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Descending aortic dissection

MedGen UID:
868484
Concept ID:
C4022878
Disease or Syndrome
Synonym: Type B aortic dissection
 
HPO: HP:0012499

Definition

A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Descending aortic dissection

Conditions with this feature

Ehlers-Danlos syndrome, type 4
MedGen UID:
82790
Concept ID:
C0268338
Disease or Syndrome
Vascular Ehlers-Danlos syndrome (vEDS) is characterized by arterial, intestinal, and/or uterine fragility; thin, translucent skin; easy bruising; characteristic facial appearance (thin vermilion of the lips, micrognathia, narrow nose, prominent eyes); and an aged appearance to the extremities, particularly the hands. Vascular dissection or rupture, gastrointestinal perforation, or organ rupture are the presenting signs in most adults with vEDS. Arterial rupture may be preceded by aneurysm, arteriovenous fistulae, or dissection but also may occur spontaneously. The majority (60%) of individuals with vEDS who are diagnosed before age 18 years are identified because of a positive family history. Neonates may present with clubfoot, hip dislocation, limb deficiency, and/or amniotic bands. Approximately half of children tested for vEDS in the absence of a positive family history present with a major complication at an average age of 11 years. Four minor diagnostic features – distal joint hypermobility, easy bruising, thin skin, and clubfeet – are most often present in those children ascertained without a major complication.
Aortic aneurysm, familial thoracic 4
MedGen UID:
338704
Concept ID:
C1851504
Disease or Syndrome
Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MYH11 gene.
Aortic aneurysm, familial thoracic 6
MedGen UID:
435866
Concept ID:
C2673186
Disease or Syndrome
Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene.
Loeys-Dietz syndrome 2
MedGen UID:
382398
Concept ID:
C2674574
Disease or Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.
Aortic aneurysm, familial thoracic 7
MedGen UID:
462427
Concept ID:
C3151077
Disease or Syndrome
Aneurysm-osteoarthritis syndrome
MedGen UID:
462437
Concept ID:
C3151087
Disease or Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.
Aortic aneurysm, familial thoracic 8
MedGen UID:
815843
Concept ID:
C3809513
Disease or Syndrome
Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the PRKG1 gene.
Aortic aneurysm, familial thoracic 11, susceptibility to
MedGen UID:
1377970
Concept ID:
C4479235
Finding
Neuronopathy, distal hereditary motor, autosomal dominant 10
MedGen UID:
1824007
Concept ID:
C5774234
Disease or Syndrome
Autosomal dominant distal hereditary motor neuronopathy-10 (HMND10) is a neurologic disorder of the peripheral nerves characterized clinically by length-dependent motor neuropathy primarily affecting the lower limbs. Affected individuals have onset of distal muscle weakness and atrophy in early childhood that results in walking difficulties and gait abnormalities. Some have pyramidal signs, including hyperreflexia, suggesting the involvement of upper motor neurons. Electrophysiologic studies are consistent with a neurogenic process. More variable features may include mild intellectual disability, minor gyration defects on brain imaging, foot deformities, and connective tissue defects (1 family) (Capuano et al., 2016; Iacomino et al., 2020). For a discussion of genetic heterogeneity of autosomal dominant distal HMN, see HMND1 (182960).

Professional guidelines

PubMed

Sandridge L, Kern JA
Semin Thorac Cardiovasc Surg 2005 Fall;17(3):256-61. doi: 10.1053/j.semtcvs.2005.06.003. PMID: 16253830
Elefteriades JA, Lovoulos CJ, Coady MA, Tellides G, Kopf GS, Rizzo JA
Ann Thorac Surg 1999 Jun;67(6):2002-5; discussion 2014-9. doi: 10.1016/s0003-4975(99)00428-2. PMID: 10391358
Orend KH, Liewald F, Kirchdorfer B, Sunder-Plassmann L
Ann Ital Chir 1995 Nov-Dec;66(6):821-4. PMID: 8712597

Recent clinical studies

Etiology

Ruiz-Muñoz A, Guala A, Dux-Santoy L, Teixidó-Turà G, Valente F, Garrido-Oliver J, Galian-Gay L, Gutiérrez L, Fernandez-Galera R, Casas-Masnou G, González-Alujas T, Cuéllar-Calabria H, Carrasco-Poves A, Morales-Galán A, Johnson KM, Wieben O, Ferreira-González I, Evangelista A, Rodriguez-Palomares J
Eur Radiol 2024 Aug;34(8):5190-5200. Epub 2024 Jan 6 doi: 10.1007/s00330-023-10513-6. PMID: 38183450
Berezowski M, Scheumann J, Beyersdorf F, Jasinski M, Plonek T, Siepe M, Czerny M, Rylski B
Interact Cardiovasc Thorac Surg 2022 May 2;34(5):857-864. doi: 10.1093/icvts/ivab351. PMID: 35043199Free PMC Article
Lin PH, Huynh TT, Kougias P, Huh J, LeMaire SA, Coselli JS
Vasc Endovascular Surg 2009 Feb-Mar;43(1):5-24. Epub 2008 Jun 25 doi: 10.1177/1538574408318475. PMID: 18583304
Elefteriades JA, Lovoulos CJ, Coady MA, Tellides G, Kopf GS, Rizzo JA
Ann Thorac Surg 1999 Jun;67(6):2002-5; discussion 2014-9. doi: 10.1016/s0003-4975(99)00428-2. PMID: 10391358
Elefteriades JA, Hammond GL, Gusberg RJ, Kopf GS, Baldwin JC
Arch Surg 1990 Jun;125(6):786-90. doi: 10.1001/archsurg.1990.01410180112018. PMID: 2346378

