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Table 7. TAA Syndromes and Conditions Attributable to a
Heritable or Genetic Cause
Condition Gene Clinical Features
Syndromic HTAD*
Marfan
syndrome
FBN1 Aortic root aneurysm, aortic dissection, TAA,
MVP, long bone overgrowth, arachnodactyly,
dolichostenomelia, scoliosis, pectus
deformities, ectopia lentis, myopia, tall stature,
pneumothorax, dural ectasia
Loeys-Dietz
syndrome
TGFBR1,
TGFBR2,
SMAD3,
†
TGFB2, TGFB3
TAA, branch vessel aneurysms, aortic
dissection, arterial tortuosity, MVP,
craniosynostosis, hypertelorism, bluish sclera,
bifid/broad uvula, translucent skin, visible
veins, club feet, dural ectasia, and premature
osteoarthritis and peripheral neuropathy
†
Vascular
Ehlers-Danlos
syndrome
COL3A1 TAA, AAA, arterial rupture, aortic
dissection, MVP, bowel and uterine rupture,
pneumothorax, translucent skin, atrophic
scars, small joint hypermobility, easy bruising,
carotid-cavernous fistula
Arterial
tortuosity
syndrome
SLC2A10 Tortuous large and medium sized arteries,
aortic dilation, craniofacial, skin and skeletal
features
Shprintzen-
Goldberg
syndrome
SKI Craniosynostosis, skeletal features, aortic
dilation
Ehlers-Danlos
syndrome with
periventricular
nodular
heterotopia
FLNA X-linked, periventricular nodular heterotopia,
TAA, BAV, MV disease, PDA, VSD, seizures,
joint hypermobility
Meester-Loeys
syndrome
BGN X-linked, TAA, aortic dissection, MV disease
LOX-related
TAA
LOX TAA, BAV, aortic dissection, Marfanoid
habitus in some
Smooth muscle
dysfunction
syndrome
ACTA2 TAA, moyamoya-like cerebrovascular disease,
pulmonary hypertension, pulmonary disease,
hypoperistalsis, hypotonic bladder, congenital
mydriasis
