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Arterial dissection-lentiginosis syndrome

MedGen UID:
325345
Concept ID:
C1838122
Disease or Syndrome
Synonym: Arterial dissection with lentiginosis
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Monarch Initiative: MONDO:0010889
OMIM®: 600459
Orphanet: ORPHA1682

Definition

A rare association syndrome, reported in several members of two families to date, characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities). [from ORDO]

Clinical features

From HPO
Arterial dissection
MedGen UID:
8077
Concept ID:
C0002949
Disease or Syndrome
A separation (dissection) of the layers of an artery.
Cystic medial necrosis
MedGen UID:
1638446
Concept ID:
C4551473
Disease or Syndrome
A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells.
Multiple lentigines
MedGen UID:
272242
Concept ID:
C1328931
Disease or Syndrome
Presence of an unusually high number of lentigines (singular

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVArterial dissection-lentiginosis syndrome
Follow this link to review classifications for Arterial dissection-lentiginosis syndrome in Orphanet.

Professional guidelines

PubMed

Joglar JA, Chung MK, Armbruster AL, Benjamin EJ, Chyou JY, Cronin EM, Deswal A, Eckhardt LL, Goldberger ZD, Gopinathannair R, Gorenek B, Hess PL, Hlatky M, Hogan G, Ibeh C, Indik JH, Kido K, Kusumoto F, Link MS, Linta KT, Marcus GM, McCarthy PM, Patel N, Patton KK, Perez MV, Piccini JP, Russo AM, Sanders P, Streur MM, Thomas KL, Times S, Tisdale JE, Valente AM, Van Wagoner DR; Peer Review Committee Members
Circulation 2024 Jan 2;149(1):e1-e156. Epub 2023 Nov 30 doi: 10.1161/CIR.0000000000001193. PMID: 38033089Free PMC Article
Virani SS, Newby LK, Arnold SV, Bittner V, Brewer LC, Demeter SH, Dixon DL, Fearon WF, Hess B, Johnson HM, Kazi DS, Kolte D, Kumbhani DJ, LoFaso J, Mahtta D, Mark DB, Minissian M, Navar AM, Patel AR, Piano MR, Rodriguez F, Talbot AW, Taqueti VR, Thomas RJ, van Diepen S, Wiggins B, Williams MS; Peer Review Committee Members
Circulation 2023 Aug 29;148(9):e9-e119. Epub 2023 Jul 20 doi: 10.1161/CIR.0000000000001168. PMID: 37471501
Bhatt DL, Lopes RD, Harrington RA
JAMA 2022 Feb 15;327(7):662-675. doi: 10.1001/jama.2022.0358. PMID: 35166796

Recent clinical studies

Etiology

Sorber R, Hicks CW
Curr Cardiol Rep 2022 Mar;24(3):209-216. Epub 2022 Jan 14 doi: 10.1007/s11886-022-01642-3. PMID: 35029783Free PMC Article
Salerno A, Strambo D, Nannoni S, Dunet V, Michel P
Int J Stroke 2022 Aug;17(7):714-722. Epub 2021 Sep 28 doi: 10.1177/17474930211046758. PMID: 34581223Free PMC Article
Libby P
Cardiovasc Res 2021 Nov 22;117(13):2525-2536. doi: 10.1093/cvr/cvab303. PMID: 34550337Free PMC Article
Bossone E, Eagle KA
Nat Rev Cardiol 2021 May;18(5):331-348. Epub 2020 Dec 22 doi: 10.1038/s41569-020-00472-6. PMID: 33353985
Morello F, Santoro M, Fargion AT, Grifoni S, Nazerian P
Intern Emerg Med 2021 Jan;16(1):171-181. Epub 2020 May 1 doi: 10.1007/s11739-020-02354-8. PMID: 32358680

Diagnosis

Sorber R, Hicks CW
Curr Cardiol Rep 2022 Mar;24(3):209-216. Epub 2022 Jan 14 doi: 10.1007/s11886-022-01642-3. PMID: 35029783Free PMC Article
Salerno A, Strambo D, Nannoni S, Dunet V, Michel P
Int J Stroke 2022 Aug;17(7):714-722. Epub 2021 Sep 28 doi: 10.1177/17474930211046758. PMID: 34581223Free PMC Article
Bossone E, Eagle KA
Nat Rev Cardiol 2021 May;18(5):331-348. Epub 2020 Dec 22 doi: 10.1038/s41569-020-00472-6. PMID: 33353985
Morello F, Santoro M, Fargion AT, Grifoni S, Nazerian P
Intern Emerg Med 2021 Jan;16(1):171-181. Epub 2020 May 1 doi: 10.1007/s11739-020-02354-8. PMID: 32358680
Ducros A
Lancet Neurol 2012 Oct;11(10):906-17. doi: 10.1016/S1474-4422(12)70135-7. PMID: 22995694