Diagnosis

Kletzer J, Berger T, Domin P, Schlett CL, Kondov S, Fagu A, Eschenhagen M, Czerny M, Rylski B, Kreibich M
Ann Vasc Surg 2024 Dec;109:485-493. Epub 2024 Aug 3 doi: 10.1016/j.avsg.2024.07.100. PMID: 39098724
Berezowski M, Kosiorowska K, Beyersdorf F, Riesterer T, Jasinski M, Plonek T, Siepe M, Czerny M, Rylski B
Interact Cardiovasc Thorac Surg 2019 Jul 1;29(1):124-129. doi: 10.1093/icvts/ivz028. PMID: 30824933
Lin PH, Huynh TT, Kougias P, Huh J, LeMaire SA, Coselli JS
Vasc Endovascular Surg 2009 Feb-Mar;43(1):5-24. Epub 2008 Jun 25 doi: 10.1177/1538574408318475. PMID: 18583304
Sandridge L, Kern JA
Semin Thorac Cardiovasc Surg 2005 Fall;17(3):256-61. doi: 10.1053/j.semtcvs.2005.06.003. PMID: 16253830
Elefteriades JA, Lovoulos CJ, Coady MA, Tellides G, Kopf GS, Rizzo JA
Ann Thorac Surg 1999 Jun;67(6):2002-5; discussion 2014-9. doi: 10.1016/s0003-4975(99)00428-2. PMID: 10391358

Therapy

Kletzer J, Berger T, Domin P, Schlett CL, Kondov S, Fagu A, Eschenhagen M, Czerny M, Rylski B, Kreibich M
Ann Vasc Surg 2024 Dec;109:485-493. Epub 2024 Aug 3 doi: 10.1016/j.avsg.2024.07.100. PMID: 39098724
Sharafuddin MJ, Reece TB, Papia G, Pozeg ZI, Peterson BG, Shafi B, Man J, Milner R
Vascular 2019 Dec;27(6):585-594. Epub 2019 May 8 doi: 10.1177/1708538119847394. PMID: 31067206
Nagasawa A, Shirai S, Hanyu M, Arai Y, Kamioka N, Hayashi M
Cardiovasc Interv Ther 2016 Apr;31(2):122-7. Epub 2015 Feb 25 doi: 10.1007/s12928-015-0324-6. PMID: 25711732
Therasse E, Soulez G, Giroux MF, Perreault P, Bouchard L, Blair JF, Beaudoin N, Benko A, Oliva VL
Radiographics 2005 Jan-Feb;25(1):157-73. doi: 10.1148/rg.251045046. PMID: 15653593
Glower DD, Fann JI, Speier RH, Morrison L, White WD, Smith LR, Rankin JS, Miller DC, Wolfe WG
Circulation 1990 Nov;82(5 Suppl):IV39-46. PMID: 1977532

Prognosis

Kletzer J, Berger T, Domin P, Schlett CL, Kondov S, Fagu A, Eschenhagen M, Czerny M, Rylski B, Kreibich M
Ann Vasc Surg 2024 Dec;109:485-493. Epub 2024 Aug 3 doi: 10.1016/j.avsg.2024.07.100. PMID: 39098724
Berezowski M, Kosiorowska K, Beyersdorf F, Riesterer T, Jasinski M, Plonek T, Siepe M, Czerny M, Rylski B
Interact Cardiovasc Thorac Surg 2019 Jul 1;29(1):124-129. doi: 10.1093/icvts/ivz028. PMID: 30824933
Elefteriades JA, Lovoulos CJ, Coady MA, Tellides G, Kopf GS, Rizzo JA
Ann Thorac Surg 1999 Jun;67(6):2002-5; discussion 2014-9. doi: 10.1016/s0003-4975(99)00428-2. PMID: 10391358
Elefteriades JA, Hammond GL, Gusberg RJ, Kopf GS, Baldwin JC
Arch Surg 1990 Jun;125(6):786-90. doi: 10.1001/archsurg.1990.01410180112018. PMID: 2346378
Glower DD, Fann JI, Speier RH, Morrison L, White WD, Smith LR, Rankin JS, Miller DC, Wolfe WG
Circulation 1990 Nov;82(5 Suppl):IV39-46. PMID: 1977532

Clinical prediction guides

Kletzer J, Berger T, Domin P, Schlett CL, Kondov S, Fagu A, Eschenhagen M, Czerny M, Rylski B, Kreibich M
Ann Vasc Surg 2024 Dec;109:485-493. Epub 2024 Aug 3 doi: 10.1016/j.avsg.2024.07.100. PMID: 39098724
Berezowski M, Scheumann J, Beyersdorf F, Jasinski M, Plonek T, Siepe M, Czerny M, Rylski B
Interact Cardiovasc Thorac Surg 2022 May 2;34(5):857-864. doi: 10.1093/icvts/ivab351. PMID: 35043199Free PMC Article
Berkarda Z, Kondov S, Kreibich M, Czerny M, Beyersdorf F, Rylski B
Eur J Vasc Endovasc Surg 2020 Jun;59(6):939-945. Epub 2020 Mar 3 doi: 10.1016/j.ejvs.2020.02.007. PMID: 32143991
Berezowski M, Kosiorowska K, Beyersdorf F, Riesterer T, Jasinski M, Plonek T, Siepe M, Czerny M, Rylski B
Interact Cardiovasc Thorac Surg 2019 Jul 1;29(1):124-129. doi: 10.1093/icvts/ivz028. PMID: 30824933
Glower DD, Fann JI, Speier RH, Morrison L, White WD, Smith LR, Rankin JS, Miller DC, Wolfe WG
Circulation 1990 Nov;82(5 Suppl):IV39-46. PMID: 1977532

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