PURPOSE
Marfan syndrome, Loeys-Dietz syndrome, and heritable thoracic aortic aneurysms and dissections (hTAAD) are autosomal dominant connective-tissue disorders with overlapping features and considerable genetic variability. Many cases arise from pathogenic variants affecting extracellular matrix (ECM) components or T...
Júlia Huguet Herrero, P. Arnaud, A. Bibimbou et al.· Genetics in Medicine· 0 citations
Background: Thoracic aortic aneurysms enlarge silently and can cause fatal aortic dissection without timely surgical repair, underscoring the need for improved approaches to identify individuals at high risk. Rare pathogenic variants in established heritable thoracic aortic disease (HTAD) genes explain only a subset of...
David R. Murdock, Pu-Jun Guan, Dong-Chuan Guo et al.· medRxiv· 0 citations
P/LP HTAAD gene variants confer a substantial population-level increased risk of TAAD, suggesting that integrating monogenic and polygenic risks has the potential to enhance patient risk stratification and treatment.
J. DePaolo, D. Smelser, Dong-Chuan Guo et al.· European Heart Journal· 0 citations
The strongest evidence for aortic involvement was observed for DNMT3A, NF1, PTPN11, PPP1CB, NSD1, ANKRD11, ADNP, and ABL1, including significant rare-variant burden associations for three of these genes.
D. Murdock, B. McGivern, D. Guo et al.· medRxiv· 0 citations
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