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Thoracic Aortic Aneurysm and Dissection (TAAD) and Related Disorders

TAAD is a genetically heterogeneous disorder, which primarily involves problems with the aorta, specifically the thoracic aorta. The major manifestations of TAAD include aortic dilatation, aortic aneurysms, aortic dissection, and aneurysms of the other arteries (i.e. abdominal, cerebral). In addition to cardiac defects, TAAD can manifest with other features including: congenital heart abnormalities, inguinal hernia, [...]

TAAD is a genetically heterogeneous disorder, which primarily involves problems with the aorta, specifically the thoracic aorta. The major manifestations of TAAD include aortic dilatation, aortic aneurysms, aortic dissection, and aneurysms of the other arteries (i.e. abdominal, cerebral). In addition to cardiac defects, TAAD can manifest with other features including: congenital heart abnormalities, inguinal hernia, scoliosis, a purplish skin discoloration (livedo reticularis) caused by abnormalities in the tiny blood vessels of the skin (dermal capillaries), or ocular abnormalities (i.e. iris flocculi). Generally the first feature to present is aortic dilatation, where the aorta is stretched and weakened over time. This dilatation increases the susceptibility to develop aortic aneurysms and aortic dissections. Aortic dissection occurs when a tear in the aorta wall results in bleeding into and along the wall of the aorta. These dissections primarily originate in the ascending aorta (Stanford type A), but also can occur in the descending thoracic aorta (Stanford type B). TAAD results in an increased risk for aortic rupture causing severe internal bleeding.
Familial TAAD is expected to cause about 20% of all cases of thoracic aortic aneurysms and dissections6. This disorder can occur as nonsyndromic TAAD or in conjunction with other genetic syndromes including Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danolos, and other related syndromes.

Tests Available

Marfan Syndrome/TAAD Sequencing Panel

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MED12, MYH11, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2
Clinical Utility:
  • Confirmation of clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with TAAD
  • Differentiation between familial TAAD, Marfan syndrome, Loeys-Dietz syndrome and phenotypically related disorders.
Lab Method:
Next-gen Sequencing

ORDERING

Test Code:
597
Turnaround Time:
10-12 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81405x1, 81408x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Cardiology Billing Policy
ICD Codes:
  • 701.3: Striae atrophicae, Atrophic spots of skin, Atrophoderma maculatum, Atrophy blanche (of Milian), Degenerative colloid atrophy, Senile degenerative atrophy, Striae distensae
  • 759.82: Marfan syndrome
  • 379.32: Subluxation of lens
  • 737.43: Scoliosis
  • 441.00: Unspecified site
  • 441.9: Aortic aneurysm of unspecified site without mention of rupture Aneurysm Dilatation of aorta, Hyaline necrosis of aorta
  • 441.5: Aortic aneurysm of unspecified site, ruptured Rupture of aorta NOS
  • 754.81: Pectus excavatum Congenital funnel chest
  • 512.8: Other spontaneous pneumothorax Pneumothorax
  • 759.7: Multiple congenital anomalies, so described Congenital: anomaly, multiple NOS deformity, multiple NOS
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REFERENCES

  1. de Paepe A et al. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet. 62:417-426, 1996. Loeys BL The revised Ghent Nosology for the Marfan syndrome. J Med Genet 47:476-485, 2010.
  2. Akutsu K et al. Genetic analysis of young adult patients with aortic disease not fulfilling the diagnostic criteria for Marfan syndrome. Circulation 74:990-997, 2010.
  3. Faivre L et al. Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation. Eur J Hum Genet. 17:491-501, 2009
  4. Loeys BL et al. Aneurysm syndromes caused by mutations in the TGF-Beta receptor N Eng J Med 355(8):788-798, 2006.
  5. Guo DC et al. Nature Genetics. 2007, 39(12):1488-1493. (PubMed: 17994018)
  6. Regalado ES et al. Circulation Research. 2011, 109(6):680-686. (PubMed: 21778426)
  7. Arbustini E et al. Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies. Hum Mut. 26:494-509, 2005.
  8. Matyas G et al. Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome. Hum Genet. 122:23-32, 2007
  9. Loeys BL et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 37(3):275-281, 2005.
  10. Boileau C et al. Molecular genetics of Marfan syndrome. Curr Opin Cardiol. 20:194-200, 2005.
  11. Goudie DR et al. Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGRBR1. Nat Genet 43:365-369, 2011
  12. GeneReviews: "Thoracic Aortic Aneurysms and Aortic Dissections" by Milewicz D et al. Genetests; http://www.genetests.org
  13. Online Mendelian Inheritance in Man. www.ncbi.nlm.nih.gov/sites/entrez?db=OMIM
  14. Bennett S. Pharmacogenomics. 2004;5(4):433-8 (PubMed: 15165179)
  15. Van Hemelrijk C et al. The Loeys-Dietz syndrome: An update for the clinician. Curr Opin Cardiol 25:546-551, 2010.
  16. Stheneur C et al. Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. Eur J Hum Genet. 17:1121-1128, 2009.
  17. Loeys BL The revised Ghent Nosology for the Marfan syndrome. J Med Genet 47:476-485, 2010

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