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August 27, 2013

UVA receives $14.4 million federal grant to battle deadly heart condition

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The UVA School of Medicine , leading a consortium of institutions, has been awarded $14.4 million in federal backing to find better ways to predict which patients with hypertrophic cardiomyopathy — the most common genetic heart disease — are at the greatest risk of heart failure or sudden death.

Patients with hypertrophic cardiomyopathy suffer from a thickening of the heart muscle, often with few or no symptoms. The condition is a significant cause of sudden, unexpected death — and the No. 1 killer of young athletes. Even when the disease is diagnosed, doctors have few ways to determine which patients are at the greatest risk. But UVA and its partners aim to change that, using the new grant from the National Institutes of Health’s National Heart, Lung and Blood Institute. In addition to the NHLBI funding, Siemens Healthcare has agreed to provide support to the project.

“The predictors of who is going to die and who is going to develop heart failure are fairly weak at present,” explained UVA’s Christopher M. Kramer, MD, co-principal investigator of the project. “The goal of the study is to develop better risk predictors, with the long-term goal of enabling more focused therapies.”

An International Effort

The five-year study will follow 2,750 patients for up to five years at 35 to 40 sites in the U.S., Canada and Europe, including the United Kingdom, Italy and Germany. Kramer’s co-principal investigator, Stefan Neubauer, MD, of Oxford University, will oversee the European sites, while Kramer will oversee the North American locations, with UVA serving as the lead site for the trial.

The study will have three major focuses:

Imaging, with MRI of the heart, to enable doctors to better map and measure the amount of heart thickening, scarring and fibrosis (stiffening). Genetics, to detect genetic patterns that could be associated with increased risk. Biomarkers, to determine if there are measurable biological indicators in the blood that predict risk.

“The problem with prior research is that most of the single-center studies, and even the multi-center studies, have been too small to really develop robust risk predictors, to really understand who is at risk for these adverse outcomes,” Kramer said. “Finally, with this grant, we should be able to put together a large enough patient population to get to the bottom of it.”

An NHLBI Priority

“Despite advances in cardiovascular medicine, sudden cardiac death and heart failure remain deadly complications of heart disease, especially hypertrophic cardiomyopathy,” said Michael Lauer, MD, director of the Division of Cardiovascular Sciences at the National Heart, Lung and Blood Institute. “Findings from this research could lead to new ways to prevent or treat these serious, sometimes life-threatening conditions.”

The NHLBI grant number is U01HL117006-01A1.

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