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Contribution of rare chromosome 22q11.2 copy number variants to non-syndromic bicuspid aortic valve

Heart BMJ

Background Bicuspid aortic valve (BAV) is the most common congenital heart defect in adults, often leading to complications such as thoracic aortic aneurysms and aortic stenosis. While BAV is frequently associated with 22q11.2

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Researchers ID Genetic Variants Linked to Bicuspid Aortic Valve Disease

DAIC

1, 2024 — Researchers at UTHealth Houston have identified 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. tim.hodson Wed, 09/04/2024 - 15:53 Sept.

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Coarctation of Aorta and Ascending Aortic Aneurysm

American College of Cardiology

What is the relationship between coarctation of the aorta (COA), bicuspid aortic valve (BAV), and thoracic aortic aneurysms?

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Natural History of Bicuspid and Aneurysm-Associated Aortic Valve Disease

American College of Cardiology

Douglas Weaver MD, MACC discuss the history of and complications associated with bicuspid valvuloaortopathy. In this interview, Hector I. Michelena, MD, FACC and W.

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Single-cell RNA sequencing and ATAC sequencing identify novel biomarkers for bicuspid aortic valve-associated thoracic aortic aneurysm

Frontiers in Cardiovascular Medicine

IntroductionBicuspid aortic valve (BAV) is the most prevalent congenital cardiovascular defect and known to cause thoracic aortic aneurysms (TAAs).

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Windsock mitral valve after prior aortic valve endocarditis

Journal of Cardiothoracic Surgery

Windsock deformities, though rare, represent a severe form of valvular aneurysm distinguished by localized balloon-like protrusions of the leaflet body. Here, we present a compelling case of windsock mitral va.

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Cardiovascular Management of Aortopathy in Children: A Scientific Statement From the American Heart Association

Circulation

Aortopathy encompasses a spectrum of conditions predisposing to dilation, aneurysm, dissection, or rupture of the aorta and other blood vessels. Pathogeneses include connective tissue disorders, smooth muscle contraction disorders, and congenital heart disease, including bicuspid aortic valve, among others.