26
Treatment
Table 7. TAA Syndromes and Conditions Attributable to a
Heritable or Genetic Cause
Condition Gene Clinical Features
Nonsyndromic HTAD (Familial TAA)
FTAA ACTA2 TAA, aortic dissection, premature CAD and
moyamoya-like cerebrovascular disease, livedo
reticularis, iris flocculi
FTAA MYH11 TAA, aortic dissection, PDA
FTAA MYLK Aortic dissection at relatively small aortic size
FTAA PRKG1 Aortic dissection at young ages at small aortic
sizes
FTAA MAT2A TAA, aortic dissection, BAV
FTAA MFAP5 TAA, aortic dissection, skeletal features may
be present
FTAA FOXE3 TAA, aortic dissection
FTAA THSD4 TAA, aortic dissection
Bicuspid Aortic Valve–Associated Ascending Aortic Aneurysm
Familial BAV/
AS and TAA
NOTCH1 Aortic valve stenosis, TAA
BAV with TAA TGFBR2,
MAT2A, GATA5,
SMAD6, LOX,
ROBO4, TBX20
Syndromic and nonsyndromic HTAD and
FTAA with an increased frequency of BAV
Turner syndrome XO, Xp BAV, CoA, TAA, aortic dissection, short
stature, lymphedema, webbed neck, premature
ovarian failure
* Some individuals with pathogenic variants in a gene that can lead to syndromic HTAD have
very few or no syndromic features, and variants in some genes causing syndromic HTAD
may also lead to nonsyndromic HTAD.
†
SMAD3 premature osteoarthritis and peripheral neuropathy.
Table 8. Risk Factors for Familial TAD
TAD and syndromic features of Marfan syndrome, Loeys-Dietz syndrome, or vascular
Ehlers-Danlos syndrome
TAD presenting at age <60 y
A family history of either TAD or peripheral/intracranial aneurysms in a first- or
second-degree relative
A history of unexplained sudden death at a relatively young age in a first- or second-
degree relative
(cont'd)
