Author Interviews, Genetic Research, Heart Disease, Neurological Disorders, NIH, Science / 05.12.2015
Mutations In Congenital Heart Disease Also Linked to Neurodevelopmental Abnormalities
MedicalResearch.com Interview with:
Jonathan Kaltman, MD
Chief, Heart Development and Structural Diseases Branch
Division of Cardiovascular Sciences
National Heart, Lung, and Blood Institute
Medical Research: What are the main findings?
Dr. Kaltman: Congenital heart disease (CHD) is the most common birth defect but the cause for most defects is unknown. Surgery and clinical care of patients with congenital heart disease has improved survival but now we are learning that many patients have neurodevelopmental abnormalities, including learning disability and attention/behavioral issues.
Medical Research: What are the main findings?
- Using exome sequencing we found that patients with congenital heart disease have a substantial number of de novo mutations. This finding is especially strong in patients with CHD and another structural birth defect and/or neurodevelopmental abnormalities.
- Many of the genes identified are known to be expressed in both the heart and the brain, suggesting a single mutation may contribute to both congenital heart disease and neurodevelopmental abnormalities.