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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Linking Cardiology and Oncology

Dr. Summar: It's really about guided treatment in the future, isn't it? Patroula, you work with such syndromes as Noonan syndrome and others. What do you see as the role for genetic testing in those patients?

Dr. Smpokou: This is a fascinating field. A lot of research is going on in the translational field. All of the genes that cause Noonan-related disorders are those that affect the RAS pathway to increase growth, so in a way they are tumor-predisposing genes. A lot of research is going on in tumor-like targeted therapies in cancer, specifically as it relates to ras genes and tumors. I can foresee that there will be trials in humans in the next 2 decades or even sooner. Researchers are looking into such medications as rapamycin in mice who have mutations that cause cardiomyopathy and Noonan syndrome at the same time. They have seen that rapamycin resolves the cardiomyopathy in those mice. This work has not reached the clinical trial level in humans yet, but the field is quickly evolving to the point where individuals who are severely affected by these disorders are going to be the ones to target with those molecular therapies.

Dr. Chapman: Can you talk more about the cancer risks and the importance of identifying a disorder for screening purposes?

Dr. Smpokou: The disorders in the Noonan spectrum and in what we call the "RASopathies" of the RAS pathway are fascinating because they affect the development of the heart and heart function in cardiomyopathy, but these individuals are also at risk of having tumors. We see this a lot, but it isn't something that can easily be linked unless there is an underlying diagnosis such as Noonan syndrome. In that case, we know about the risk and can be looking out for tumors. These things make a real difference in morbidity and mortality of these patients. Treatment for cancer and cardiomyopathies is something that we can foresee.

Dr. Summar: I'm hearing that we are using genetics to link the fields of oncology, cardiology, physiology, and electrophysiology.


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