Author

B. McGivern

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Open access Sep 2026

Thoracic Aortic Disease in Genetic Syndromes Beyond Established Aortopathy Genes

Background: Heritable thoracic aortic aneurysms and dissections (HTAD) are caused by rare variants in up to 42 genes, but many affected individuals and families remain genetically unsolved. We sought to determine if aortic phenotypes occurred in cases with de novo pathogenic variants in known syndromic genes. Methods:...

D. Murdock, B. McGivern, D. Guo et al. · medRxiv · 0 citations