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Cerebral cavernous malformation 1(CCM1)

MedGen UID:
237128
Concept ID:
C1366911
Disease or Syndrome
Synonyms: Cerebral cavernous malformations 1; Familial Cerebral Cavernous Malformation 1
 
Gene (location): KRIT1 (7q21.2)
 
Monarch Initiative: MONDO:0020724
OMIM®: 116860; 604214

Disease characteristics

Excerpted from the GeneReview: Familial Cerebral Cavernous Malformations
Familial cerebral cavernous malformations (FCCM) is a disorder characterized by multiple vascular lesions in the brain and spinal cord that consist of clustered, endothelial-lined caverns ranging in diameter from a few millimeters to several centimeters. Cerebral and/or spinal cavernous malformations may increase in number over time, and individual lesions may increase or decrease in size. The number of cerebral cavernous malformations (CCMs) identified in an individual ranges from one or two to hundreds of lesions (typical number 6-20 CCMs) depending on the individual's age and the quality and type of brain imaging used. Although CCMs have been reported in infants and children, the majority become evident between the second and fifth decades of life either incidentally or associated with seizures, focal neurologic deficits, headaches, and/or cerebral hemorrhage. Cutaneous vascular lesions are found in 9% and retinal vascular lesions in almost 5% of affected individuals. Up to 50% of individuals with FCCM remain symptom free throughout their lives. [from GeneReviews]
Authors:
Kelly D Flemming  |  Edward Smith  |  Douglas Marchuk, et. al.   view full author information

Additional description

From MedlinePlus Genetics
Cerebral cavernous malformations are collections of small blood vessels (capillaries) in the brain that are enlarged and irregular in structure. These capillaries have abnormally thin walls, and they lack other support tissues, such as elastic fibers, which normally make them stretchy. As a result, the blood vessels are prone to leakage, which can cause the health problems related to this condition. Cavernous malformations can occur anywhere in the body, but usually produce serious signs and symptoms only when they occur in the brain and spinal cord (which are described as cerebral).

Approximately 25 percent of individuals with cerebral cavernous malformations never experience any related health problems. Other people with this condition may experience serious signs and symptoms such as headaches, seizures, paralysis, hearing or vision loss, and bleeding in the brain (cerebral hemorrhage). Severe brain hemorrhages can result in death. The location and number of cerebral cavernous malformations determine the severity of this disorder. These malformations can change in size and number over time.

There are two forms of the condition: familial and sporadic. The familial form is passed from parent to child, and affected individuals typically have multiple cerebral cavernous malformations. The sporadic form occurs in people with no family history of the disorder. These individuals typically have only one malformation.  https://medlineplus.gov/genetics/condition/cerebral-cavernous-malformation

Professional guidelines

PubMed

Bubenikova A, Skalicky P, Benes V Jr, Benes V Sr, Bradac O
J Neurol Neurosurg Psychiatry 2022 May;93(5):475-480. Epub 2022 Mar 10 doi: 10.1136/jnnp-2021-328658. PMID: 35273070
Flemming KD
Curr Cardiol Rep 2017 Oct 18;19(12):122. doi: 10.1007/s11886-017-0931-1. PMID: 29046973
Akers A, Al-Shahi Salman R, A Awad I, Dahlem K, Flemming K, Hart B, Kim H, Jusue-Torres I, Kondziolka D, Lee C, Morrison L, Rigamonti D, Rebeiz T, Tournier-Lasserve E, Waggoner D, Whitehead K
Neurosurgery 2017 May 1;80(5):665-680. doi: 10.1093/neuros/nyx091. PMID: 28387823Free PMC Article

Recent clinical studies

Prognosis

Tsutsumi S, Ogino I, Miyajima M, Ikeda T, Shindo N, Yasumoto Y, Ito M, Arai H
J Clin Neurosci 2013 May;20(5):667-9. Epub 2013 Feb 26 doi: 10.1016/j.jocn.2012.05.041. PMID: 23485406

Clinical prediction guides

Guzeloglu-Kayisli O, Amankulor NM, Voorhees J, Luleci G, Lifton RP, Gunel M
Neurosurgery 2004 Apr;54(4):943-9; discussion 949. doi: 10.1227/01.neu.0000114512.59624.a5. PMID: 15046662
Denier C, Gasc JM, Chapon F, Domenga V, Lescoat C, Joutel A, Tournier-Lasserve E
Mech Dev 2002 Sep;117(1-2):363-7. doi: 10.1016/s0925-4773(02)00209-5. PMID: 12204286

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