TGFBR2
Associated conditions:
- Aortopathy
TGFBR2 makes a receptor for the TGF-beta signal that guides how blood vessel walls are built and maintained. Genetic changes in this gene are associated with an autosomal dominant condition called Loeys-Dietz syndrome, in which arteries, especially the aorta, become weak, twisted, and prone to sudden tearing. Knowing your genetic status enables regular imaging, blood-pressure control, and timely surgery that prevent life-threatening ruptures.
Conditions linked to TGFBR2
Aortopathy
Aortopathy refers to weakening or widening (aneurysm) of the aorta, the body’s main artery. Inherited forms can lead to dangerous enlargement or tearing, so carriers are monitored with regular imaging and blood-pressure control, with surgery considered before the aorta reaches a risky size.
