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Familial cervical artery dissection

MedGen UID:
1659372
Concept ID:
C4755308
Disease or Syndrome
Synonyms: Familial CAD; familial CAD; Familial CAD (cervical artery dissection); familial cervical artery dissection; Hereditary CAD; hereditary CAD; Hereditary CAD (cervical artery dissection); Hereditary cervical artery dissection; hereditary cervical artery dissection
SNOMED CT: Familial cervical artery dissection (778061001); Hereditary cervical artery dissection (778061001); Hereditary CAD (cervical artery dissection) (778061001); Familial CAD (cervical artery dissection) (778061001)
 
Monarch Initiative: MONDO:0018212
Orphanet: ORPHA36382

Definition

A rare genetic neurological disorder with characteristics of dissection of the cervical artery in various members of a single family, presenting with variable manifestations which range from asymptomatic to the triad of ipsilateral pain in the head, neck, and face, Horner syndrome and cerebral or retinal ischemic symptoms. Headache and cerebral ischemic features are most frequently observed. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial cervical artery dissection

Professional guidelines

PubMed

Keser Z, Chiang CC, Benson JC, Pezzini A, Lanzino G
Vasc Health Risk Manag 2022;18:685-700. Epub 2022 Sep 2 doi: 10.2147/VHRM.S362844. PMID: 36082197Free PMC Article
Wein T, Lindsay MP, Côté R, Foley N, Berlingieri J, Bhogal S, Bourgoin A, Buck BH, Cox J, Davidson D, Dowlatshahi D, Douketis J, Falconer J, Field T, Gioia L, Gubitz G, Habert J, Jaspers S, Lum C, McNamara Morse D, Pageau P, Rafay M, Rodgerson A, Semchuk B, Sharma M, Shoamanesh A, Tamayo A, Smitko E, Gladstone DJ; Heart and Stroke Foundation Canadian Stroke Best Practice Committees
Int J Stroke 2018 Jun;13(4):420-443. Epub 2017 Nov 24 doi: 10.1177/1747493017743062. PMID: 29171361
Peng J, Liu Z, Luo C, Chen L, Hou X, Xiao L, Zhou Z
Biomed Res Int 2017;2017:3072098. Epub 2017 May 21 doi: 10.1155/2017/3072098. PMID: 28607929Free PMC Article

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