Therapy

Lees CC, Romero R, Stampalija T, Dall'Asta A, DeVore GA, Prefumo F, Frusca T, Visser GHA, Hobbins JC, Baschat AA, Bilardo CM, Galan HL, Campbell S, Maulik D, Figueras F, Lee W, Unterscheider J, Valensise H, Da Silva Costa F, Salomon LJ, Poon LC, Ferrazzi E, Mari G, Rizzo G, Kingdom JC, Kiserud T, Hecher K
Am J Obstet Gynecol 2022 Mar;226(3):366-378. Epub 2022 Jan 10 doi: 10.1016/j.ajog.2021.11.1357. PMID: 35026129Free PMC Article
Rogers RK, Reece TB, Bonaca MP, Hess CN
Cardiol Clin 2021 Nov;39(4):495-503. doi: 10.1016/j.ccl.2021.06.002. PMID: 34686262
Narula N, Olin JW, Narula N
Arterioscler Thromb Vasc Biol 2020 Sep;40(9):1982-1989. Epub 2020 Jul 16 doi: 10.1161/ATVBAHA.119.312864. PMID: 32673526
Sandoval Y, Bell MR, Gulati R
Circ Cardiovasc Interv 2019 Nov;12(11):e007386. Epub 2019 Nov 1 doi: 10.1161/CIRCINTERVENTIONS.119.007386. PMID: 31672030
Plouin PF, Perdu J, La Batide-Alanore A, Boutouyrie P, Gimenez-Roqueplo AP, Jeunemaitre X
Orphanet J Rare Dis 2007 Jun 7;2:28. doi: 10.1186/1750-1172-2-28. PMID: 17555581Free PMC Article

Prognosis

Salerno A, Strambo D, Nannoni S, Dunet V, Michel P
Int J Stroke 2022 Aug;17(7):714-722. Epub 2021 Sep 28 doi: 10.1177/17474930211046758. PMID: 34581223Free PMC Article
Merla G, Brunetti-Pierri N, Piccolo P, Micale L, Loviglio MN
Circ Cardiovasc Genet 2012 Dec;5(6):692-6. doi: 10.1161/CIRCGENETICS.112.962860. PMID: 23250899
Ducros A
Lancet Neurol 2012 Oct;11(10):906-17. doi: 10.1016/S1474-4422(12)70135-7. PMID: 22995694
Hassan A, Lanzino G, Wijdicks EF, Rabinstein AA, Flemming KD
Neurocrit Care 2011 Dec;15(3):554-8. doi: 10.1007/s12028-011-9555-2. PMID: 21604080
Lastilla M
Clin Exp Hypertens 2006 Apr-May;28(3-4):205-15. doi: 10.1080/10641960600549082. PMID: 16833026

Clinical prediction guides

Narula N, Olin JW, Narula N
Arterioscler Thromb Vasc Biol 2020 Sep;40(9):1982-1989. Epub 2020 Jul 16 doi: 10.1161/ATVBAHA.119.312864. PMID: 32673526
Patel RS, Nguyen S, Lee MT, Price MD, Krause H, Truong VTT, Sandhu HK, Charlton-Ouw KM, LeMaire SA, Coselli JS, Prakash SK
Ann Vasc Surg 2020 Jul;66:318-325. Epub 2020 Jan 7 doi: 10.1016/j.avsg.2019.12.039. PMID: 31923594
Czihal M, Banafsche R, Hoffmann U, Koeppel T
Vasa 2015 Nov;44(6):419-34. doi: 10.1024/0301-1526/a000465. PMID: 26515219
Lejay A, Ohana M, Lee JT, Georg Y, Delay C, Lucereau B, Thaveau F, Gaertner S, Chakfé N; Groupe Européen de Recherche sur les Prothèses Appliquées à la Chirurgie Vasculaire (GEPROVAS)
J Cardiovasc Surg (Torino) 2014 Apr;55(2 Suppl 1):225-37. PMID: 24796917
Sinha S, Houghton J, Holt PJ, Thompson MM, Loftus IM, Hinchliffe RJ
J Vasc Surg 2012 Jan;55(1):252-262.e30. Epub 2011 Nov 23 doi: 10.1016/j.jvs.2011.08.050. PMID: 22116047

Recent systematic reviews

Girón-Ortega JA, Girón-González JA
Med Clin (Barc) 2023 Jul 21;161(2):65-77. Epub 2023 Apr 25 doi: 10.1016/j.medcli.2023.03.011. PMID: 37105842
Khairani CD, Bejjani A, Piazza G, Jimenez D, Monreal M, Chatterjee S, Pengo V, Woller SC, Cortes-Hernandez J, Connors JM, Kanthi Y, Krumholz HM, Middeldorp S, Falanga A, Cushman M, Goldhaber SZ, Garcia DA, Bikdeli B
J Am Coll Cardiol 2023 Jan 3;81(1):16-30. Epub 2022 Oct 31 doi: 10.1016/j.jacc.2022.10.008. PMID: 36328154Free PMC Article
Gouda P, Kay R, Habib M, Aziz A, Aziza E, Welsh R
Int J Cardiol 2022 Sep 1;362:158-167. Epub 2022 Jun 1 doi: 10.1016/j.ijcard.2022.05.065. PMID: 35662564
Conte MS, Bradbury AW, Kolh P, White JV, Dick F, Fitridge R, Mills JL, Ricco JB, Suresh KR, Murad MH; GVG Writing Group
J Vasc Surg 2019 Jun;69(6S):3S-125S.e40. Epub 2019 May 28 doi: 10.1016/j.jvs.2019.02.016. PMID: 31159978Free PMC Article
Terelak-Borys B, Skonieczna K, Grabska-Liberek I
Med Sci Monit 2012 Aug;18(8):RA138-144. doi: 10.12659/msm.883260. PMID: 22847215Free PMC Article

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