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Internal carotid arteries, hypoplasia of

MedGen UID:
383757
Concept ID:
C1855736
Finding
Synonym: Internal carotid artery hypoplasia
 
HPO: HP:0005290
Monarch Initiative: MONDO:0009463
OMIM®: 243100

Clinical features

From HPO
Cerebral ischemia
MedGen UID:
182975
Concept ID:
C0917798
Pathologic Function
Restriction of arterial blood supply to the brain associated with insufficient oxygenation to support the metabolic requirements of the tissue.
Internal carotid arteries, hypoplasia of
MedGen UID:
383757
Concept ID:
C1855736
Finding
Dementia
MedGen UID:
99229
Concept ID:
C0497327
Mental or Behavioral Dysfunction
A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInternal carotid arteries, hypoplasia of

Conditions with this feature

Human HOXA1 syndromes
MedGen UID:
330410
Concept ID:
C1832215
Disease or Syndrome
Homozygous loss-of-function mutations in the HOXA1 gene result in disorders with variable phenotypic expressivity that span a spectrum. Two related, but somewhat distinctive, phenotypes have been described in different populations: the Athabaskan brainstem dysgenesis syndrome (ABDS) in Native Americans, and Bosley-Salih-Alorainy syndrome (BSAS) in individuals from the Middle East, including Turkey and Saudi Arabia. Features common to both disorders include Duane retraction syndrome with variable gaze palsies, sensorineural deafness associated with inner ear abnormalities, and delayed motor development. More variable features, observed in both disorders, include conotruncal cardiac malformations, cerebral vascular malformations, and impaired intellectual development with autism. Unique to ABDS are central hypoventilation, often resulting in early death, facial weakness, and more severe cognitive deficits. These features are thought to be due to a more severe malformation of the hindbrain in ABDS compared to BSAS (summary by Tischfield et al., 2005).
Internal carotid arteries, hypoplasia of
MedGen UID:
383757
Concept ID:
C1855736
Finding

Professional guidelines

PubMed

Yaghi S, Engelter S, Del Brutto VJ, Field TS, Jadhav AP, Kicielinski K, Madsen TE, Mistry EA, Salehi Omran S, Pandey A, Raz E; American Heart Association Stroke Council; Council on Cardiovascular and Stroke Nursing; Council on Clinical Cardiology; and Council on Peripheral Vascular Disease
Stroke 2024 Mar;55(3):e91-e106. Epub 2024 Feb 1 doi: 10.1161/STR.0000000000000457. PMID: 38299330
Lv S, Yuan JT, Xie QW, Tang SX, Wang YW
Curr Med Sci 2023 Feb;43(1):173-183. Epub 2023 Mar 3 doi: 10.1007/s11596-022-2691-4. PMID: 36867361
Fusco DJ, Asteraki S, Spetzler RF
Acta Neurochir (Wien) 2012 Jul;154(7):1119-26. Epub 2012 May 26 doi: 10.1007/s00701-012-1385-2. PMID: 22638594

Recent clinical studies

Etiology

Yaghi S, Engelter S, Del Brutto VJ, Field TS, Jadhav AP, Kicielinski K, Madsen TE, Mistry EA, Salehi Omran S, Pandey A, Raz E; American Heart Association Stroke Council; Council on Cardiovascular and Stroke Nursing; Council on Clinical Cardiology; and Council on Peripheral Vascular Disease
Stroke 2024 Mar;55(3):e91-e106. Epub 2024 Feb 1 doi: 10.1161/STR.0000000000000457. PMID: 38299330
Chaudhary RK, Groskreutz D, Gupta E, Baghdadi Y, Smith S, Sapire J
Surg Radiol Anat 2023 Jun;45(6):777-786. Epub 2023 Mar 11 doi: 10.1007/s00276-023-03117-8. PMID: 36899092
Vilimas A, Gaigalaitė V, Urbonas M, Jatužis D
Medicina (Kaunas) 2022 Aug 31;58(9) doi: 10.3390/medicina58091189. PMID: 36143866Free PMC Article
Altay S
J Comput Assist Tomogr 2021 Jul-Aug 01;45(4):614-617. doi: 10.1097/RCT.0000000000001177. PMID: 34176879
Brinjikji W, Cloft HJ, Flemming KD, Comelli S, Lanzino G
J Neurosurg 2018 Jul;129(1):91-99. Epub 2017 Sep 29 doi: 10.3171/2017.2.JNS1744. PMID: 28960150

Diagnosis

Endo H, Ishikawa K, Ono H, Honjo K, Nakamura H
Surg Radiol Anat 2024 Mar;46(3):299-302. Epub 2024 Feb 5 doi: 10.1007/s00276-023-03294-6. PMID: 38316649
Vasović L, Trandafilović M, Vlajković S
Biomed Res Int 2019;2019:9896138. Epub 2019 Dec 23 doi: 10.1155/2019/9896138. PMID: 31976332Free PMC Article
Rebella G, Castaldi A, Rossi UG
Acta Neurol Taiwan 2019 Jun 15;28(2):57-58. PMID: 31867708
David J, Lieb M, Rahimi SA
J Vasc Surg 2014 Dec;60(6):1661-3. Epub 2014 Jul 31 doi: 10.1016/j.jvs.2014.05.048. PMID: 25088736
Lee JH, Oh CW, Lee SH, Han DH
Acta Neurochir (Wien) 2003 Feb;145(2):117-25; discussion 125. doi: 10.1007/s00701-002-1046-y. PMID: 12601459

