The researchers analyzed whole-exome sequencing data from 215 families across more than 20 institutions to uncover these rare genetic variants.

Researchers at UTHealth Houston have identified genetic variants associated with a rare form of bicuspid aortic valve disease, particularly affecting young adults.

Bicuspid aortic valve disease is the most prevalent cause of congenital heart disease, impacting approximately 1 in 100 individuals.

The study specifically focused on individuals under 30 years old who exhibited complications or had relatives affected by early onset bicuspid aortic valve disease.

Dr. Siddharth Prakash noted that young individuals with early onset thoracic aortic dissections are more likely to have bicuspid aortic valves and associated rare genetic variants.

The research revealed damaging variants in genes linked to congenital heart disease in 50% of the families studied.

The primary goal of the research was to identify genetic variants that could predict complications, including the necessity for valve surgery in young patients.

Patients with bicuspid aortic valve disease frequently face delays in diagnosis, which can lead to severe cardiovascular symptoms and a heightened risk of sudden death.

The findings underscore the importance of testing family members for these genetic variants to facilitate early treatment and prevent complications.

Interestingly, the study suggests that older patients with bicuspid aortic valves are unlikely to benefit from genetic testing due to the absence of such variants.

A bicuspid aortic valve features two flaps instead of the normal three, which can disrupt blood flow and potentially result in life-threatening conditions like aortic dissection.

The findings of this significant study were published in the American Journal of Human Genetics.