Rare genetic variants linked to bicuspid aortic valve disease in young adults identified by UTHealth Houston researchers
Siddharth Prakash, MD, and his team analyzed whole-exome sequencing data, sourced from 215 families from over 20 institutions to identify the rare genetic variants known to cause congenital heart disease. (Photo by UTHealth Houston)
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 today 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 at McGovern Medical School at UTHealth Houston. “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.”