GTR Home > Conditions/Phenotypes > Thoracic aortic aneurysm and aortic dissection

Summary

Excerpted from the GeneReview: Thoracic Aortic Aneurysms and Aortic Dissections
The major cardiovascular manifestations of thoracic aortic aneurysms and aortic dissections (TAAD) include: (1) dilatation of the ascending thoracic aorta at the level of the sinuses of Valsalva or ascending aorta or both; and (2) dissections of the thoracic aorta involving either the ascending (Stanford type A dissections) or descending aorta (Stanford type B). Rarely an aneurysm involving the descending thoracic aorta is observed. Vascular manifestations can be the only findings. In the absence of surgical repair of the ascending aorta, affected individuals typically have progressive enlargement of the ascending aorta leading to an acute aortic dissection. The age of onset and presentation of the aortic disease are highly variable, as are the other vascular diseases and features associated with the aortic disease.

Associated genes

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  • Also known as: ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFLS, MFS1, OCTD, SGS, SSKS, WMS, WMS2, FBN1
    Summary: fibrillin 1

  • Also known as: HSPC193, HsT17436, JV15-2, LDS1C, LDS3, MADH3, SMAD3
    Summary: SMAD family member 3

  • Also known as: AAT5, ACVRLK4, ALK-5, ALK5, ESS1, LDS1, LDS1A, LDS2A, MSSE, SKR4, TGFR-1, tbetaR-I, TGFBR1
    Summary: transforming growth factor beta receptor 1

  • Also known as: AAT3, FAA3, LDS1B, LDS2, LDS2B, MFS2, RIIC, TAAD2, TGFR-2, TGFbeta-RII, TGFBR2
    Summary: transforming growth factor beta receptor 2

Practice guidelines

  • ESC, 2014
    2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC).
  • CCS, 2014
    Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.

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