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TGFB3

Associated conditions:

  • Aortopathy

TGFB3 makes a signaling molecule in the TGF-beta pathway that guides how connective tissue and the walls of blood vessels form. Genetic changes in this gene are associated with an autosomal dominant form of Loeys-Dietz syndrome, weakening the aorta and predisposing to aneurysms and dissection. Knowing your genetic status enables regular scans of the aorta and blood-pressure control.

Conditions linked to TGFB3

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.