Aortic, Vascular, and Connective Tissue Disorders

Aortic, Vascular, and Connective Tissue Disorders

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

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
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*

Cardiovascular diseases general panel [405 genes]: this panel includes all genes associated or potentially associated with the development of inherited cardiovascular diseases as well as genes associated with increased global/general cardiovascular risk.

It covers a group of heterogeneous diseases, and genetic testing allows for the differential diagnosis between them. It is also useful when a multigenic etiology is suspected.

It should be considered when an exhaustive study of all genes related to cardiovascular pathologies is intended, especially in cases of sudden death where clinical or pathological information is incomplete or the diagnosis is unclear.

As for research, it is an attractive alternative to the exomes because it includes both genes with proven pathogenicity and candidate genes. The study ensures maximum yield with adequate coverages (which allows for assessing structural variants, such as large deletions and duplications).

Study requisition form
Informed consent

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
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*

This panel includes all genes associated or potentially associated with the development of inherited cardiovascular diseases as well as genes associated with increased global/general cardiovascular risk.

It covers a group of heterogeneous diseases, and genetic testing allows for the differential diagnosis between them. It is also useful when a multigenic etiology is suspected.

It should be considered when an exhaustive study of all genes related to cardiovascular pathologies is intended, especially in cases of sudden death where clinical or pathological information is incomplete or the diagnosis is unclear.

As for research, it is an attractive alternative to the exomes because it includes both genes with proven pathogenicity and candidate genes. The study ensures maximum yield with adequate coverages (which allows for assessing structural variants, such as large deletions and duplications).

Study requisition form
Informed consent
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.

Cookies settings
When you visit our website, it may store information through your browser from specific services, usually in the form of cookies. It is worth noting that blocking somo types of cookies may impact your experience on our website.