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Shprintzen-Goldberg
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.
| 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 global 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).
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* |
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).
- Subjects under suspicion or clinical diagnosis of familial thoracic aortic aneurysms and dissections, whether in their syndromic (i.e. associated with a set of clinical characteristics including vascular involvement, as is the case of Marfan syndrome) or non-syndromic forms (when vascular involvement occurs in isolation).
- Familial study: A search for the mutation previously identified in a proband (relatives of patients with syndromic or non-syndromic familial thoracic aortic aneurysms in which a mutation has been previously identified).
Shprintzen-Goldberg syndrome: the genetic testing can identify a pathogenic mutation in the SKI gene (in clinically diagnosed cases).
- 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 and on the suspected syndrome. It can range from over 90%-95% in cases with Marfan or Ehlers-Danlos syndromes with well-established diagnostic criteria, to lower values for other etiologies such as familial thoracic aortic aneurysms and dissections.
Shprintzen-Goldberg syndrome: the genetic testing can identify a pathogenic mutation in the SKI gene (in clinically diagnosed cases).