New understanding of congenital heart disease progression opens door to improved treatment options

A team of researchers from Baylor College of Medicine, the Texas Heart Institute and Texas Children’s Hospital has uncovered new insights into the mechanisms underlying the progression of congenital heart defects (CHD) — a spectrum of heart defects occurring before birth. developing and the main cause of childhood remain dead.

The research published in Nature represents the first reported single-cell genomics evidence of unique differences in cardiomyocytes and immune systems of CHD patients. Uncovering these important differences and how these diseases progress offers researchers an opening to devise new ways to treat CHD.

While the ultimate outcome of heart failure in CHD is well documented, the underlying cause of declining cardiac function in these patients is still poorly understood. That knowledge gap in understanding has led to roadblocks in developing new therapies that can extend a patient’s life.

To answer these unanswered questions, Dr. James F. Martin, vice president and professor of molecular physiology and biophysics at Baylor, along with Dr. Iki Adachi, professor of surgery at Baylor and director of the Mechanical Circulatory Support Program at Texas Children’s, and Dr. Diwakar Turaga, assistant professor of pediatrics at Baylor and pediatric cardiac critical care specialist at Texas Children’s, to profile heart and blood samples from CHD patients. The team studied patients with hypoplastic left heart syndrome (HLHS), tetralogy of fallot (TOF), and dilated (DCM), and hypertrophic (HCM) cardiomyopathies undergoing heart surgery.

Martin is an internationally recognized physician-scientist who has made numerous fundamental contributions to our understanding of cardiac development and disease pathways, as well as tissue regeneration.

“Using several exciting new technologies, such as single-cell RNA sequencing, we were able to interrogate samples from patients with congenital heart disease at a single-cell level. One of our goals is to improve the natural history of this terrible disease that children,” said Martin, director of the Cardiomyocyte Renewal Laboratory at the Texas Heart Institute and Vivian L. Smith Professor in Baylor’s Division of Integrative Physiology. “There is still much work to be done as the team, including co-first authors Drs Matthew C. Hill, Zachary A. Kadow and Hali Long are moving towards that goal.”

Turaga is a physician-scientist dedicated to bringing cardiac regenerative medicine to the bedside.

“This is the first step in developing a comprehensive cell atlas of congenital heart disease,” said Turaga, a physician in Texas Children’s Cardiac Intensive Care Unit who is also an expert in genomics and microscopy. “We are creating a roadmap for therapies that target individual cell types and unique gene pathways in CHD that involve both the heart and the immune system, something that has not been reported before. As the technology matures, it will become the standard of care in treating cancer.” CHD.”

Adachi is a congenital cardiac surgeon at Texas Children’s Hospital who specializes in reconstructive surgical procedures of CHD lesions, including those analyzed in this study.

“What we’ve accomplished with this study is absolutely exciting, but represents just the beginning,” said Adachi, director of the world’s largest pediatric heart transplant and ventricular aids program. “The collaboration between the Texas Heart Institute’s state-of-the-art lab and Texas Children’s best pediatric heart center certainly has the potential to go further.”

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

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