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Familial thoracic aortic aneurysm and aortic dissection(TAAD)

MedGen UID:
1644766
Concept ID:
C4707243
Disease or Syndrome
Synonyms: TAAD; Thoracic aortic aneurysm and aortic dissection; Thoracic aortic aneurysms and dissections
SNOMED CT: Familial TAAD (thoracic aortic aneurysm aortic dissection) (764965000); Familial thoracic aortic aneurysm and aortic dissection (764965000)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Genes (locations): ACTA2 (10q23.31); FBN1 (15q21.1); MYH11 (16p13.11); MYLK (3q21.1); SMAD3 (15q22.33); TGFBR1 (9q22.33); TGFBR2 (3p24.1)
Related genes: MFAP5, PRKG1, LOX
 
Monarch Initiative: MONDO:0019625
OMIM® Phenotypic series: PS607086
Orphanet: ORPHA91387

Definition

Familial thoracic aortic aneurysm and dissection (familial TAAD) involves problems with the aorta, which is the large blood vessel that distributes blood from the heart to the rest of the body. Familial TAAD affects the upper part of the aorta, near the heart. This part of the aorta is called the thoracic aorta because it is located in the chest (thorax). Other vessels that carry blood from the heart to the rest of the body (arteries) can also be affected.

In familial TAAD, the aorta can become weakened and stretched (aortic dilatation), which can lead to a bulge in the blood vessel wall (an aneurysm). Aortic dilatation may also lead to a sudden tearing of the layers in the aorta wall (aortic dissection), allowing blood to flow abnormally between the layers. These aortic abnormalities are potentially life-threatening because they can decrease blood flow to other parts of the body such as the brain or other vital organs, or cause the aorta to break open (rupture).

The occurrence and timing of these aortic abnormalities vary, even within the same affected family. They can begin in childhood or not occur until late in life. Aortic dilatation is generally the first feature of familial TAAD to develop, although in some affected individuals dissection occurs with little or no aortic dilatation.

Aortic aneurysms usually have no symptoms. However, depending on the size, growth rate, and location of these abnormalities, they can cause pain in the jaw, neck, chest, or back; swelling in the arms, neck, or head; difficult or painful swallowing; hoarseness; shortness of breath; wheezing; a chronic cough; or coughing up blood. Aortic dissections usually cause severe, sudden chest or back pain, and may also result in unusually pale skin (pallor), a very faint pulse, numbness or tingling (paresthesias) in one or more limbs, or paralysis.

Familial TAAD may not be associated with other signs and symptoms. However, some individuals in affected families show mild features of related conditions called Marfan syndrome or Loeys-Dietz syndrome. These features include tall stature, stretch marks on the skin, an unusually large range of joint movement (joint hypermobility), and either a sunken or protruding chest. Occasionally, people with familial TAAD develop aneurysms in the brain or in the section of the aorta located in the abdomen (abdominal aorta). Some people with familial TAAD have heart abnormalities that are present from birth (congenital). Affected individuals may also have a soft out-pouching in the lower abdomen (inguinal hernia), an abnormal curvature of the spine (scoliosis), or a purplish skin discoloration (livedo reticularis) caused by abnormalities in the tiny blood vessels of the skin (dermal capillaries). However, these conditions are also common in the general population. Depending on the genetic cause of familial TAAD in particular families, they may have an increased risk of developing blockages in smaller arteries, which can lead to heart attack and stroke. [from MedlinePlus Genetics]

Professional guidelines

PubMed

Caruana M, Baars MJ, Bashiardes E, Benke K, Björck E, Codreanu A, de Moya Rubio E, Dumfarth J, Evangelista A, Groenink M, Kallenbach K, Kempers M, Keravnou A, Loeys B, Muiño-Mosquera L, Nagy E, Milleron O, Nistri S, Pepe G, Roos-Hesselink J, Szabolcs Z, Teixidó-Tura G, Timmermans J, Van de Laar I, van Kimmenade R, Verstraeten A, Von Kodolitsch Y, De Backer J, Jondeau G
Eur J Med Genet 2023 Jan;66(1):104673. Epub 2022 Nov 29 doi: 10.1016/j.ejmg.2022.104673. PMID: 36460281
Yamaguchi T, Hayashi S, Hayashi D, Matsuyama T, Koitabashi N, Ogiwara K, Noda M, Nakada C, Fujiki S, Furutachi A, Tanabe Y, Yamanaka M, Ishikawa A, Mizukami M, Mizuguchi A, Sugiura K, Sumi M, Yamazawa H, Izawa A, Wada Y, Fujikawa T, Takiguchi Y, Wakui K, Takano K, Nishio SY, Kosho T
Am J Med Genet A 2023 Jan;191(1):37-51. Epub 2022 Oct 3 doi: 10.1002/ajmg.a.62982. PMID: 36189931Free PMC Article
Cecchi AC, Boerio ML, Marin I, Pinard A, Milewicz DM
J Am Heart Assoc 2022 Apr 19;11(8):e025441. Epub 2022 Apr 6 doi: 10.1161/JAHA.122.025441. PMID: 35383462Free PMC Article

