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Hereditary cavernous hemangioma of brain

MedGen UID:
419031
Concept ID:
C2931263
Neoplastic Process
Synonym: Famililal cerebral cavernous malformations
SNOMED CT: Hereditary cavernous hemangioma of brain (717003001); Familial cerebral cavernous malformation (717003001)
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.
 
Related genes: CCM2, PDCD10, PIK3CA, KRIT1
 
Monarch Initiative: MONDO:0031037
OMIM® Phenotypic series: PS116860
Orphanet: ORPHA221061

Definition

A rare evolutive vascular malformation disorder characterised by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral haemorrhages. To date, mutations in three genes have been demonstrated; KRIT1, CCM2 and PDCD10, located on chromosome 7q21.2, 7p13, and 3q26.1 respectively, which encode proteins that, among their various functions, modulate junction formation between vascular endothelial cells. Transmitted as an autosomal dominant trait with incomplete penetrance. [from SNOMEDCT_US]

Professional guidelines

PubMed

Gibson CC, Zhu W, Davis CT, Bowman-Kirigin JA, Chan AC, Ling J, Walker AE, Goitre L, Delle Monache S, Retta SF, Shiu YT, Grossmann AH, Thomas KR, Donato AJ, Lesniewski LA, Whitehead KJ, Li DY
Circulation 2015 Jan 20;131(3):289-99. Epub 2014 Dec 8 doi: 10.1161/CIRCULATIONAHA.114.010403. PMID: 25486933Free PMC Article

Recent clinical studies

Etiology

Hart BL, Mabray MC, Morrison L, Whitehead KJ, Kim H
Clin Imaging 2021 Jul;75:55-66. Epub 2021 Jan 20 doi: 10.1016/j.clinimag.2021.01.020. PMID: 33493737Free PMC Article
Goyal P, Mangla R, Gupta S, Malhotra A, Almast J, Sapire J, Kolar B
J Neuroimaging 2019 Mar;29(2):165-181. Epub 2018 Oct 31 doi: 10.1111/jon.12575. PMID: 30378722
Cunha SI, Magnusson PU, Dejana E, Lampugnani MG
Circ Res 2017 Sep 29;121(8):981-999. doi: 10.1161/CIRCRESAHA.117.309930. PMID: 28963191
Cigoli MS, Avemaria F, De Benedetti S, Gesu GP, Accorsi LG, Parmigiani S, Corona MF, Capra V, Mosca A, Giovannini S, Notturno F, Ciccocioppo F, Volpi L, Estienne M, De Michele G, Antenora A, Bilo L, Tavoni A, Zamponi N, Alfei E, Baranello G, Riva D, Penco S
PLoS One 2014;9(10):e110438. Epub 2014 Oct 29 doi: 10.1371/journal.pone.0110438. PMID: 25354366Free PMC Article
Leblanc GG, Golanov E, Awad IA, Young WL; Biology of Vascular Malformations of the Brain NINDS Workshop Collaborators
Stroke 2009 Dec;40(12):e694-702. Epub 2009 Oct 15 doi: 10.1161/STROKEAHA.109.563692. PMID: 19834013Free PMC Article

Diagnosis

Hart BL, Mabray MC, Morrison L, Whitehead KJ, Kim H
Clin Imaging 2021 Jul;75:55-66. Epub 2021 Jan 20 doi: 10.1016/j.clinimag.2021.01.020. PMID: 33493737Free PMC Article
Cunha SI, Magnusson PU, Dejana E, Lampugnani MG
Circ Res 2017 Sep 29;121(8):981-999. doi: 10.1161/CIRCRESAHA.117.309930. PMID: 28963191
Panciani PP, Agnoletti A, Fornaro R, Fontanella M, Ducati A
Turk Neurosurg 2012;22(6):671-4. doi: 10.5137/1019-5149.JTN.4107-11.2. PMID: 23208895
Vanaman MJ, Hervey-Jumper SL, Maher CO
Neurosurg Clin N Am 2010 Jul;21(3):427-41. doi: 10.1016/j.nec.2010.03.001. PMID: 20561493
Labauge P, Laberge S, Brunereau L, Levy C, Tournier-Lasserve E
Lancet 1998 Dec 12;352(9144):1892-7. doi: 10.1016/s0140-6736(98)03011-6. PMID: 9863787

Therapy

Gibson CC, Zhu W, Davis CT, Bowman-Kirigin JA, Chan AC, Ling J, Walker AE, Goitre L, Delle Monache S, Retta SF, Shiu YT, Grossmann AH, Thomas KR, Donato AJ, Lesniewski LA, Whitehead KJ, Li DY
Circulation 2015 Jan 20;131(3):289-99. Epub 2014 Dec 8 doi: 10.1161/CIRCULATIONAHA.114.010403. PMID: 25486933Free PMC Article
Picard L, Robert J, André JM, Montaut J, Roland J, Sigiel M, Gengler L, Lepoire J
J Neuroradiol 1976 Mar;3(1):53-74. PMID: 1027908

Prognosis

Geng L, Jiang T, Zhu Y, Wang Q, Yuan W, Hu X, Zou Y, Xiao H, Liu H
Neurol Sci 2022 Nov;43(11):6389-6397. Epub 2022 Aug 19 doi: 10.1007/s10072-022-06323-1. PMID: 35986120
Goyal P, Mangla R, Gupta S, Malhotra A, Almast J, Sapire J, Kolar B
J Neuroimaging 2019 Mar;29(2):165-181. Epub 2018 Oct 31 doi: 10.1111/jon.12575. PMID: 30378722
Belousova OB, Okishev DN, Ignatova TM, Balashova MS, Boulygina ES
World Neurosurg 2017 Sep;105:1034.e1-1034.e6. Epub 2017 Jun 8 doi: 10.1016/j.wneu.2017.06.002. PMID: 28602929
Tsutsumi S, Ogino I, Miyajima M, Arai H, Ito M, Yasumoto Y
J Neurol Sci 2016 Aug 15;367:335-41. Epub 2016 Jun 15 doi: 10.1016/j.jns.2016.06.012. PMID: 27423615

Clinical prediction guides

Geng L, Jiang T, Zhu Y, Wang Q, Yuan W, Hu X, Zou Y, Xiao H, Liu H
Neurol Sci 2022 Nov;43(11):6389-6397. Epub 2022 Aug 19 doi: 10.1007/s10072-022-06323-1. PMID: 35986120
Shiran SI, Ben-Sira L, Elhasid R, Roth J, Tabori U, Yalon M, Constantini S, Dvir R
AJNR Am J Neuroradiol 2018 Oct;39(10):1943-1946. Epub 2018 Aug 30 doi: 10.3174/ajnr.A5766. PMID: 30166433Free PMC Article
Whitehead KJ, Smith MC, Li DY
Cold Spring Harb Perspect Med 2013 Feb 1;3(2):a006635. doi: 10.1101/cshperspect.a006635. PMID: 23125071Free PMC Article
Panciani PP, Agnoletti A, Fornaro R, Fontanella M, Ducati A
Turk Neurosurg 2012;22(6):671-4. doi: 10.5137/1019-5149.JTN.4107-11.2. PMID: 23208895
Denier C, Labauge P, Brunereau L, Cavé-Riant F, Marchelli F, Arnoult M, Cecillon M, Maciazek J, Joutel A, Tournier-Lasserve E; Sociéte Française de Neurochirgurgie; Sociéte de Neurochirurgie de Langue Française
Ann Neurol 2004 Feb;55(2):213-20. doi: 10.1002/ana.10804. PMID: 14755725

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