Aortic Diseases Global Panel

Aortic, Vascular, and Connective Tissue Disorders Panel
[64 genes]

This panel is indicated in the presence of aortic vascular diseases, aneurysms, or dissections without a clear cause, especially when they show familial segregation or when any of the above-mentioned syndromes is suspected.

It includes all genes associated with these pathologies, gathered from a systematic literature review.

Study requisition form
Informed consent
ACTA2ADAMTSL4B3GAT3CBSCOL1A1COL1A2COL3A1COL5A1COL5A2EFEMP2
ELNFBN1FBN2FLNAFOXE3GAAGATA5HRASKCNJ8LOX
MAT2AMED12MFAP5MYH11MYLKNKX2-5NOTCH1PLOD1PRKG1PTPN11
SKISLC2A10SMAD2SMAD3SMAD4TGFB2TGFB3TGFBR1TGFBR2TNXB
ZDHHC9ATP7ABGNC1RC1SCHST14COL12A1COL4A1COL6A1COL6A2
COL6A3DSEMMADHCMTHFRMTRMTRRPIEZO2PPP1CBPRDM5ZNF469
ADAMTS2*B4GALT7*FKBP14*SLC39A13*
Aortic, Vascular, and Connective Tissue Disorders Panel [64 genes]

This panel is indicated in the presence of aortic vascular diseases, aneurysms, or dissections without a clear cause, especially when they show familial segregation or when any of the above-mentioned syndromes is suspected.

It includes all genes associated with these pathologies, gathered from a systematic literature review.

Study requisition form
Informed consent
ACTA2ADAMTSL4B3GAT3CBS
COL1A1COL1A2COL3A1COL5A1
COL5A2EFEMP2ELNFBN1
FBN2FLNAFOXE3GAA
GATA5HRASKCNJ8LOX
MAT2AMED12MFAP5MYH11
MYLKNKX2-5NOTCH1PLOD1
PRKG1PTPN11SKISLC2A10
SMAD2SMAD3SMAD4TGFB2
TGFB3TGFBR1TGFBR2TNXB
ZDHHC9ATP7ABGNC1R
C1SCHST14COL12A1COL4A1
COL6A1COL6A2COL6A3DSE
MMADHCMTHFRMTRMTRR
PIEZO2PPP1CBPRDM5ZNF469
ADAMTS2*B4GALT7*FKBP14*SLC39A13*
Nota genes
NOTES ON GENES
-> Priority genes: Genes where there is sufficient evidence (clinical and functional) to consider them as associated with the disease; they are included in clinical practice guidelines. -> Secondary genes: Genes related to the disease but with a lower level of evidence
or constituting sporadic cases. -> * Candidate genes: Without sufficient evidence in humans but potentially associated with the disease.
  • Subjects under suspicion of or clinically diagnosed with familial thoracic aortic aneurysms and dissections, whether in their syndromic (i.e. associated with a set of clinical characteristics including vascular involvement) or non-syndromic forms (when vascular involvement occurs in isolation).
  • Familial study: A search for a mutation previously identified in a proband; relatives of affected patients in whom a pathogenic variant or a variant likely to be associated with the familial disease has been previously identified.
  • 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic Disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. Hiratzka LF et al. Circulation. 2010 Apr 6; 121(13):e266-369
  • Medical management of aortic disease in children with Marfan syndrome. Curr Opin Pediatr. 2018 Oct
  • Genetic Disorders of the Thoracic Aorta and Indications for Surgery. Cardiol Clin. 2017 Aug
  • Loeys-Dietz syndrome: a primer for diagnosis and management. Genet Med. 2014 Feb 27
  • The 2017 international classification of the Ehlers–Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017 March 17
  • The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome. Eur J Hum Genet. 2015 Feb
  • TGF-β Signaling-Related Genes and Thoracic Aortic Aneurysms and Dissections. Int J Mol Sci. 2018 Jul 21
  • Management and Outcomes of Aortic Dissection in Pregnancy with Marfan syndrome: A Systematic Review. Curr Vasc Pharmacol. 2019 Apr 8

The probability of identifying a variant associated with familial thoracic aortic aneurysms and dissections depends on how distinct the clinical manifestations of the disease are, on the clinical picture, and on the suspected syndrome. It can reach values over 90%-95% in cases with Marfan syndrome, while it is lower for other etiologies such as familial thoracic aortic aneurysms and dissections.

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