Research Shows Improved Treatment Options for Heart Defect Prevention Before Birth


The researchers noted that new therapies have faced challenges because of this knowledge gap in CHD.

New research has found the first single-cell genomics evidence of unique differences in heart muscle cells and immune systems of congenital heart disease (CHD) and other mechanisms underlying the progression of CHD, according to a study published in Nature.

The eventual outcome of heart failure in patients with CHD has been established; however, the underlying cause of declining heart function remains unknown. The researchers noted that new therapies have faced challenges because of this knowledge gap in CHD.

“This is the first step in developing a comprehensive cell atlas of congenital heart disease,” Diwakar Turaga, MD, PhD, a Texas Children’s Hospital pediatric cardiac critical care specialist and assistant professor at Baylor College of Medicine, to profile heart and blood samples from CHD patients. “We are creating a roadmap for therapies targeting individual cell types and unique gene pathways in CHD that include both the heart and the immune system, something that had not been reported before. As the technology matures, this will become the standard of care in treatment of CHD.”

Teams at the Texas Heart Institute, Texas Children’s Hospital, and Baylor College of Medicine profiled heart and blood samples from patients with CHD and studied those with hypoplastic left heart syndrome, Tetralogy of Fallot, and dilated and hypertrophic cardiomyopathies undergoing heart surgery.

“Using several exciting new technologies such as single-cell RNA sequencing, we were able to interrogate samples from congenital heart disease patients at the single cell level. One of our goals is to improve the natural history of this terrible disease afflicting children,” said James F. Martin, MD, PhD, director of the Cardiomyocyte Renewal Laboratory at the Texas Heart Institute, and Vivian L. Smith Professor in the Department of Integrative Physiology at Baylor College of Medicine, in a press release. “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.”

The study findings may provide a blueprint to develop personalized treatments for CHDs as well as more critical resources of rare pediatric heart samples that can be used to make additional discoveries to better understand CHD.

Iki Adachi, MD, director of the Mechanical Circulatory Support Program at Texas Children’s and associate professor at Baylor College of Medicine, added that this study is only the beginning.

“The collaboration between the extremely sophisticated laboratory at the Texas Heart Institute and the top pediatric heart center at Texas Children’s definitely has the potential to go further,” Adachi said in the press release.


New Understanding of Congenital Heart Disease Progression Opens Door to Improved Treatment Options Scientists develop a roadmap to future personalized medicine for heart defects that develop before birth. Texas Children’s Hospital. June 22, 2022. Accessed June 23, 2022.

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