Scientists develop roadmap for improved treatment of congenital heart disease

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New insights have been discovered concerning the underlying progression of congenital heart disease (CHD), one of the leading causes of childhood death.

The research, published in the journal Nature, and conducted by a team of investigators from the Texas Heart Institute, Texas Children’s Hospital, and Baylor College of Medicine in Houston, reported single-cell genomics evidence of unique differences in heart muscle cells and immune systems of CHD patients. Researchers said uncovering these differences and how these diseases progress will open up new ways for researchers to treat CHD.

The team studied patients with hypoplastic left heart syndrome (HLHS), tetralogy of fallot (TOF) and dilated (DCM) and hypertrophic (HCM) cardiomyopathies undergoing heart surgery. They explored new technologies such as single-cell RNA sequencing and analyze samples from congenital heart disease patients at the single cell level, according to James Martin, MD, PhD, from the Texas Heart Institute and Baylor College of Medicine.

“This is the first step in developing a comprehensive cell atlas of congenital heart disease,” said Diwakar Turaga, MD, PhD, physician in the Cardiac Intensive Care Unit at Texas Children’s in a statement. “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.”

According to the authors, the findings of the study not only provide a new roadmap to develop personalized treatments for CHDs, but also provide the scientific community with a critical resource of rare pediatric heart samples that can be used to make further discoveries and deepen understanding of CHD.