Texas-led study sheds light on causes of congenital heart disease

Texas scientists are beginning to understand the underlying cause of congenital heart disease, according to a study published Wednesday that sheds new light on the illness.

Physician-scientists from the Texas Heart Institute, Texas Children’s Hospital and Baylor College of Medicine in Houston together documented the first reported evidence of unique differences in the heart muscle cells and immune systems of patients who suffer from congenital heart disease — one of the leading causes of death in children and adults.

The findings create a kind of genetic road map that could lead to targeted therapies for the tens of thousands of children born with the disease each year.

“As a physician taking care of a new patients, the parents always ask me two questions: Why does my child have congenital heart disease, and what are you going to do about it?” said Dr. Diwakar

Turaga, a Texas Children’s Hospital pediatric cardiac critical care specialist and assistant professor at Baylor College of Medicine. “What this study does is it gives you the answer to both questions.”

Turaga and the study’s other authors — Dr. James Martin of the Texas Heart Institute and Baylor College of Medicine, and Dr. Iki Adachi of Baylor and Texas Children’s — analyzed more than 150,000 individual cells in congenital heart disease patients with a range of cardiac defects and a placebo group.

Among the findings, the researchers found evidence of insulin resistance within the heart disease patients and discovered proteins with a different genetic profile compared with the control group. The researchers also learned more about why congenital heart disease leads to fibrosis, or the thickening and scarring of the tissue, and developed a better understanding of the unique spatial relationships between the blood vessels in heart disease patients.

“One of our goals is to improve the natural history of this terrible disease afflicting children,” said Martin, director of the Cardiomyocyte Renewal Laboratory at the Texas Heart Institute. “There is still a lot of work to do as the team, including co-first authors Drs. Matthew C. Hill, Zachary A. Kadow and Hali Long, heads toward that goal.”

Adachi said the study “is absolutely exciting but represents just the beginning.”