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
TGFB3 – can be associated with Loeys-Dietz Syndrome