By AMERICAN HEART ASSOCIATION NEWS

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Editor’s note: This is one in a series of Cardiovascular Genome-Phenome Study Discovery grants awarded by the American Heart Association to speed personalized treatments and prevention for heart disease.

Think of heart failure as a serious plumbing problem. It happens when the heart can’t pump enough blood to meet the body’s needs. And for a certain type called heart failure with preserved ejection fraction, or HFpEF, there is no treatment.

In HFpEF, the heart can’t normally fill with blood because the muscle is stiff or thickened. Although other medical conditions or even a person’s genes can cause HFpEF, it can be hard to distinguish between HFpEF-causing genes, genes that cause other conditions and genes that can cause both, said David Kao, M.D., of the University of Colorado School of Medicine.

Kao and his research team are now trying to figure out which genes are responsible for HFpEF, knowledge that could lead to new ways to treat or prevent the condition, which affects about half of the nearly 6 million U.S. adults with heart failure.

“Our hope is that by identifying patterns of disease in HFpEF patients and combining it with their gene sequence, we can figure out which genes lead to the development of HFpEF, which could lead to discovering ways to treat or prevent it,” said Kao, an assistant professor of medicine in the division of cardiology.

Kao is among 10 researchers each recently awarded $160,000 to study new ways to individualize the treatment and prevention of heart disease. The grants, awarded by the American Heart Association with funding from AstraZeneca, probe three areas: heart failure, “good” HDL cholesterol and predicting cardiovascular disease.

Such research is urgently needed, Kao said, because patients with HFpEF don’t live long once they develop the disease, and there are no known treatments to help them feel better or live longer.

“Half of all HFpEF patients are dead within five years of finding out they have it, and many are very limited in what they can do physically because they get out of breath,” Kao said. That’s why figuring out how to prevent and treat the disease is so important, particularly in older people who are more likely to develop it, he said.

Kao noted that many people are excited about the idea of precision medicine, where many different aspects of a patient are considered to predict what diseases they will develop. His study is using several advanced mathematical methods for describing patients in great detail and finding other patients most similar to them to figure out what is likely to happen.

“If we’re successful, we may understand better how patients develop HFpEF, which might help us develop ways of preventing and treating specific groups of patients,” he said.

This type of work — combining very different types of data from many patients to better understand a disease — is one way “big data” is being used to make progress in medical research.

“I believe that the combination of a patient’s physical traits and conditions with very detailed descriptions of their genetics is the foundation of personalized medicine and could reveal important new understanding of HFpEF,” Kao said.

Heart failure patients, including those with HFpEF, have a shorter survival time than patients with many types of cancer.

“But heart failure research often does not receive the same publicity as cancer research, and so there are relatively few clinical studies focusing on HFpEF,” Kao said. “Increased awareness of heart failure, how much it affects a person’s quality and length of life, and the importance of supporting heart failure research would help us make much faster progress.”

Read other stories in this series.