What other genetic diseases should be considered in a patient with aortic aneurysm or dissection?
In general, the younger a person is in whom an aneurysm has been identified, the more likely the patient has a genetic cause. The following have been described (most are AD).
Diseases associated with defects in ECM proteins:
- • Cutis laxa: mutations in elastin gene
- • EDS vascular type: type III collagen
- • EDS kyphoscoliosis type: lysyl hydroxylase deficiency
- • Menkes syndrome: copper deficiency
- • William syndrome: deletion of the elastin (ELN) locus
- • Meester–Loeys syndrome: BGN gene mutation.
Diseases caused by matrix-cell signaling defects:
- • MFS: Fibrillin-1 mutation
- • Loeys–Dietz syndrome: Mutations in the TGFBR1, TGFBR2, SMAD3, TGFB2, or TGFB3 genes lead to defects in the transforming growth factor beta (TGF-β) pathway.
- • Shprintzen–-Goldberg syndrome: SKI gene mutation
Diseases associated with intracellular protein defects
- • Familial aortic aneurysm: smooth muscle gene mutations (ACTA2, MYH11, myosin light chain kinase)
- • Arterial tortuosity syndrome: glucose transporter 10 mutation (SLC2A10)
- • Pseudoxanthoma elasticum: mutations in ABCC6 gene
- • Homocystinuria: CBS gene mutation (cystathione beta synthase protein)
- • Lujan syndrome, Ohdo syndrome: MED12 mutation.
First-degree relatives of patients with a gene mutation associated with aortic aneurysm and/or dissections should undergo counseling and genetic testing (large testing panels are available commercially through companies such as GeneDx).
