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Management of bicuspid aortic valve disease in the transcatheter aortic valve implantation era

Heart BMJ

In an era of rapidly expanding use of transcatheter aortic valve implantation (TAVI), the management of patients with bicuspid aortic valve (BAV) disease is far less well established than in those with trileaflet anatomy.

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Aortic valve replacement in a bicuspid aortic valve patient followed by reoperation for ascending aorta rupture: a case report

Frontiers in Cardiovascular Medicine

Bicuspid aortic valve (BAV), the most common congenital cardiac anomaly, predisposes individuals to aortic stenosis and regurgitation due to valve degeneration.

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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 This study is aimed to assess the role of rare 22q11.2 region (18–24 Mb).

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Rare genetic variants linked to bicuspid aortic valve disease in young adults identified

Medical Xpress - Cardiology

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 have been identified by researchers at UTHealth Houston.

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Early experience with a novel transapical transcatheter aortic valve system in patients with severe aortic stenosis: a prospective, multicenter study

Frontiers in Cardiovascular Medicine

ObjectivesRegistered, prospective, multicenter study of the short-term clinical outcomes of a novel transcatheter aortic valve system (Xcor system, Saint Medical Technology, Inc., of patients showedmild paravalvular leakage, and all 125 (100%) patients were in New York Heart Association ClassII.

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Link between gene duplications and deletions within chromosome region and nonsyndromic bicuspid aortic valve disease

Science Daily - Heart Disease

Large and rare duplications and deletions in a chromosome region known as 22q11.2 , which involves genes that regulate cardiac development, are linked to nonsyndromic bicuspid aortic valve disease.

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Case Report: Rare cardiovascular characteristics of tuberous sclerosis complex with novel TSC2 variant

Frontiers in Cardiovascular Medicine

The co-occurrence of a bicuspid aortic valve (BAV) with TSC is exceedingly rare.Case summaryWe report the case of a 26-year-old woman with genetically confirmed TSC, harboring a novel pathogenic variant in the TSC2 gene. multi-system characteristics of TSC were also presented, affecting skin, brain, lung, kidney, and bone.