Therapy

Yaghi S, Engelter S, Del Brutto VJ, Field TS, Jadhav AP, Kicielinski K, Madsen TE, Mistry EA, Salehi Omran S, Pandey A, Raz E; American Heart Association Stroke Council; Council on Cardiovascular and Stroke Nursing; Council on Clinical Cardiology; and Council on Peripheral Vascular Disease
Stroke 2024 Mar;55(3):e91-e106. Epub 2024 Feb 1 doi: 10.1161/STR.0000000000000457. PMID: 38299330
Vilimas A, Gaigalaitė V, Urbonas M, Jatužis D
Medicina (Kaunas) 2022 Aug 31;58(9) doi: 10.3390/medicina58091189. PMID: 36143866Free PMC Article
Dilba K, van Dam-Nolen DHK, Crombag GAJC, van der Kolk AG, Koudstaal PJ, Nederkoorn PJ, Hendrikse J, Kooi ME, van der Steen AFW, Wentzel JJ, van der Lugt A, Bos D
Eur J Neurol 2021 Sep;28(9):3133-3138. Epub 2021 Jul 7 doi: 10.1111/ene.14982. PMID: 34133824Free PMC Article
Heiss WD, Zaro-Weber O
Int J Stroke 2019 Jun;14(4):351-358. Epub 2019 Apr 1 doi: 10.1177/1747493019840936. PMID: 30935350
Amarenco P, Bogousslavsky J, Caplan LR, Donnan GA, Hennerici MG
Cerebrovasc Dis 2009;27(5):493-501. Epub 2009 Apr 3 doi: 10.1159/000210432. PMID: 19342825

Prognosis

Yaghi S, Engelter S, Del Brutto VJ, Field TS, Jadhav AP, Kicielinski K, Madsen TE, Mistry EA, Salehi Omran S, Pandey A, Raz E; American Heart Association Stroke Council; Council on Cardiovascular and Stroke Nursing; Council on Clinical Cardiology; and Council on Peripheral Vascular Disease
Stroke 2024 Mar;55(3):e91-e106. Epub 2024 Feb 1 doi: 10.1161/STR.0000000000000457. PMID: 38299330
Altay S
J Comput Assist Tomogr 2021 Jul-Aug 01;45(4):614-617. doi: 10.1097/RCT.0000000000001177. PMID: 34176879
Rebella G, Castaldi A, Rossi UG
Acta Neurol Taiwan 2019 Jun 15;28(2):57-58. PMID: 31867708
Hayreh SS
Eye (Lond) 2006 Oct;20(10):1130-44. doi: 10.1038/sj.eye.6702377. PMID: 17019411
Mizener JB, Podhajsky P, Hayreh SS
Ophthalmology 1997 May;104(5):859-64. doi: 10.1016/s0161-6420(97)30221-8. PMID: 9160035

Clinical prediction guides

Yaghi S, Engelter S, Del Brutto VJ, Field TS, Jadhav AP, Kicielinski K, Madsen TE, Mistry EA, Salehi Omran S, Pandey A, Raz E; American Heart Association Stroke Council; Council on Cardiovascular and Stroke Nursing; Council on Clinical Cardiology; and Council on Peripheral Vascular Disease
Stroke 2024 Mar;55(3):e91-e106. Epub 2024 Feb 1 doi: 10.1161/STR.0000000000000457. PMID: 38299330
Sangha S, Lenert A, Dawoud S, Kaur A, Yazan H, Voigt MD, Lenert P
J Clin Rheumatol 2021 Dec 1;27(8):e561-e567. doi: 10.1097/RHU.0000000000001596. PMID: 33065628
Zhang P, Wang Z, Yu FX, Lv H, Liu XH, Feng WH, Ma J, Yang ZH, Wang ZC
J Vasc Surg 2018 Oct;68(4):1054-1061. Epub 2018 May 19 doi: 10.1016/j.jvs.2018.01.043. PMID: 29789216
Mays BW, Towne JB, Seabrook GR, Cambria RA, Jean-Claude J
Arch Surg 2000 May;135(5):525-8; discussion 528-9. doi: 10.1001/archsurg.135.5.525. PMID: 10807275
Willinsky R, Lasjaunias P, Berenstein A
Surg Radiol Anat 1987;9(3):201-15. doi: 10.1007/BF02109631. PMID: 3122341

Recent systematic reviews

Chaudhary RK, Groskreutz D, Gupta E, Baghdadi Y, Smith S, Sapire J
Surg Radiol Anat 2023 Jun;45(6):777-786. Epub 2023 Mar 11 doi: 10.1007/s00276-023-03117-8. PMID: 36899092
Whitley H, Zazay A, Skalický P, Malík J, Charvát F, Beneš V, Bradáč O
Neuroradiol J 2023 Feb;36(1):5-16. Epub 2022 Jun 17 doi: 10.1177/19714009221108668. PMID: 35713190Free PMC Article
Curry SD, Christensen DN, Varman PM, Harp KA, Jones DT
Laryngoscope 2023 Mar;133(3):457-466. Epub 2022 May 13 doi: 10.1002/lary.30179. PMID: 35561004
Jansen S, Bhangu J, de Rooij S, Daams J, Kenny RA, van der Velde N
J Am Med Dir Assoc 2016 Mar 1;17(3):193-9. Epub 2015 Oct 9 doi: 10.1016/j.jamda.2015.08.022. PMID: 26455926
Hanak BW, Zada G, Nayar VV, Thiex R, Du R, Day AL, Laws ER
J Neurosurg 2012 Jan;116(1):164-78. Epub 2011 Nov 4 doi: 10.3171/2011.9.JNS11380. PMID: 22054212

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