It’s a heart defect affecting about one in every 1,800 babies. It can be life-threatening, requiring cardiothoracic surgery that is invasive and technically challenging. Yet the cause is little understood.
Now, researchers at Indiana University School of Medicine are hoping to gain new insights into the defect, called coarctation of the aorta, or narrowing of the aorta that obstructs blood flow to vital organs.
The medical school announced this month it has received a Department of Defense Discovery Award of $200,000 to study the defect.
Researchers plan to use single-cell RNA sequencing of aortic tissues that are removed during cardiothoracic surgery of infants with severe coarctation of the aorta to learn more about the cells that make up the defect.
They hope their findings could lead to new medical treatment options instead of surgery.
“Single-cell RNA sequencing is a technology that can measure gene expression levels in each individual cell,” said Dr. Benjamin Landis, assistant professor of pediatrics. “This process is well-suited for studying coarctation, which often has a complex geometrical structure and contains multiple different types of cells in the tissue.”
The defect occurs when a baby’s aorta does not form correctly as the baby grows and develops during pregnancy, according to the U.S. Centers for Disease Control and Prevention.
Children with coarctation of the aorta may risk developing endocarditis, a life-threatening inflammation of the inner lining of the heart’s chambers and valves, according to the American Heart Association.
The narrowing blocks normal blood flow to the body, and can cause the blood to back up into the left ventricle of the heart, making the muscles in this ventricle work harder to get blood out of the heart.
The causes of heart defect, including coarctation of the aorta, among most babies are unknown, according to the CDC. Some babies have heart defects because of changes in their genes or chromosomes. It might also be caused by things the mother comes in contact with in the environment, what the mother eats or drinks, or medicines the mother uses.
Landis said defining the pathobiology early in the disease process can help them identify medical targets responsive to early interventions which could prevent later development of cardiovascular diseases or redevelopment of coarctation of the aorta.
“This could be the first step toward a more complete understanding of the disease processes” that are active in newborns, Landis said.