Researchers at UTHealth Houston have identified a connection between genetic variations in chromosome region 22q11.2 and nonsyndromic bicuspid aortic valve disease. The study, published in Heart, a BMJ Journal, found that large duplications and deletions within this chromosome region were present in 7.4% of participants with early-onset bicuspid aortic valve disease.
Bicuspid aortic valve disease is the most common congenital heart defect, affecting up to 2% of the population. It occurs when the aortic valve has two leaflets instead of three and can lead to serious complications such as thoracic aortic aneurysms and aortic stenosis.
Sara Mansoorshahi and Catherina Tovar Pensa, medical students at McGovern Medical School at UTHealth Houston, are among those leading the research efforts. "Our study focused on assessing the role of variants in the 22q11.2 region in patients with early onset bicuspid aortic valve," said Tovar Pensa.
The researchers utilized whole genome microarray genotyping on 272 patients with early-onset bicuspid aortic valve disease and their biological relatives to identify copy number variations in chromosome 22q11.2. Several gene variants associated with vascular development were identified, including TBX1, CRKL, HIC2, and MAPK1.
Mansoorshahi noted the significance of these findings: "It was reassuring to see it was not a small increase but a statistically significant increase in these genetic variants among bicuspid aortic valve population."
The research received funding from the National Institutes of Health and involved contributions from several authors across different institutions worldwide.
