Research and Innovation

Over the past three decades, there have been tremendous advances in the surgical and clinical care of children and adults with inherited heart conditions. We are now at the beginning of bringing knowledge of genetics to this process. Heart researchers at our Betty Irene Moore Children’s Heart Center aim to combine genetics, genomics, and epidemiology with pediatric cardiology. Our aim is to discover the genetic and molecular causes of, and influences on, inherited cardiovascular conditions, such as congenital heart defects (CHD), cardiomyopathies, and arrhythmias, so that we can help change their long-term effects in children and adults.

Key research programs focused on advancing understanding and care for inherited cardiovascular disease

The following major initiatives at Stanford are making important discoveries in cardiovascular (heart or blood vessel) genetic research:

• Basic Science and Engineering (BASE) Research Initiative. A powerful research initiative that combines engineering, bioprinting, and molecular biology to move toward an eventual cure for congenital heart disease in children.
• Stanford Cardiovascular Institute (SCVI) Biobank. A biorepository (a place that collects, catalogs, and stores biological samples) of donated skin and blood cells that have been genetically altered into immature stem cells (iPSC), which give us clues into finding cures for known inherited heart disorders.
• Rapid Genome Sequencing. A new ultrarapid genome sequencing approach developed at Stanford Medicine to diagnose rare genetic diseases in an average of eight hours—a timeframe well below the current standard.

Key research studies in pediatric inherited cardiovascular disorders

The following research studies by doctors/researchers in our Moore Children’s Heart Center are helping us advance care for children with inherited heart and blood vessel diseases. Some are active clinical trials, so please ask your doctor if you are interested in exploring the chance for your child to participate.

• Congenital Heart Disease Genetic Network Study (CHD GENES).
• National Collaborative to Improve Care of Children With Complex Congenital Heart Disease.
• Tele-Clinic Visits in Pediatric Marfan Patients Using Parental Echo: The Future?
• Children and Adolescents With Marfan Syndrome: 10,000 Healthy Steps and Beyond.
• EXCOR Active Driving System for the EXCOR Pediatric VAD IDE Study.
• Advanced Cardiac Therapies Improving Outcomes Network to Improve the Health of Pediatric and Congenital Heart Disease Patients With Heart Failure (ACTION).
• Development of a Novel Risk Prediction Model for Sudden Cardiac Death in Childhood Hypertrophic Cardiomyopathy.
• Defining Clinical Outcomes in Pediatric Pulmonary Hypertension and Heart Failure.
• The Role of Electrophysiology Testing in Survivors of Unexplained Cardiac Arrest (EPS Arrest).
• Proactive Variant Effect Mapping Aids Diagnosis in Pediatric Cardiac Arrest.
• Retrospective Case Series of Patients With Congenital Heart Defects and Variants in TNNC1.
• Functional Modeling of Restrictive Cardiomyopathy With Patient Derived Stem Cells to Discover Novel Therapeutic Targets.
• Determining the Functional Consequence of Cardiomyopathy Variants in High Throughput.

Watch a video about exciting Stanford Medicine research on inherited cardiovascular disorders:

Want to learn more? Visit our Moore Children’s Heart Center’s Research and Innovation page, and learn how the center impacts the lives of children with various types of heart disease.