Materiały źródłowe

• #1 Epidemiology of cavernous malformations – PubMed

  https://pubmed.ncbi.nlm.nih.gov/28552146/

  Cavernous malformations, accounting for approximately 5-15% of all vascular abnormalities in the central nervous system, are angiographically occult lesions which most often present with seizures, rather than acute hemorrhage. Widely variable across populations, the incidence of cavernous malformations has been reported to be 0.15-0.56 per 100 000 persons per year, with an annual hemorrhage rate of 0.6-11% per patient-year. Seen in 0.17-0.9% of the population, up to one-half are familial, and at least three gene loci have been associated with a familial form, more common among Hispanic Americans. […] Most cavernous malformations are supratentorial, with 10-23% in the posterior fossa, and approximately 5% found in the spine.

• #1 Epidemiology of Cavernous Malformations in Children – ISPN Guide

  https://ispn.guide/vascular-disorders-of-the-nervous-system-in-children/cavernous-malformations-in-children-homepage/epidemiology-of-cavernous-malformations-in-children/

  0.40.5% prevalence: Postmortem studies performed in the 1980s found that 0.370.5% of the population harbored cavernous malformations. Similar results were obtained by MRI examination with a prevalence of 0.40.5% […] Mean age at presentation 9.110.2 years: Cavernous malformations represent 1.718% of all vascular malformations in children, and 25% of cavernous malformations are observed in children under 18 years of age, with a mean age of 9.110.2 years […] Higher prevalence of familial cases in Hispanic-Americans: Cavernous malformations occur in two forms: sporadic and familial. The sporadic form occurs as isolated cases and most commonly with a single lesion. The familial form is characterized by multiple lesions and an autosomal dominant mode of inheritance. The proportion of familial cases has been estimated to be as high as 50% in Hispanic-American patients of Mexican descent, and close to 1040% in other populations

• #2 Cerebral Cavernous Malformations – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538144/

  Cavernous malformations (CCMs) are the most common cerebral vascular abnormality, accounting for 10% to 25% of all vascular malformations. […] The incidence of CCMs is approximately 0.4% to 0.8% in the general population. […] The majority (approximately 75%) of CCMs are found in the supratentorial compartment in predictable proportion to the volume of neural tissue present. […] Clinical presentation is bimodal, with a significant number of cases detected in both adolescents and middle-aged adults. […] Familial CCM is notably prevalent among persons of northern Mexican ancestry, compared with other populations, with rates as high as 50%, an effect traced to a common founder mutation. […] The incidence of incidentally detected CCM has increased substantially due to the widespread use of MRI.

• #3 Cerebral cavernous venous malformation | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/cerebral-cavernous-venous-malformation?lang=us

  Cerebral cavernous venous malformations, also commonly known as cavernous hemangiomas or cavernomas, are common cerebral vascular malformations, usually with characteristic appearances on MRI. It is the third most common cerebral vascular malformation after developmental venous anomaly and capillary telangiectasia. […] Most patients who present symptomatically do so at 40-60 years of age. Most patients have single lesions. Multiple lesions may be familial and screening of family members may be indicated (see familial multiple cavernous malformation syndrome). Additionally, cavernous malformations, along with capillary telangiectasias, are commonly seen following cerebral radiotherapy. Around 40% (range 20-50%) of cavernous malformations are incidental findings on neuro-imaging.

• #4 A brief history of cerebral cavernous malformations: a personal perspective

  https://www.oaepublish.com/articles/2574-1209.2021.65

  As is the case in many areas of medicine and science in general, there has been a dramatic acceleration in the acquisition of understanding during the last few decades. This is also the case for cerebral cavernous malformations (CCMs). […] CCMs were reported as rare compared to other vascular anomalies with an incidence of only 1% of all intracranial vascular lesions and 15% of all cerebral vascular malformations. Their familial occurrence was thought to be exceptional. […] A very large retrospective autopsy study suggested a prevalence of around 0.4%. […] The possibility to diagnose CCMs without pathological/surgical confirmation allowed clinicians to confirm the CCM prevalence as ranging between 0.16% and 0.9%, corroborating the pathological data of Otten et al. […] MRI also made possible the conduction of prospective epidemiological studies that fundamentally corroborated the older data regarding clinical presentation.

