SMAD3
Associated conditions:
- Aortopathy
SMAD3 relays TGF-beta growth signals that keep blood vessel walls strong. Genetic changes in this gene are associated with an autosomal dominant condition called Loeys-Dietz syndrome, with aneurysms and early osteoarthritis that weaken the aorta so it can enlarge and tear. Knowing your genetic status enables regular arterial imaging and blood-pressure control.
Conditions linked to SMAD3
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.
