Research uncovers genetic variants in mitral valve conditions
Recent research from second-year McGovern Medical Student Kishan Asokan, and the lab of Siddharth Prakash, MD, PhD, professor in the Department of Internal Medicine, on genetic variants of mitral valve conditions has been published in the Journal of the American Heart Association.
The study focused on three mitral valve conditions: mitral regurgitation, mitral valve prolapse, and mitral annular disjunction, all of which are relatively rare in the general population, but are common in patients with heritable thoracic aortic aneurysms and dissections (HTAD).
“We found that these unusual mitral valve conditions are increased in people with specific types of gene variants, especially variants in the SMAD3 gene,” Asokan said. “SMAD3 and other related gene variants that cause HTAD all affect the function of TGF-beta, a protein that is critical for heart development.”
Using data from the Montalcino Aortic Consortium Registry, the team discovered that people with genetic variants that cause HTAD in conjunction with one of the three mitral valve conditions are at very high risk for severe heart complications such as experiencing aortic dissection or needing heart surgery.
“Our research found that mitral valve conditions are common in people with certain gene variants, particularly in the SMAD3 gene,” Asokan said. “People with variants in the SMAD3 gene who have mitral problems are at high risk of severe heart complications. Mitral problems in people with SMAD3 variants could also be an early warning signal, and these patients, especially if they have a family history of HTAD, should receive genetic testing.”
Moving forward, Asokan’s research is investigating the relationship between bicuspid aortic valve (BAV) and HTAD on aortic outcomes using data from the Montalcino Aortic Consortium Registry.
Contributors to the research include Prakash, who served as the principal investigator for the project; Dianna Milewicz, MD, PhD, director of the Division of Medical Genetics and founding member of the Montalcino Aortic Consortium; and Jennifer Landes, MS4 at McGovern Medical School.