• #5 Incidence, clinical presentation and imaging findings of cavernous malformations of the CNS

  https://smw.ch/index.php/smw/article/download/1271/1427?inline=1

  Up to 88% of cavernous malformations (CMs) of the central nervous system can become symptomatic and cause long-term disability. […] The aim of this study was to document the characteristics of CMs in the catchment area of our institution. […] In the period from 1985-2004, a total of 347 patients were investigated. […] A total of 1.31 and 0.55 symptomatic and asymptomatic cases, respectively, were newly diagnosed per annum per 100000 inhabitants. […] The observed frequency of CM, including multiple lesions in a single individual and the familial form of this pathological entity appears relatively high compared to medical literature. […] The estimated prevalence in the population is about 0.4%. […] The frequency of the hereditary form in the CM-affected population is 650%. […] In the cohort from Bern, 8.4% of the studied population had the familial autosomal dominant form, which was documented in 29 cases from 12 families.

• #6 Cavernous Malformation | Barrow Neurological InstituteSecond Opinion IconGroup 49

  https://www.barrowneuro.org/condition/cavernous-malformation/

  About one person in every 100 to 200 people has a cerebral cavernous malformation, but about 25 percent of people affected never have symptoms. […] Cerebral cavernous malformations are mainly diagnosed by magnetic resonance imaging (MRI). They have a telltale characteristic appearance on MRI. […] These lesions usually are not life-threatening, but repeated bleeds may cause permanent neurological deficits. Malformations in sensitive tissue like the brainstem and thalamus can be extremely disabling if they bleed. […] Most of cavernous malformations are classified as sporadic cavernous malformations, meaning there is no known family history of the disease. However, 15 percent are caused by inherited genetic mutations. There are known as familial cavernous malformations.

• #7

  https://smw.ch/index.php/smw/article/view/1271

  Up to 88% of cavernous malformations (CMs) of the central nervous system can become symptomatic and cause long-term disability. […] The observed frequency of CM, including multiple lesions in a single individual and the familial form of this pathological entity appears relatively high compared to medical literature. […] In the period from 1985-2004, a total of 347 patients were investigated. The cohort included about 75% symptomatic CM cases. A total of 1.31 and 0.55 symptomatic and asymptomatic cases, respectively, were newly diagnosed per annum per 100000 inhabitants. […] When compared to medical literature, there was a relatively high frequency of multiple CMs (18.9%), which were more common in the familial form (62%).

• #8 Cavernous Angioma (Malformation) Imaging and Diagnosis: Practice Essentials, Computed Tomography, Magnetic Resonance Imaging

  https://emedicine.medscape.com/article/337534-overview

  Cavernous angiomas (also variably termed cavernomas, cavernous malformations, and cavernous hemangiomas) are intracranial developmental malformations of the vascular bed that frequently enlarge over time. Approximately 80% of patients have the sporadic form of disease and 20% the familial form. A prospective population-based imaging study by the Mayo Clinic consisting of older adults 50-89 years of age found the prevalence of cerebral cavernous malformation to be 0.46%. The prevalence of familial cerebral cavernous malformation is estimated to be 1 in 5000 to 10 000. […] Most cavernous angiomas are diagnosed by MRI, which has been shown to have nearly 100% sensitivity. MRI is particularly valuable in identifying multiple lesions in familial disease. […] MRI is the method of choice for the long-term follow-up of patients with cavernous angiomas and for the assessment of family members in whom similar lesions are suspected.

• #9 Cavernoma

  https://www.nhs.uk/conditions/cavernoma/

  It’s estimated about 1 in every 600 people in the UK has a cavernoma that does not cause symptoms. […] Every year, around 1 person in every 400,000 in the UK is diagnosed with a cavernoma that has caused symptoms. […] If symptoms do occur, most people will develop them between the ages of 20 and 40. […] MRI scans are mainly used to diagnose cavernomas. […] As symptoms are not always evident, many people are only diagnosed with a cavernoma after having an MRI scan for another reason. […] MRI and CT scans can be used to detect bleeding on the brain, although they cannot necessarily identify cavernomas at an increased risk of bleeding. […] The risk of having a haemorrhage varies from person to person, depending on whether you have experienced any bleeding before. […] If you have not had any bleeding before, it’s estimated you have a less than 1% chance of experiencing a haemorrhage each year. […] If your cavernoma has bled previously, your risk of having another haemorrhage is somewhere between 4% and 25% each year. […] Your level of risk will be one of the main factors taken into consideration when deciding if you would benefit from treatment.

• #10 Update on the natural history of cavernous malformations and factors predicting aggressive clinical presentation in: Neurosurgical Focus Volume 29 Issue 3 (2010) Journals

  https://thejns.org/focus/view/journals/neurosurg-focus/29/3/2010.5.focus10149.xml

  Cavernous malformations occur in sporadic and familial forms. They are the second most common vascular lesion behind developmental venous anomalies and account for 10%15% of all vascular malformations. Based on autopsy and MR imaging studies, the incidence ranges from 0.4% to 0.8%, with 25% of these occurring in children. The average age of adult presentation is in the 4th or 5th decade of life. Children present in a bimodal pattern with peaks at 02 years of age and 1316 years of age. […] The familial form of CMs comprises approximately 6%50% of all cases, and a higher prevalence has been noted in people with Mexican-American ethnicity. Based on current imaging studies, more than 50% of patients with familial CMs have multiple lesions compared with only 12%20% in those with the sporadic form. In regard to sex, the prevalence of CMs appears equal among men and women. However, some studies have raised the question of an increased incidence of symptomatic lesions in women.

