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Children’s awarded $20M to fight pediatric heart disease

Jane Newburger, MD

ifty years ago, few options were available to treat infants with tetralogy of Fallot (TOF), the most common “blue baby” heart defect. Now, with the help of surgical advances, patients with this common congenital heart condition have a 98 percent survival rate. But as these children grow into adulthood, doctors are becoming more aware of the possible long-term complications.

Thanks to a new $20 million, five-year grant from the National Heart, Lung, and Blood Institute (NHLBI), researchers at Children’s will be able to investigate the causes of and new treatments for the medical complications that have emerged for many of the 100,000 people in the United States with TOF.

“Since TOF was first repaired surgically, the outcome of affected patients has steadily improved,” says Jane Newburger, MD, associate chief of Cardiology at Children’s. “Now, the vast majority of patients with TOF are alive 20 years after their surgery. But with improved survival, we’ve increasingly come to recognize long-term problems in some patients.”

With this grant, Newburger and her colleagues hope to understand the genetic basis and molecular pathways that cause TOF and find new ways to treat and prevent long-term complications.

The grant is part of a new NHLBI program called the Specialized Centers of Clinically Oriented Research (SCCOR) which was designed to speed up the process of translating research into clinical care.

“We are thrilled to be able to explore new ways to improve the outcomes of patients with TOF,” says Newburger. “It’s fantastic to have the necessary funding to do this research.”

TOF includes a combination of four different heart problems that leaves blood poorly oxygenated. The severity of the condition varies, but complete surgical repair is usually done in infancy. The long-term effects include enlargement and poor function of the right ventricle, leakiness of the pulmonary valve, and learning problems that may be congenital or result from the procedures necessary to treat the heart problems.

“I’ve already received e-mails from parents of children with TOF and adults who underwent repair of TOF who are interested in participating in the research,” Newburger says.

The research will include scientists from Children’s, Beth Israel Deaconess Medical Center, and Harvard Medical School. Led by Newburger, the Children’s and Harvard-based research team will explore four areas of TOF:

• Genetic causes
• Molecular pathways and cellular strategies for improving right ventricle function, including heart muscle regeneration.
• Surgical methods to optimize long-term health of the right ventricle
• Developmental, neurological and behavioral outcomes

“Our overall hope is to improve the prevention, treatment and outcome of TOF,” she adds. “As these children have a long life ahead, it’s incumbent on us to make their lives as normal as possible.” —BD