Recent clinical studies

Etiology

Caruana M, Baars MJ, Bashiardes E, Benke K, Björck E, Codreanu A, de Moya Rubio E, Dumfarth J, Evangelista A, Groenink M, Kallenbach K, Kempers M, Keravnou A, Loeys B, Muiño-Mosquera L, Nagy E, Milleron O, Nistri S, Pepe G, Roos-Hesselink J, Szabolcs Z, Teixidó-Tura G, Timmermans J, Van de Laar I, van Kimmenade R, Verstraeten A, Von Kodolitsch Y, De Backer J, Jondeau G
Eur J Med Genet 2023 Jan;66(1):104673. Epub 2022 Nov 29 doi: 10.1016/j.ejmg.2022.104673. PMID: 36460281
Creamer TJ, Bramel EE, MacFarlane EG
Genes (Basel) 2021 Jan 27;12(2) doi: 10.3390/genes12020183. PMID: 33514025Free PMC Article
Braverman AC, Mittauer E, Harris KM, Evangelista A, Pyeritz RE, Brinster D, Conklin L, Suzuki T, Fanola C, Ouzounian M, Chen E, Myrmel T, Bekeredjian R, Hutchison S, Coselli J, Gilon D, O'Gara P, Davis M, Isselbacher E, Eagle K
JAMA Cardiol 2021 Jan 1;6(1):58-66. doi: 10.1001/jamacardio.2020.4876. PMID: 33052376Free PMC Article
Loeper F, Oosterhof J, van den Dorpel M, van der Linde D, Lu Y, Robertson E, Hambly B, Jeremy R
J Am Heart Assoc 2016 Nov 16;5(11) doi: 10.1161/JAHA.116.003705. PMID: 27852591Free PMC Article
Halper J
Adv Exp Med Biol 2014;802:49-58. doi: 10.1007/978-94-007-7893-1_4. PMID: 24443020

Diagnosis

Krywanczyk A, Rodriguez ER, Tan CD, Gilson T
Am J Forensic Med Pathol 2023 Jun 1;44(2):69-76. Epub 2023 Mar 3 doi: 10.1097/PAF.0000000000000819. PMID: 36877084
Caruana M, Baars MJ, Bashiardes E, Benke K, Björck E, Codreanu A, de Moya Rubio E, Dumfarth J, Evangelista A, Groenink M, Kallenbach K, Kempers M, Keravnou A, Loeys B, Muiño-Mosquera L, Nagy E, Milleron O, Nistri S, Pepe G, Roos-Hesselink J, Szabolcs Z, Teixidó-Tura G, Timmermans J, Van de Laar I, van Kimmenade R, Verstraeten A, Von Kodolitsch Y, De Backer J, Jondeau G
Eur J Med Genet 2023 Jan;66(1):104673. Epub 2022 Nov 29 doi: 10.1016/j.ejmg.2022.104673. PMID: 36460281
Velchev JD, Van Laer L, Luyckx I, Dietz H, Loeys B
Adv Exp Med Biol 2021;1348:251-264. doi: 10.1007/978-3-030-80614-9_11. PMID: 34807423
Braverman AC, Mittauer E, Harris KM, Evangelista A, Pyeritz RE, Brinster D, Conklin L, Suzuki T, Fanola C, Ouzounian M, Chen E, Myrmel T, Bekeredjian R, Hutchison S, Coselli J, Gilon D, O'Gara P, Davis M, Isselbacher E, Eagle K
JAMA Cardiol 2021 Jan 1;6(1):58-66. doi: 10.1001/jamacardio.2020.4876. PMID: 33052376Free PMC Article
Forsey JT, Elmasry OA, Martin RP
Orphanet J Rare Dis 2009 Jul 10;4:17. doi: 10.1186/1750-1172-4-17. PMID: 19591690Free PMC Article

