Medicine:Familial thoracic aortic aneurysm and aortic dissection

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Familial thoracic aortic aneurysm and aortic dissection
Autosomal dominant inheritance, pedigree example.png
This disorder is inherited in an autosomal dominant fashion.
SpecialtyMedical genetics, Cardiology
Symptomshigh frequency of thoracic aortic aneurysms and aortic dissections in the family (including oneself)
ComplicationsAortic rupture
Usual onsetAdolescence to early adulthood
DurationLife-long
CausesGenetic mutation
PrognosisPoor
FrequencyNot known

Familial thoracic aortic aneurysm and aortic dissection is a very rare vascular genetic disorder, it's characterized by recurrent thoracic aortic aneurysms and aortic dissections within a family, these mentioned complications affect one or more aortic segments without any other disease being associated with them. People with this disorder have a higher chance of having a potentially fatal aortic rupture.[1][2] This disorder is the cause of 20% of thoracic aortic aneurysms[3][4]

Some families affected by this condition have shown mild versions of some symptoms that are associated with Marfan syndrome and Loeys-Dietz syndrome, these signs include tall stature, joint hypermobility, cutaneous stretch marks, and either pectus excavatum or pectus carinatum. Less common symptoms in other affected families include scoliosis, congenital heart defects, inguinal hernia, and/or livedo reticularis.[5]

Etiology

This disorder is caused by mutations in one or more of the following genes:[6][7][8]

This disorder is inherited in an autosomal dominant manner, meaning only one copy of a mutated gene is needed in order for the disease to develop.[9]

References

  1. ↑ "Orphanet: Familial thoracic aortic aneurysm and aortic dissection". https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=91387. 
  2. ↑ Omar, Sabry; Moore, Tyler; Payne, Drew; Momeni, Parastoo; Mulkey, Zachary; Paone, Ralph; Nugent, Kenneth (2014). "Familial Thoracic Aortic Aneurysm with Dissection Presenting as Flash Pulmonary Edema in a 26-Year-Old Man". Case Reports in Medicine 2014: 1–4. doi:10.1155/2014/842872. PMID 25104961. 
  3. ↑ "Thoracic Aortic Aneurysm & Aortic Dissection". https://marfan.org/conditions/familial-aortic-aneurysm/. 
  4. ↑ Guo, Dong-Chuan; Regalado, Ellen S.; Minn, Charles; Tran-Fadulu, Van; Coney, Joshua; Cao, Jiumei; Wang, Min; Yu, Robert K. et al. (2011). "Familial Thoracic Aortic Aneurysms and Dissections". Circulation: Cardiovascular Genetics 4 (1): 36–42. doi:10.1161/circgenetics.110.958066. PMID 21163914. 
  5. ↑ "Familial thoracic aortic aneurysm and dissection: MedlinePlus Genetics". https://medlineplus.gov/genetics/condition/familial-thoracic-aortic-aneurysm-and-dissection/#causes. 
  6. ↑ "Familial thoracic aortic aneurysm and aortic dissection - About the Disease - Genetic and Rare Diseases Information Center". https://rarediseases.info.nih.gov/diseases/2249/familial-thoracic-aortic-aneurysm-and-aortic-dissection. 
  7. ↑ Keramati, Ali R.; Sadeghpour, Anita; Farahani, Maryam M.; Chandok, Gurangad; Mani, Arya (2010). "The non-syndromic familial thoracic aortic aneurysms and dissections maps to 15q21 locus". BMC Medical Genetics 11: 143. doi:10.1186/1471-2350-11-143. PMID 20937124. 
  8. ↑ "Familial Thoracic Aortic Aneurysm and Dissection Syndrome (Familial TAAD) - Stanford Children's Health". https://www.stanfordchildrens.org/en/service/cardiovascular-connective-tissue/familial-taad. 
  9. ↑ "Familial Thoracic Aortic Aneurysm Dissection - UCLA Cardiovascular Genetics Clinic, Los Angeles, CA". https://www.uclahealth.org/heart/genetics/familial-thoracic-aortic-aneurysm-dissection. 



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