TRANSLATIONAL RESEARCH
Genetics and Clinical Characterization of TAA in patients with LOF Filimin-A Mutation
Our lab is interested in understanding, evaluating and creating awareness about cardiovascular outcomes in both pediatric and adult patients with PVNH and FLNA loss-of-function mutations. We are creating the largest systematic database to catalog the cardiovascular abnormalities in patients with PVNH and FLNA loss-of-function mutations. With the help of more than 300 PVNH patients who have contributed to our studies over the last 2 decades we have evaluated the frequency and gender distribution of thoracic aortic aneurysm as a cardiovascular manifestation of loss-of-function (LOF) X-linked FilaminA (FLNA) mutations. Our results suggest that a comprehensive baseline cardiac evaluation should be undertaken at the time of PVNH diagnosis to identify any existing structural cardiac malformation, as well as to document baseline dimensions of the thoracic aorta. Although FLNA mutations have been known to be associated with an X-linked epileptic brain malformation, cardiovascular manifestations of FLNA mutations, including asymptomatic thoracic aortic aneurysm, have been increasingly recognized as common and often life-threatening. Bringing awareness to these patient population is one of our objective so that they have the latest information from the benchside.
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Related Publications
Thoracic aortic aneurysm in patients with loss of function Filamin A mutations: Clinical characterization, genetics, and recommendations.
Ming Hui Chen, Sangita Choudhury, Mami Hirata, Siri Khalsa, Bernard Chang, Christopher A. Walsh
Am J Med Genet A. 2018 Feb;176(2):337-350. doi: 10.1002/ajmg.a.38580. View abstract
Collaborators
Ming Hui Chen, MD, MMSc
Director, Cardiovascular Health for Cancer Survivors Program; Director, C-BrDG-Cardiac-Brain Development and Genetics Program; Director, Stress Echocardiography Program; Associate Professor of Medicine, Harvard Medical School
Ming Hui Chen, MD, MMSc, is an Associate Professor of Pediatrics at Harvard Medical School, and a non-invasive cardiologist at Boston Children’s Hospital. She currently serves as Founder and Director of the Cardiovascular Clinic for Brain Development and Genetics (C-BrDG), and the intersection of cardiovascular disease that affects both the brain and heart. During her 25 years at the Harvard Teaching Hospitals, she has focused her translational research on the intersection of cardiology in genetics. In addition, Dr. Chen’s multidisciplinary research includes the investigation of late cardiac effects in childhood cancer survivors, and the development of novel imaging modalities in patients, and use of genetics to understand cardiovascular biology and disease. Her research has been funded by the National Cancer Institute, National Heart Lung and Blood Institute and the American Heart Association.
Ellen Deng
Student
Ellen Deng is currently pursuing her A.B. in Chemistry at Harvard College with a secondary field of History. Working with Dr. Choudhury and Dr. Chen, her research focuses on the intersection of cardiology and genetics, and gender differences in disease through the lens of the gene FLNA.