ELN
Associated conditions:
- Connective tissue disorder
- Aortopathy
ELN makes elastin, the protein that lets blood vessels, skin and lungs stretch and spring back. Genetic changes in this gene reduce elastin and are associated with an autosomal dominant narrowing of the main artery from the heart (supravalvular aortic stenosis), or loose skin and vessel problems in cutis laxa. Knowing your genetic status enables early heart monitoring.
Conditions linked to ELN
Connective tissue disorder
Connective tissue disorders affect the collagen and elastic tissue that support skin, joints, blood vessels and organs. Depending on the type they can affect joints, skin and the aorta, so care is tailored and often includes heart and vessel monitoring.
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.
