Sunday, July 26
Auditorium – 1:00pm – Cardiac Issues & FAOD
About the Speaker
Biography and Research Focus
Kathryn C. Chatfield, MD, PhD
Associate Professor of Pediatrics, Cardiology, University of Colorado School of Medicine
Director, Cardiac Genetics Clinic
Medical degree: Dartmouth Medical School, Hanover, NH
Residency: Children’s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA
Fellowships: Medical Genetics, Children’s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA
Pediatric Cardiology, University of Colorado, Children’s Hospital Colorado, Aurora, CO
Dr. Chatfield’s clinical interests include genetic forms of pediatric cardiomyopathy and treatment of heart failure in children. She is an attending physician on the Heart Failure and Heart Transplant service at Children’s Hospital Colorado. Dr. Chatfield sees patients in her clinic with a variety of heritable cardiovascular conditions including Marfan syndrome and related connective tissue disorders, Noonan-spectrum disorders, familial congenital heart disease, metabolic and inherited forms of cardiomyopathy. Her research focus is the role of mitochondrial energy metabolism in pediatric cardiomyopathy and heart failure. She is also a principle investigator for two clinical studies evaluating substances in blood that may serve as markers for aortic disease in Marfan syndrome and related disorders of the aorta.
Personal Statement of Research Interests and Focus:
I trained in pediatrics, medical genetics and cardiology, and can count myself as one of the few dual-trained cardiac geneticists in the country. While there may be only a dozen or so individuals in the US who share my type of training and interest in the genetics of heart disease in children, the role of genetics in pediatric cardiology is more and more evident. The reason for this is that genetic conditions are a major cause of heart diseases in children. Genetic changes are responsible for congenital heart disease (the way the heart forms), for heart rhythm disorders (problems with the hearts internal electrical system), heart muscle disease (cardiomyopathy), as well as vascular diseases that affect children (connective tissue disorders which affect the major blood vessels). Some causes of congenital heart disease are known, especially those associated with a chromosome abnormality that causes a recognizable syndrome. While we are learning about the causes of isolated congenital heart disease, there is still much to learn about non-syndromic congenital heart disease.
One of my roles in cardiology is as a consultant to my colleagues when we are trying to understand if a child’s heart condition has a genetic cause we can identify, if is part of a larger picture for a child (what we call a syndrome). Genetic evaluation can also help determine if the heart problem is something that could affect other members of a family or future children. Knowledge of genetics is now fundamental to understanding why children get different types heart conditions, and knowing the best way to treat them. A genetic diagnosis can be very important for predicting the outcomes for a child and for helping a family anticipate what the future may hold for their child with congenital heart disease. Genetics is becoming increasingly important for finding new treatments for heart disease.
My primary research interest relates to problems faced by the patients I care for in the clinic. My research group has a focus on understanding what changes lead to heart failure in “cardiomyopathies” a disease of the heart muscle. We ultimately hope to understanding how we can treat heart muscle disease in children by understanding heart metabolism and differences between children and adults with cardiomyopathy. Children with cardiomyopathy usually have a heart that formed correctly, but due an infection or an underlying genetic problem, the heart muscle does not function correctly. Sometimes the heart has too much muscle and is too thick, which we call “hypertrophic” cardiomyopathy, alternatively the heart muscle can become big and dilated and does not squeeze effectively, and we call this “dilated cardiomyopathy.” In some children we can identify a genetic change or a metabolic problem that caused the cardiomyopathy, while others we can find no identifiable cause; we call this “idiopathic”. Treatment of cardiomyopathies has improved outcomes in adults, but using the same treatment strategies in children has not improved outcomes in children in the last 20+ years, with 30% of children with dilated cardiomyopathy still dying or requiring a heart transplant within 1 year of their diagnosis. With the generous participation of the families we care for at CHC, we have established a tissue bank at the University of Colorado that has collected the diseased hearts that were removed from children who needed heart transplants (for cardiomyopathy and congenital heart disease . Using this tissue we are leaning about how pediatric cardiomyopathy is different from adult disease, and try to identify targets for treatment. One of these potential targets is called the mitochondria, which is the energy factory of the cell. In my lab we are looking for a problem with this energy factory in hearts with cardiomyopathy. Ultimately we will understand what is unique about cardiomyopathy in children, and we believe we will find better ways to treat sick hearts, to prevent children from needing a heart transplant.