cardiovascular program for brain development in genetics
Periventricular nodular heterotopia (PVNH) is a rare developmental brain disorder characterized by involvement of the brain and the heart. In fact, one of its most life-threatening complications for these young patients is cardiovascular disease. Mutations in the gene, Filamin A (FLNA), are known to cause PVNH and other diseases in other parts of the body. Recent work, with seminal research by Ming Hui Chen, MD, MMSc, has described cardiovascular disease, including thoracic aortic aneurysms, in patients with FLNA mutations.
"Advances in genomic medicine give us an unprecedented opportunity to understand the relationships between developmental conditions of heart and brain.”
- Ming Hui Chen, Founder & Director
For the last 20 years, Dr. Chen, in collaboration with Christopher A. Walsh, MD, PhD, has been investigating the genetics and clinical cardiovascular ramifications of PVNH and related conditions. With the Walsh team, Chen has described PNVH’s clinical association with Ehlers-Danlos Syndrome in the literature and has further helped analyze the mechanisms for development of congenital heart disease.
Boston’s Children’s clinicians have helped to diagnose more than 250 patient families with periventricular nodular heterotopia (PVNH) and Filamin A mutations over the past 20 years. Our program assembles an interdisciplinary team of experienced neurologists, genetics, genetic counselors, cardiologists, cardiac surgeons, and other medical specialties to give a comprehensive approach to your child’s diagnosis.
We are continuing to conduct research on this disease with the goal of translating any findings quickly to directly help our patients.