchers used a first-of-its-kind approach that integrated high-tech imaging, genetic analysis and biomarker data with traditional clinical information to facilitate this analysis of HCM.

Other studies of HCM have been retrospective, which means they examined pre-existing data, but such an approach is limited to the information that happens to be available

The release explains the registry created for this new study collected a wide variety of date from study participants so researchers can see a bigger picture regarding hypertrophic cardiomyopathy.

The research team says the data that has already been generated will take years to analyze, but the result should be benefits for patients.

The researchers say they believe this registry will ultimately allow them to identify key clues to help determine which patients could be at the greatest risk of developing HCM and which treatments will best benefit different groups of patients.

"We look at this data and everything is making more sense," said Kramer. "It's all fitting together."

These results have been published in the Journal of the American College of Cardiology.

The UVA Health System has also been designated an HCM Center of Excellence by the Hypertrophic Cardiomyopathy Association.
Kramer also disclosed that he has acted as a consultant for the company Cytokinetics and has received grants from BioTelemetry Inc., a company that provides remote cardiac monitoring services, and MyoKardia, another company that develops treatments for HCM.

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