• #11 Epidemiology of Cavernous Malformations in Children – ISPN Guide

  https://ispn.guide/vascular-disorders-of-the-nervous-system-in-children/cavernous-malformations-in-children-homepage/epidemiology-of-cavernous-malformations-in-children/

  0.40.5% prevalence: Postmortem studies performed in the 1980s found that 0.370.5% of the population harbored cavernous malformations. Similar results were obtained by MRI examination with a prevalence of 0.40.5% […] Mean age at presentation 9.110.2 years: Cavernous malformations represent 1.718% of all vascular malformations in children, and 25% of cavernous malformations are observed in children under 18 years of age, with a mean age of 9.110.2 years […] Higher prevalence of familial cases in Hispanic-Americans: Cavernous malformations occur in two forms: sporadic and familial. The sporadic form occurs as isolated cases and most commonly with a single lesion. The familial form is characterized by multiple lesions and an autosomal dominant mode of inheritance. The proportion of familial cases has been estimated to be as high as 50% in Hispanic-American patients of Mexican descent, and close to 1040% in other populations

• #11 Epidemiology of Cavernous Malformations in Children – ISPN Guide

  https://ispn.guide/vascular-disorders-of-the-nervous-system-in-children/cavernous-malformations-in-children-homepage/epidemiology-of-cavernous-malformations-in-children/

  Prior radiation therapy: Lesions consistent with cavernous malformations of the brain are sometimes seen on MRI scans of patients who received radiation therapy for brain tumors as children. The lesions appear years later in brain tissue that was included in the radiation fields. They rarely require surgical excision and thus seldom have pathological confirmation. However, pathological analysis of three resected lesions showed typical characteristics of cavernous malformations. It is possible that cavernous malformations can occur after radiation therapy to the brain of children. These lesions are radiologically and pathologically similar to the idiopathic lesions […] Systemic cavernous malformations: Cavernous malformations as vascular malformations can occur both inside and outside the CNS, such as in the skin, mucosa, eye, liver, gastrointestinal tract, and spine. The incidence is rare, and the course is usually benign. The lesions can be sporadic or familial […] Segmental cavernous malformations: Cavernous malformations are present in segmental vascular disease involving the spine in particular. The association of spinal cord vascular malformation, namely AVM, with a cutaneous angioma in the overlying dermatome is known as Cobb syndrome.

• #12 The natural history of intracranial cavernous malformations in: Neurosurgical Focus Volume 30 Issue 6 (2011) Journals

  https://thejns.org/focus/view/journals/neurosurg-focus/30/6/2011.3.focus1165.xml

  Literature reports on the natural history of cerebral cavernous malformations (CMs) are numerous, with considerable variability in lesion epidemiology, hemorrhage rates, and risk factors for hemorrhage. […] The overall male-to-female ratio was 1:1, and the mean age at presentation was 30.6 years. […] An overall annual hemorrhage rate of 2.4% per patient-year (range 1.6%3.1%) was identified across 3 studies. […] Prior hemorrhage and female sex were risk factors for bleeding, while CM size and multiplicity did not affect hemorrhage rates. […] Overall, approximately one-fifth of patients with cerebral CMs will harbor additional lesions. […] Developmental venous anomalies are present radiographically in approximately one-tenth of cases overall, although they are likely to be more prevalent in aggressive lesions and may play a role in CM development.

• #12 The natural history of intracranial cavernous malformations in: Neurosurgical Focus Volume 30 Issue 6 (2011) Journals

  https://thejns.org/focus/view/journals/neurosurg-focus/30/6/2011.3.focus1165.xml

  An overall annual hemorrhage rate of 2.4% per patient year was seen, with prior hemorrhage and female sex increasing the risk of subsequent hemorrhage. […] Cavernous malformation size, multiplicity, and location did not affect hemorrhage rates, although deep lesions were more clinically aggressive.

