Observational studyHeart (British Cardiac Society)2025
Contribution of rare chromosome 22q11.2 copy number variants to non-syndromic bicuspid aortic valve.
Observational study in Heart (British Cardiac Society), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01823432 (Genetic Risks for Bicuspid Aortic Valve Disease), which is not on this map. Cited by 2 papers.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Genetic Risks for Bicuspid Aortic Valve Disease
Who cites it
2 citing papers in PubMed.
- Rare type I collagen variants in early-onset bicuspid aortic valve disease: Overlap with Ehlers-Danlos syndrome and osteogenesis imperfecta.HGG advances · 2026Article
- Bicuspid Aortic Valve in Heritable Thoracic Aortic Disease: Insights from the Montalcino Aortic Consortium.medRxiv : the preprint server for health sciences · 2025Article
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Authors and funding
25 authors.
Funding
Abstract
backgroundBicuspid 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 deletion syndrome (22q11.2DS), the contribution of rare copy number variants (CNVs) in this region to non-syndromic BAV is less clear. This study is aimed to assess the role of rare 22q11.2 CNVs in patients with early-onset BAV (EBAV) and to determine whether these variants are linked to an increased risk of complications.
methodsWhole genome microarray genotyping was conducted on 272 patients with BAV with early onset valve or aortic disease (EBAV) and 272 biological relatives. CNVs were detected using three independent algorithms, focusing on the 22q11.2 region (18-24 Mb). CNV burden in the EBAV cohort was compared with unselected European ancestry controls.
resultsRare duplications and deletions within the 22q11.2 region, particularly involving genes associated with cardiac development, were identified in 7.4% of EBAV probands. These CNVs were significantly enriched compared with the general population and segregated with BAV in families. Individuals carrying rare 22q11.2 CNVs had a higher prevalence of psychiatric diagnoses and learning difficulties, although they did not exhibit the typical features of 22q11.2DS. Importantly, these CNVs were associated with early onset or complex BAV cases, underscoring their potential clinical relevance.
conclusionsRare 22q11.2 CNVs play a role in non-syndromic BAV, particularly in cases with early onset or complex presentations. CNV screening could be considered as part of risk stratification for patients with BAV, helping to predict complications and guide management. TRIAL REGISTRATION NUMBER: NCT01823432.
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