UVa Receives Grant to Study Common Genetic Heart Disease

By: Suzanne Wilson Email
By: Suzanne Wilson Email

August 27, 2013

The University of Virginia School of medicine has received a $14.4 million grant from the National Institute of Health. The money will be used to conduct a worldwide research project on hypertrophic cardiomyopathy.

Hypertrophic cardiomyopathy is the most common genetic heart disease that affects one out of every 500 people in the United States alone. It's a disease that many people may not realize they have and it can cause sudden death.

Dr. Christopher Kramer, UVa.Ruth C. Heede Professor of Cardiology and Professor of Radiology, is the North American co-principal to the research project.

Kramer said, "Hypertropic Cardiomyopathy is the medical term. It means abnormal thickness of the heart muscle."

It's that abnormal muscle thickness that can cause the sudden death with no warning for even the healthiest athlete.

Kramer said, "In young athletes, unfortunately, sometimes sudden death is the first presentation. It's genetic so it often runs in families. So, if a family member has history of this disease, other family members are generally screened."

Besides getting a screening, there are very few other ways to know who could have the disease. A heart ultrasound of MRI scan are needed to see the abnormal muscle thickness and scar tissue in the heart.

Kramer said, "Unfortunately, presently, the predictors that we use are not terrific at predicting who's going to suffer an untoward event."

The $14.4 million grant will be used worldwide to study 2,750 patients who have already been diagnosed with the heart disease. By the end of the research project, Dr. Kramer hopes to have a practical use of the data for every doctor around the world.

Kramer said, "The main goal is that a physician that is taking care of one of these patients can gather all of this data, put it all of that information into their phone or PDA and come up with a number that will predict the risk of that patient having heart failure or a sudden death due to fast heart rhythm."

The study will follow each of the patients for up to five years.


August 27, 2013

The University of Virginia School of Medicine 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 primary killer of young athletes.

Even when the disease is diagnosed, doctors have few ways to determine which patients are at the greatest risk.

“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.”

The study will follow 2,750 patients for up to five years at 35 to 40 sites in the U.S., Canada and Europe.

The three major factor researchers will be focusing on are:
- 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.”

The grant comes from the National Institutes of Health’s National Heart, Lung and Blood Institute. Siemens Healthcare will also be providing support to the project.

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