Bicuspid Aortic Valve: Gene Duplication & Deletion Link
- Researchers at UTHealth Houston have discovered a link between duplications adn deletions in chromosome region 22q11.2 and nonsyndromic bicuspid aortic valve disease.
- The research,published in Heart,found that 7.4% of participants wiht early-onset bicuspid aortic valve had rare duplications or deletions in the 22q11.2 region.
- Bicuspid aortic valve disease, affecting up to 2% of the population, is a common congenital heart defect where the aortic valve has two leaflets instead of three.
Uncover a groundbreaking link: chromosome 22 variations and bicuspid aortic valve (BAV) disease. New research from UTHealth Houston reveals specific genes, including TBX1, CRKL, and HIC2, tied to the condition. The study highlights how duplications and deletions in the 22q11.2 region may influence BAV severity and the risk of complications. This discovery could pave the way for refined risk stratification and advancements in genetic testing. News Directory 3 is keeping a close eye on this emerging area of study. Will this lead to enhanced patient outcomes and improved management? Discover what’s next …
Chromosome Variations Linked to Bicuspid Aortic Valve Disease
Updated June 22, 2025
Researchers at UTHealth Houston have discovered a link between duplications adn deletions in chromosome region 22q11.2 and nonsyndromic bicuspid aortic valve disease. The study highlights the critically important role genes in this region play in cardiac development.
The research,published in Heart,found that 7.4% of participants wiht early-onset bicuspid aortic valve had rare duplications or deletions in the 22q11.2 region. These variations on chromosome 22 may influence the severity of the disease and the risk of complications.
Bicuspid aortic valve disease, affecting up to 2% of the population, is a common congenital heart defect where the aortic valve has two leaflets instead of three. This condition, often inherited, can lead to serious complications such as aortic aneurysms and aortic stenosis.
Sara Mansoorshahi and Catherina Tovar Pensa, medical students at McGovern Medical School at UTHealth Houston, are investigating the variants in the 22q11.2 region and nonsyndromic bicuspid aortic valve.
“Our study focused on assessing the role of variants in the 22q11.2 region in patients with early onset bicuspid aortic valve, and to determine if these variants could potentially be considered as part of risk stratification for bicuspid aortic valve patients and help predict complications and guide further management,” said Tovar Pensa, co-first author.
DiGeorge syndrome, a 22q11.2 deletion syndrome, occurs when a portion of chromosome 22 is missing.This can cause heart defects, learning difficulties, and other health issues.
The researchers used whole genome microarray genotyping on 272 patients with early-onset bicuspid aortic valve disease and 272 relatives. They analyzed copy number variations in the 22q11.2 chromosome and gathered data on the participants’ medical histories.
The study identified variants involving genes like TBX1, CRKL, HIC2, and MAPK1, which are vital for vascular development.Previously, TBX1 variations were not explicitly linked to bicuspid aortic valve disease. Mutations in these genes may also cause learning differences and other conditions,prompting genetic testing for patients with early-onset complications.
“It was reassuring to see it was not a small increase, but a statistically notable increase in these genetic variants among bicuspid aortic valve population, and to be able to show that with more research in this area, this region could be an important area of interest for future genetic testing,” said Mansoorshahi.
What’s next
Further research will explore the potential of genetic testing to identify individuals at higher risk for complications related to bicuspid aortic valve disease, potentially improving patient management and outcomes. Understanding the genetic role in heart conditions is key.