Familial thoracic aortic aneurysm and aortic dissection

Familial thoracic aortic aneurysm and aortic dissection
This disorder is inherited in an autosomal dominant fashion.
Specialty	Medical genetics, Cardiology
Symptoms	high frequency of thoracic aortic aneurysms and aortic dissections in the family (including oneself)
Complications	Aortic rupture
Usual onset	Adolescence to early adulthood
Duration	Life-long
Causes	Genetic mutation
Prognosis	Poor
Frequency	Not 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]

• FOXE3 (located on 1p33)
• SMAD2 (located on 18q21.1)
• LOX (located on 5q23.3-31.2)
• MAT2A (located on ???)
• ELN (located on chromosome 7)
• HEY2 (located on 6q22.31)
• TGFB3 (located on 14q24.3)
• TGFBR1 (located on 9q22.33)
• TGFBR2 (located on 3p24.1)
• FBN1 (located on 15q21.1)
• ACTA2 (located on 10q23.31
• MYLK (located on 3q21.1)
• SMAD3 (located on 15q22.33)
• PRKG1 (located on 10q11.23-q21.1)
• MFAP5 (located on 12p13.31)
• TGFB2 (located on 1q41)
• SMAD4 (located on 18q21.2)
• MYH11 (located on 16p13.11)

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".
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. PMC 4109323. PMID 25104961.
3. "Thoracic Aortic Aneurysm & Aortic Dissection".
4. Guo, Dong-Chuan; Regalado, Ellen S.; Minn, Charles; Tran-Fadulu, Van; Coney, Joshua; Cao, Jiumei; Wang, Min; Yu, Robert K.; Estrera, Anthony L.; Safi, Hazim J.; Shete, Sanjay S.; Milewicz, Dianna M. (2011). "Familial Thoracic Aortic Aneurysms and Dissections". Circulation: Cardiovascular Genetics. 4 (1): 36–42. doi:10.1161/circgenetics.110.958066. PMC 3739448. PMID 21163914.
5. "Familial thoracic aortic aneurysm and dissection: MedlinePlus Genetics".
6. "Familial thoracic aortic aneurysm and aortic dissection - About the Disease - Genetic and Rare Diseases Information Center".
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. PMC 2958900. PMID 20937124.
8. "Familial Thoracic Aortic Aneurysm and Dissection Syndrome (Familial TAAD) - Stanford Children's Health".
9. "Familial Thoracic Aortic Aneurysm Dissection - UCLA Cardiovascular Genetics Clinic, Los Angeles, CA".