Walter Velasco Torrez

Dec 9, 2024 | jmg.bmj.com | Michelle Lim |Dong-chuan Guo |Walter Velasco Torrez |Andrew Lai

AbstractBackground Pathogenic variants in TGFB3 may lead to a syndromic genetic aortopathy. Heritable thoracic aortic disease (HTAD) and arterial events may occur in TGFB3-related disease but there are limited outcomes data on vascular events in this condition. Methods Clinical data, phenotypical features and aortic outcomes in individuals with pathogenic/likely pathogenic (P/LP) TGFB3 variants enrolled in the Montalcino Aortic Consortium registry were reviewed.