AHA/ACC Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease (2010)

View the full text of the Guidelines

Commentary by Reed E. Pyeritz, MD, PhD

Pocket Guidelines

Click here to request a copy.

Support Our Mission

Familial T.A.A. & dissections

Back

Familial thoracic aneurysms and dissections

A genetic basis of nonsyndromic familial thoracic aortic aneurysms and dissection has only recently been defined. Familial aggregation studies of patients referred for repair of thoracic aortic aneurysm and dissection that did have a genetic defect have indicated that between 100% and 19% of these patients have a first-degree relative with thoracic aortic aneurysms and dissection.1

Gene defects associated with familial thoracic aortic aneurysm and Dissection

Defection Gene Leading to Familial Thoracic Aortic Aneurysms and DissectionContribution to Familial Thoracic Aortic Aneurysms and DissectionAssociated Clinical FeaturesComments on Aortic Disease
TGFBR2 mutations4%
  • Thin, translucent skin
  • Arterial or aortic tortuosity
  • Aneurysm of arteries
Multiple aortic dissectionsdocumented at aortic diameters <5.0 cm
MYH11 mutations1%
  • Patent ductus arteriosus
Patient with documenteddissection at 4.5 cm
ACTA2 mutations14%
  • Livedo reticularis
  • Iris flocculi
  • Patent ductus arteriosus
  • Bicuspid aortic valve
Two of 13 patients withDocumented dissections <5.0 cm
ACTA2 indicates actin, alpha 2, smooth muscle aorta; MYH11, smooth muscle specific beta-myosinheavy chain; and TGFBR2, transforming growth factor-beta receptor type II.

Recommendations for Management

Class I
  1. Aortic imaging is recommended for first-degree relatives of patients with thoracic aortic aneurysm and/or dissection to identify those with asymptomatic disease. (LOE: B)
  2. If the mutant gene (FBN1, TGFBR1, TGFBR2, COL3A1, ACTA2, MYH11) associated with aortic aneurysm and/or dissection is identified in a patient, first-degree relatives should undergo counseling and testing. Then, only the relatives with the genetic mutation should undergo aortic imaging. (LOE: C)
Class IIa
  1. If one or more first-degree relatives of a patient with known thoracic aortic aneurysm and/or dissection are found to have thoracic aortic dilatation, aneurysm, or dissection, then imaging of second-degree relatives is reasonable. (LOE: B)
  2. Sequencing of the ACTA2 gene is reasonable in patients with a family history of thoracic aortic aneurysms and/or dissections to determine if ACTA2 mutations are responsible for the inherited predisposition. (LOE: B)
 
Class IIb
  1. Sequencing of other genes known to cause familial thoracic aortic aneurysms and/or dissection (TGFBR1, TGFBR2, MYH11) may be considered in patients with a family history and clinical features associated with mutations in these genes. (LOE: B)
  2. If one or more first-degree relatives of a patient with known thoracic aortic aneurysm and/or dissection are found to have thoracic aortic dilatation, aneurysm, or dissection, then referral to a geneticist may be considered. (LOE: C)
       

1 Hiratzka LF, Bakris GL, Beckman JA, et al. 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease: Executive Summary. J Am Coll Cardiol. 2010;55(14):1509-1544. doi:10.1016/j.jacc.2010.02.010.