Newswise — A team of investigators from Texas Heart Institute, Texas Children’s Hospital and Baylor College of Medicine uncovered new insights into the mechanisms underlying the progression of congenital heart disease (CHD) ― a spectrum of heart defects that develop before birth and remain the leading cause of childhood death. 

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

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

To address these unanswered questions, Texas Heart Institute and Baylor College of Medicine’s James F. Martin, MD, PhD, collaborated with Iki Adachi, MD, Director of the Mechanical Circulatory Support Program at Texas Children’s and Associate Professor at Baylor College of Medicine, and 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. The team studied patients with hypoplastic left heart syndrome (HLHS), Tetralogy of Fallot (TOF) and dilated (DCM) and hypertrophic (HCM) cardiomyopathies undergoing heart surgery. 

Dr. Martin is an internationally recognized physician-scientist who has made numerous fundamental contributions to our understanding of cardiac developmental 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 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 Dr. Martin, 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. “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.”

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

“This is the first step in developing a comprehensive cell atlas of congenital heart disease,” said Dr. Turaga, physician in the Cardiac Intensive Care Unit at Texas Children’s, as well as an expert in genomics and microscopy. “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.”

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

“What we achieved with this study is absolutely exciting but represents just the beginning,” said Dr. Adachi, director of the world’s largest pediatric Heart Transplant and Ventricular Assist Device Program. “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.”

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 our understanding of CHD. 


The Texas Heart Institute, founded by world-renowned cardiovascular surgeon Dr. Denton A. Cooley in 1962, is a nonprofit organization dedicated to reducing the devastating toll of cardiovascular disease through innovative and progressive programs in research, education, and improved patient care. THI’s scientists and physicians conduct fundamental biomedical, translational, and clinical research in cardiology, cardiovascular surgery, molecular-based medicine, stem cell, and gene therapy, and regenerative medicine both independently and in collaboration with organizations worldwide. As a global leader of patient care for nearly six decades, Texas Heart Institute has been ranked among the top cardiovascular centers in the United States by U.S. News & World Report for the past 30 years. THI is dedicated to spreading awareness and sharing updates on ways to prevent, treat and defeat the cardiovascular disease. With over 10 million visitors coming to its website from around the world every year, is just one of the ways THI is helping to educate people on the importance of heart health. For more information, please visit @Texas_Heart


Baylor College of Medicine ( in Houston is recognized as a health sciences university and is known for excellence in education, research and patient care. It is ranked 22nd among medical schools for research and 17th for primary care by U.S. News & World Report. Baylor is listed 20th among all U.S. medical schools for National Institutes of Health funding and No. 1 in Texas. The Baylor pediatrics program ranked 7th among all pediatric programs, reflecting the strong affiliation with Texas Children’s Hospital where our faculty care for pediatric patients and our students and residents train. Nationally our physician assistant program was ranked 3rd in the health disciplines category and our nurse anesthesia program ranked 2nd. Located in the Texas Medical Center, Baylor has affiliations with seven teaching hospitals and jointly owns and operates Baylor St. Luke’s Medical Center, part of St. Luke’s Health. Currently, Baylor has more than 3,000 trainees in medical, graduate, nurse anesthesia, physician assistant, orthotics and genetic counseling as well as residents and postdoctoral fellows. Follow Baylor College of Medicine on Facebook ( and Twitter (


Texas Children’s Hospital, a not-for-profit health care organization, is committed to creating a healthier future for children and women throughout the global community by leading in patient care, education and research. Consistently ranked as the best children’s hospital in Texas, and among the top in the nation, Texas Children’s has garnered widespread recognition for its expertise and breakthroughs in pediatric and women’s health. The hospital includes the Jan and Dan Duncan Neurological Research Institute; the Feigin Tower for Pediatric Research; Texas Children’s Pavilion for Women, a comprehensive obstetrics/gynecology facility focusing on high-risk births; Texas Children’s West Campus, a community hospital in suburban West Houston; and Texas Children’s Hospital The Woodlands, the first hospital devoted to children’s care for communities north of Houston. The organization also created the Texas Children’s Health Plan, the nation’s first HMO for children; Texas Children’s Pediatrics, the largest pediatric primary care network in the country; Texas Children’s Urgent Care clinics that specialize in after-hours care tailored specifically for children; and a global health program that’s channeling care to children and women all over the world. Texas Children’s Hospital is affiliated with Baylor College of Medicine. For more information, go to Get the latest news by visiting the online newsroom and Twitter at

Journal Link: Nature