Research identifies rare genetic variant in bicuspid aortic valve disease
Genetic variants linked to a rare form of bicuspid aortic valve disease that affects young adults and can lead to dangerous and potentially life-threatening aortic complications have been identified by researchers at UTHealth Houston.
The study was published in the American Journal of Human Genetics.
“We previously found that young individuals who present due to early onset thoracic aortic dissections are more likely to have bicuspid aortic valves and more likely to have rare variants in bicuspid aortic valve-associated genes,” said Siddharth Prakash, MD, PhD, co-principal investigator of the study and associate professor of medical genetics and cardiovascular medicine in the Department of Internal Medicine. “When we observed that bicuspid aortic valve is kind of a risk marker for this group with bad outcomes, we specifically wanted to see whether young individuals who present clinically due to problems related to bicuspid aortic valve disease may also have rare genetic variants that predict complications such as needing valve surgery.”