Table 3.

Surgical Thresholds for Prophylactic Replacement of the Aortic Root and Ascending Aorta by HTAD Gene

GeneDiameter of Aortic Root or Ascending Aorta
ACTA2 ≥4.2 to ≥4.5 cm 1
FBN1 ≥4.5 to ≥5.0 cm 1
PRKG1 Normal aortic diameter to ≥4.2 cm 1
SMAD3 ≥4.5 cm
TGFB2 ≥4.5 cm
TGFB3 ≥5.0 cm
TGFBR1 ≥4.0 to ≥4.5 cm 1
TGFBR2 ≥4.0 to ≥4.5 cm 1
LOX
MYH11
MYLK 		There is limited data to establish surgical thresholds; however, type A dissections may present at aortic diameters <5.0 cm & differ by gene. Timing of aortic repair should account for aortic diameter, age, family history, other clinical risk factors, & studies reporting risk of dissection & aortic diameters at the time of dissection or repair in individuals w/pathogenic variant(s) in a specific HTAD-related gene.
1.

Depending on presence of other risk factors and surgical expertise

From: Heritable Thoracic Aortic Disease Overview

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