Thoracic aortic disease genes

Genes that can cause thoracic aortic aneurysms and dissections

Researchers have identified hundreds of pathogenic variants in 11 different genes that can cause aortic disease. Some of these genes are associated with syndromes, where patients have multiple body systems impacted, for example FBN1 and Marfan Syndrome. Some cause thoracic aortic disease without problems in other parts of the body. Others are found in patients with and without problems in other body systems. Further genes will be identified in the future.

FBN1 – associated with Marfan Syndrome

COL3A1 – associated with Vascular Ehlers-Danlos Syndrome (VEDS)

LOX

ACTA2

MYH11

MYLK

PRKG1

TGFBR1 – can be associated with Loeys-Dietz Syndrome

TGFBR2 – can be associated with Loeys-Dietz Syndrome

SMAD3 – can be associated with Loeys-Dietz Syndrome

TGFB2 – can be associated with Loeys-Dietz Syndrome