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

Marfan, TAAD, Loeys-Dietz, Ehlers-Danlos, Shprintzen-Goldberg, etc.

This panel includes a group of diseases of genetic origin associated with the development of, or predisposition to, aneurysms, dissections, and rupture of the aorta or other branches of the arterial tree.

Even though the pathophysiological mechanism associated with the development of such diseases can be different, often the only evident clinical manifestation is an aortic or vascular event. Among these pathologies are diseases of the connective tissue, such as Marfan, LoeysDietz, Ehlers-Danlos, and Shprintzen-Goldberg genetic syndromes, and familial thoracic aortic aneurysms and dissections (TAAD). The majority of them are inherited in an autosomal dominant pattern, with a significant proportion of sporadic cases due to de novo variants.

Their penetrance and clinical expressivity, including the age of disease onset, the degree of dilatation, and the location of the manifestations in the arterial tree, depend on the type of syndrome, the affected gene, and the type of variant involved.

  • 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.

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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2. Sample collection

Three sample types: saliva, peripheral blood or genomic DNA

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5. Result: the report

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Aortic, Vascular, and Connective Tissue Disorders Panel

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Turnaround time (TAT): 4 weeks

Ref. S-201906109

Aortic, Vascular, and Connective Tissue Disorders Panel: View panel

  • 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.

  • ACTA2
  • ADAMTSL4
  • B3GAT3
  • CBS
  • COL1A1
  • COL1A2
  • COL3A1
  • COL5A1
  • COL5A2
  • EFEMP2
  • ELN
  • FBN1
  • FBN2
  • FLNA
  • FOXE3
  • GAA
  • GATA5
  • HRAS
  • KCNJ8
  • LOX
  • MAT2A
  • MED12
  • MFAP5
  • MYH11
  • MYLK
  • NKX2-5
  • NOTCH1
  • PLOD1
  • PRKG1
  • PTPN11
  • SKI
  • SLC2A10
  • SMAD2
  • SMAD3
  • SMAD4
  • TGFB2
  • TGFB3
  • TGFBR1
  • TGFBR2
  • TNXB
  • ZDHHC9
  • ATP7A
  • BGN
  • C1R
  • C1S
  • CHST14
  • COL12A1
  • COL4A1
  • COL6A1
  • COL6A2
  • COL6A3
  • DSE
  • MMADHC
  • MTHFR
  • MTR
  • MTRR
  • PIEZO2
  • PPP1CB
  • PRDM5
  • ZNF469
  • ADAMTS2*
  • B4GALT7*
  • FKBP14*
  • SLC39A13*

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

Related panels
Cardiovascular Diseases General Panel [405 genes]

Panel that include aortic, vascular and connective tissue disorders genes

References

  • 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.