This paper describes clinical features and aortic outcomes in patients with heritable thoracic aortic disease (HTAD) due to TGFB3 variants. Aortic dilation occurred in some but not all individuals, but aortic dissection (a tear in the aortic wall) occurred in very few patients and at older ages and at larger aortic diameters than in those with LDS due to other genetic variants. Thus, the aortic disease in TGFB3-related HTAD is less severe than other forms of LDS. In patients with TGFB3-related HTAD, lifelong surveillance is required and surgery to replace the aorta is recommended when the aorta reaches 5 cm. (By Dr. Michelle Su-Anne Lim, https://jmg.bmj.com/content/early/2024/12/09/jmg-2024-110251 )
Aortic and Arterial Manifestations and Clinical Features in TGFB3-Related Heritable Thoracic Aortic Disease: Results from the Montalcino Aortic Consortium
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