The Expanding Field of Genetics in Pediatric Cardiology

Marshall L. Summar, MD; Kimberly A. Chapman, MD, PhD; Patroula Smpokou, MD


August 11, 2014

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Editor's Note: Marshall L. Summar, MD, is Chief of the Division of Genetics and Metabolism and the Margaret O'Malley Chair of Molecular Genetics at Children's National Health System in Washington, DC. He is an internationally recognized expert in translational studies with an emphasis on developing clinical applications based on molecular genetics research. In an interview for Medscape, he spoke with clinical geneticists Kimberly A. Chapman, MD, PhD, Assistant Professor of Pediatrics at the George Washington Medical School of Health, and Patroula Smpokou, MD, a genetics specialist at Children's National. Their discussion focused on the ways that genetics are helping to diagnose and treat patients with targeted therapies that had not been identified before.

Not Just Congenital Heart Defects

Marshall L. Summar, MD: I am here today with Dr. Kim Chapman and Dr. Patroula Smpokou, both of whom are board-certified clinical geneticists and experts in the field of cardiac genetics, particularly in pediatrics. We are finding genetics coming into every single field, whether it's cancer or gastrointestinal medicine, and genetics are starting to crop up in cardiology and pediatrics. What are the big areas of genetics in cardiology?

Kimberly A. Chapman, MD, PhD: When we think about genetics in cardiology, we usually think about congenital heart disease. Most heart conditions have a genetic component, as a rule, but we also have to think about arrhythmias -- for example, familial long QT syndrome, some of the arrhythmia syndromes that are not associated with structural heart disease, and such conditions as cardiomyopathies, in which individuals have large hearts. We have long identified familial cardiac hypertrophy as a risk factor, but there are many other causes for cardiomyopathy. The idiopathic cardiomyopathies that we attribute to viral illnesses, or to other things that we are unable to identify, are risks based on genetic factors.

Dr. Summer: With some of the idiopathic cardiomyopathies, are both environmental and genetic components working together?

Dr. Chapman: Almost certainly. Many individuals who have been diagnosed with viral cardiomyopathies probably have a genetic risk factor, which even may be a classic mutation that is brought out by the environment.


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