Rare type I collagen variants in early-onset bicuspid aortic valve disease: Overlap with Ehlers-Danlos syndrome and osteogenesis imperfecta.

doi:10.1016/j.xhgg.2026.100627

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Article

Rare type I collagen variants in early-onset bicuspid aortic valve disease: Overlap with Ehlers-Danlos syndrome and osteogenesis imperfecta.

HGG advances - 9 Jul 2026

Mansoorshahi Sara, Pensa Catherina Tovar, Carter Erin, Sabate-Rotes Anna, Michelena Hector I, Yetman Anji T, De Backer Julie, Mosquera Laura Muiño, Bissell Malenka M, Andreassi Maria Grazia, Foffa Ilenia, Hui Dawn S, Caffarelli Anthony, Kim Yuli Y, Citro Rodolfo, De Marco Margot, Tretter Justin T, McBride Kim L, Body Simon C, Raggio Cathleen, Milewicz Dianna M, Prakash Siddharth K

Abstract excerpt

Bicuspid aortic valve (BAV) is the most common congenital heart lesion in adults and is often associated with thoracic aortic aneurysms and aortic stenosis. The genetic causes of most non-syndromic cases of BAV remain unknown. Pathogenic variants in COL1A1 or COL1A2, which encode type I collagen (COL1), cause osteogenesis imperfecta (OI), a rare disorder marked by bone fragility. Although aortic valve phenotypes,...

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Identifiers

PMID: 42157492
DOI: 10.1016/j.xhgg.2026.100627
PMCID: PMC13273786

Genes

COL1A1
COL1A2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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