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Cerebral cavernous malformation 2(CCM2)

MedGen UID:
400438
Concept ID:
C1864041
Disease or Syndrome
Synonyms: Cerebral cavernous malformations 2; Familial Cerebral Cavernous Malformation 2
 
Gene (location): CCM2 (7p13)
 
Monarch Initiative: MONDO:0011304
OMIM®: 603284

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 descriptions

From OMIM
Cerebral cavernous malformations are vascular malformations, mostly located within the CNS, characterized by abnormally enlarged capillary cavities without intervening brain parenchyma. CCMs usually present clinically during the third to fifth decade of life, resulting in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits (summary by Denier et al., 2004). For a discussion of genetic heterogeneity of cerebral cavernous malformations, see CCM1 (116860).  http://www.omim.org/entry/603284
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

Clinical features

From HPO
Stroke disorder
MedGen UID:
52522
Concept ID:
C0038454
Disease or Syndrome
Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.
Cerebral cavernous malformation
MedGen UID:
418825
Concept ID:
C2919945
Congenital Abnormality
Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord comprising closely clustered, enlarged capillary channels (caverns) with a single layer of endothelium without mature vessel wall elements or normal intervening brain parenchyma. The diameter of CCMs ranges from a few millimeters to several centimeters. CCMs increase or decrease in size and increase in number over time. Hundreds of lesions may be identified, depending on the person'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 with findings such as seizures, focal neurologic deficits, nonspecific headaches, and cerebral hemorrhage. Up to 50% of individuals with FCCM remain symptom free throughout their lives. Cutaneous vascular lesions are found in 9% of those with familial cerebral cavernous malformations (FCCM; see Diagnosis/testing) and retinal vascular lesions in almost 5%.
Cerebral hemorrhage
MedGen UID:
423648
Concept ID:
C2937358
Pathologic Function
Hemorrhage into the parenchyma of the brain.
Headache
MedGen UID:
9149
Concept ID:
C0018681
Sign or Symptom
Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Telangiectasia
MedGen UID:
21088
Concept ID:
C0039446
Finding
Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips.

Professional guidelines

PubMed

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
Gross BA, Du R
Expert Rev Neurother 2015;15(7):771-7. Epub 2015 Jun 22 doi: 10.1586/14737175.2015.1055323. PMID: 26098013

Recent clinical studies

Etiology

Wang X, Ding J, Wang D
Acta Crystallogr Sect F Struct Biol Cryst Commun 2012 Jun 1;68(Pt 6):683-6. Epub 2012 May 23 doi: 10.1107/S1744309112016181. PMID: 22684070Free PMC Article

Diagnosis

Khan MJ, Dinkin M, D'Amico DJ
JAMA Ophthalmol 2021 Mar 1;139(3):e204104. Epub 2021 Mar 17 doi: 10.1001/jamaophthalmol.2020.4104. PMID: 33729445
Abou-Fadel J, Qu Y, Gonzalez EM, Smith M, Zhang J
Oncol Rep 2020 Jun;43(6):1945-1963. Epub 2020 Mar 18 doi: 10.3892/or.2020.7550. PMID: 32186778Free PMC Article

Prognosis

Abou-Fadel J, Qu Y, Gonzalez EM, Smith M, Zhang J
Oncol Rep 2020 Jun;43(6):1945-1963. Epub 2020 Mar 18 doi: 10.3892/or.2020.7550. PMID: 32186778Free PMC Article
Costa B, Kean MJ, Ast V, Knight JD, Mett A, Levy Z, Ceccarelli DF, Badillo BG, Eils R, König R, Gingras AC, Fainzilber M
J Biol Chem 2012 Aug 24;287(35):29285-9. Epub 2012 Jul 10 doi: 10.1074/jbc.C112.345397. PMID: 22782892Free PMC Article
Harel L, Costa B, Fainzilber M
Dev Neurobiol 2010 Apr;70(5):298-303. doi: 10.1002/dneu.20769. PMID: 20186708

Clinical prediction guides

Chan AC, Drakos SG, Ruiz OE, Smith AC, Gibson CC, Ling J, Passi SF, Stratman AN, Sacharidou A, Revelo MP, Grossmann AH, Diakos NA, Davis GE, Metzstein MM, Whitehead KJ, Li DY
J Clin Invest 2011 May;121(5):1871-81. Epub 2011 Apr 1 doi: 10.1172/JCI44393. PMID: 21490399Free PMC Article
Harel L, Costa B, Fainzilber M
Dev Neurobiol 2010 Apr;70(5):298-303. doi: 10.1002/dneu.20769. PMID: 20186708

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