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Inherited Aortopathies

Definition

Aortopathies are the hereditary diseases of the aortic artery which makes it susceptible to aneurysms at any level. An aneurysm is a localized arterial dilation which when untreated can culminate in catastrophic consequences such as dissection or rupture. Aortic aneurysms convey a significant mortality burden since only 5% are forewarned by symptoms. Thoracic aneurysms are more likely to be associated with a genetic background, presenting as either part of syndromic disorder or an isolated aberration. Examples of syndromatic disorders include some collagenopathies as: Marfan Syndrome, Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome. Patients with aortic aneurysm due to hereditary disorders (Ehlers-Danlos, Loeys-Dietz Syndrome and Marfan Syndrome) can also have intracranial aneurysms. This incidence can be as high as 25%

Why to perform genetic testing in cases with suspected Hereditary Aortopathies?

  • To precisely diagnose the cause of the disease and identify syndromatic forms which can present with other phenotypes in the evolution of the disease, including cerebral aneurysm.
  • To identify family members at risk who may require medical follow up

Our basic Hereditary Aortopathies panel

ACTA2, COL3A1, FBN1, FOXE3, MYH11, MYLK, LOX, NOTCH1, PRKG1, SMAD3, TGFBR1, TGFBR2, 

Our expanded Hereditary Aortopathies panel

ACTA2, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, FOXE3,  GATA5, EFEMP2, ELN, LOX, MYH11, MYLK, NOTCH1, PRKG1, ROBO4, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, MYLK.

Important: All our panels can be modified based on the phenotype. Please contact us if you have questions

What to expect from the Inherited Aortopathies genetic test panel: Up to 25% of individuals with thoracic aortic disease harbor an underlying Mendelian pathogenic variant.

 

Recommended Literature

  • Aetiology and management of hereditary aortopathy. Verstraeten A. et al. Nat Rev Cardiol. 2017 Apr;14(4):197-208. doi: 10.1038/nrcardio.2016.211. Epub 2017 Jan 19.
  • Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection. Renard M, et al. J Am Coll Cardiol. 2018 Aug 7;72(6):605-615. doi: 10.1016/j.jacc.2018.04.089.
  • The pathogenesis of thoracic aortic aneurysm from hereditary perspective. Wu L. Gene. 2018 Nov 30;677:77-82. doi: 10.1016/j.gene.2018.07.047.

Download here interesting open access manuscripts on Hereditary Aortopathies