FBN1
Associated conditions:
- Aortopathy
FBN1 makes fibrillin-1, which forms tiny fibres that give connective tissue its strength and elasticity and helps regulate growth signals. Genetic changes in this gene are associated with an autosomal dominant condition called Marfan syndrome, affecting the skeleton, eyes and especially the aorta. Knowing your genetic status enables monitoring and timely surgery that prevent life-threatening aortic tears.
Conditions linked to FBN1
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.