Therapy

Mason EK, Gak AE, Finno JG, Cannon RD, Jacoby JL
J Emerg Med 2019 Aug;57(2):235-237. Epub 2019 May 22 doi: 10.1016/j.jemermed.2019.03.034. PMID: 31126675
Loeper F, Oosterhof J, van den Dorpel M, van der Linde D, Lu Y, Robertson E, Hambly B, Jeremy R
J Am Heart Assoc 2016 Nov 16;5(11) doi: 10.1161/JAHA.116.003705. PMID: 27852591Free PMC Article
Liao KM, Chen CY, Wang SH, Huang JW, Kuo CC, Huang YB
Biomed Res Int 2016;2016:5173898. Epub 2016 Aug 1 doi: 10.1155/2016/5173898. PMID: 27563668Free PMC Article
Martín-Alonso M, García-Redondo AB, Guo D, Camafeita E, Martínez F, Alfranca A, Méndez-Barbero N, Pollán Á, Sánchez-Camacho C, Denhardt DT, Seiki M, Vázquez J, Salaices M, Redondo JM, Milewicz D, Arroyo AG
Circ Res 2015 Jul 3;117(2):e13-26. Epub 2015 May 11 doi: 10.1161/CIRCRESAHA.117.305108. PMID: 25963716
Joo HC, Chang BC, Youn YN, Yoo KJ, Lee S
Yonsei Med J 2012 Sep;53(5):915-23. doi: 10.3349/ymj.2012.53.5.915. PMID: 22869473Free PMC Article

Prognosis

Braverman AC, Mittauer E, Harris KM, Evangelista A, Pyeritz RE, Brinster D, Conklin L, Suzuki T, Fanola C, Ouzounian M, Chen E, Myrmel T, Bekeredjian R, Hutchison S, Coselli J, Gilon D, O'Gara P, Davis M, Isselbacher E, Eagle K
JAMA Cardiol 2021 Jan 1;6(1):58-66. doi: 10.1001/jamacardio.2020.4876. PMID: 33052376Free PMC Article
Baglivo M, Dassati S, Krasi G, Fanelli F, Kurti D, Bonelli A, Arabia G, Fabbicatore D, Muneretto C, Bertelli M
Acta Biomed 2019 Sep 30;90(10-S):53-57. doi: 10.23750/abm.v90i10-S.8760. PMID: 31577255Free PMC Article
D'Souza RS, Slavov D, Graw S, Jirikowic J, Todd E, Rogers RK, Taylor MR
Int Angiol 2017 Oct;36(5):417-427. Epub 2017 Jan 31 doi: 10.23736/S0392-9590.17.03757-9. PMID: 28139901
Loeper F, Oosterhof J, van den Dorpel M, van der Linde D, Lu Y, Robertson E, Hambly B, Jeremy R
J Am Heart Assoc 2016 Nov 16;5(11) doi: 10.1161/JAHA.116.003705. PMID: 27852591Free PMC Article
Forsey JT, Elmasry OA, Martin RP
Orphanet J Rare Dis 2009 Jul 10;4:17. doi: 10.1186/1750-1172-4-17. PMID: 19591690Free PMC Article

Clinical prediction guides

Caruana M, Baars MJ, Bashiardes E, Benke K, Björck E, Codreanu A, de Moya Rubio E, Dumfarth J, Evangelista A, Groenink M, Kallenbach K, Kempers M, Keravnou A, Loeys B, Muiño-Mosquera L, Nagy E, Milleron O, Nistri S, Pepe G, Roos-Hesselink J, Szabolcs Z, Teixidó-Tura G, Timmermans J, Van de Laar I, van Kimmenade R, Verstraeten A, Von Kodolitsch Y, De Backer J, Jondeau G
Eur J Med Genet 2023 Jan;66(1):104673. Epub 2022 Nov 29 doi: 10.1016/j.ejmg.2022.104673. PMID: 36460281
Benke K, Ágg B, Pólos M, Sayour AA, Radovits T, Bartha E, Nagy P, Rákóczi B, Koller Á, Szokolai V, Hedberg J, Merkely B, Nagy ZB, Szabolcs Z
BMC Psychiatry 2017 Jul 17;17(1):253. doi: 10.1186/s12888-017-1417-9. PMID: 28716062Free PMC Article
Chou AS, Ma WG, Mok SC, Ziganshin BA, Peterss S, Rizzo JA, Tranquilli M, Elefteriades JA
Ann Thorac Surg 2017 Feb;103(2):546-550. Epub 2016 Aug 25 doi: 10.1016/j.athoracsur.2016.06.007. PMID: 27570161
Dong SB, Zheng J, Ma WG, Chen MJ, Cheng LJ, He L, Xing QH, Sun LZ
Ann Vasc Surg 2014 Nov;28(8):1909-12. Epub 2014 Aug 7 doi: 10.1016/j.avsg.2014.07.013. PMID: 25110237
Khau Van Kien P, Wolf JE, Mathieu F, Zhu L, Salve N, Lalande A, Bonnet C, Lesca G, Plauchu H, Dellinger A, Nivelon-Chevallier A, Brunotte F, Jeunemaitre X
Eur J Hum Genet 2004 Mar;12(3):173-80. doi: 10.1038/sj.ejhg.5201119. PMID: 14722581

Recent systematic reviews

Mariscalco G, Debiec R, Elefteriades JA, Samani NJ, Murphy GJ
J Am Heart Assoc 2018 Aug 7;7(15):e009302. doi: 10.1161/JAHA.118.009302. PMID: 30371227Free PMC Article

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