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Author

D. Milewicz

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Review Open access Sep 2026

Thoracic aortic disease: prognostic role of gene variants and polygenic risk scores.

BACKGROUND AND AIMS Thoracic aortic aneurysm and dissection (TAAD) can have catastrophic health consequences. Eleven genes have strong or definitive evidence for causing heritable TAAD (HTAAD). The aim of this work was to determine the prevalence and effect of rare, pathogenic or likely pathogenic (P/LP) variants in HT...

J. DePaolo, D. Smelser, Dong-Chuan Guo et al. · 0 citations
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. · 0 citations

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