• #13 Cavernous malformations | MedLink Neurology

  https://www.medlink.com/articles/cavernous-malformations

  Several genes and specific mutations causing cerebral cavernous malformations in families with the disease have been identified. In the last few years, many advances have culminated in elucidating the genetics of these vascular lesions. Linkage analyses using autosomal dominant families manifesting CCMs have identified three different causative loci on chromosomes 7q21.2 (CCM1), 7p13 (CCM2), and 3q25.2-q27 (CCM3). […] Intracranial cavernous malformations affect both sexes with equal frequency, except in the middle cranial fossa, where there is a female preponderance. It affects all ages, with most patients presenting in the second to fourth decade. Data from virtually all clinical series demonstrate that symptomatic lesions are rare in the elderly. […] Cavernous malformations have been reported to range in size from less than 0.1 cm to as large as 9 cm. Most intracranial cavernous malformations are supratentorial, whereas approximately 15% are infratentorial, and 5% are located in the spine.

• #14 Stereotactic radiosurgery (SRS) for patients with brainstem cerebral cavernous malformations (CCMs): an international, multicentric study | Scientific Reports

  https://www.nature.com/articles/s41598-024-77140-z

  Brainstem cerebral cavernous malformations (CCM) are clinically more aggressive compared to superficial CCMs. […] The risk of repeat hemorrhage is estimated to be as high as 30.8% at 5 years for patients with brainstem CCMs presenting with intracerebral hemorrhage or focal neurological deficit compared to 18.4% in other location. […] Stereotactic radiosurgery (SRS) can be an alternative treatment option for brainstem CCM patients. […] Our intention with this retrospective, multicentric study is to better define the benefits and risks of treating brainstem CCM patients using Gamma Knife radiosurgery, and better define the role of SRS in the management of brainstem CCM patients. […] The difference between symptomatic intracerebral hemorrhage (ICH) rates prior to and after SRS was the primary endpoint; the occurrence and evolution of neurological deficit, and the development of adverse radiation effects (ARE) were secondary outcomes.

• #15 Orphanet: Familial cerebral cavernous malformation

  https://www.orpha.net/en/disease/detail/221061

  A rare, capillary-venous malformations characterized 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 hemorrhages. […] The overall prevalence of all CCMs has been estimated at 1/200 to 1/1,000 individuals. Familial cerebral cavernous malformation (FCCM) represents about 20% of all CCM cases with an estimated prevalence of 1/5,000 -1/10,000 and is therefore rare, contrarily to sporadic CCMs which are not. A strong founder effect has been found in Hispanic-American CCM families. […] Regular check-ups, generally with an MRI once a year, are recommended after the discovery of a CCM, as additional asymptomatic lesions may appear with time. These MRI check-ups can be spaced to once every 5 years in the absence of intercurrent symptoms.

• #16 Familial multiple cavernous malformation syndrome | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/familial-multiple-cavernous-malformation-syndrome?lang=us

  The familial multiple cavernous malformation syndrome, or familial cerebral cavernous malformation syndrome, is uncommon, accounting for only a minority of cavernous malformations. […] It has been more frequently reported in patients of Hispanic descent. […] Familial cases usually have an autosomal dominant pattern of inheritance with incomplete penetrance.

• #17

  https://link.springer.com/article/10.1007/s00701-024-06378-3

  Multiple CMs may develop sporadically or as part of familial cavernomatosis. […] In patients with familial CMs, germline mutations in the CCM1, CCM2, or CCM3 genes result in the continual formation of new lesions, making curative surgery impossible. […] Thus, surgical treatment in patients with multiple CMs should be limited to symptomatic lesions, following the same criteria used for solitary symptomatic lesions.

• #17

  https://link.springer.com/article/10.1007/s00701-024-06378-3

  In recent years, knowledge about cerebrospinal cavernomas has grown considerably, leading to the development of initial guidelines and treatment recommendations. […] However, due to the rarity and heterogeneity of the disease, the level of evidence remains limited, leaving many questions unanswered and subject to ongoing debate. […] Current guidelines recommend genetic testing in patients with multiple CMs when there is no associated DVA, history of brain irradiation, or a positive family history. […] The treatment options for CNS-CMs range from conservative approaches to surgical interventions, depending on the characteristics of the lesions and the clinical profile of the patients. […] Although debated, surgical resection remains the gold standard and the only curative option for symptomatic or high-risk CMs with a history of hemorrhage.

• #17

  https://link.springer.com/article/10.1007/s00701-024-06378-3

  Randomized controlled trials comparing surgical and conservative treatments are scarce, and most available evidence comes from observational studies, which are often limited by selection bias, single-center recruitment, and short follow-up periods. […] Despite these limitations, recent efforts to conduct higher-quality research studies have been encouraging, though definitive results are still pending. […] The clinical presentation of CMs varies widely, ranging from asymptomatic cases to those with seizures or neurological deficits caused by a symptomatic hemorrhage or mass effect. […] For patients who are not suitable candidates for surgery such as those with asymptomatic CMs, no history of hemorrhage, or lesions in high-risk locations conservative management is recommended. […] Notably, no formal guidelines exist on the necessity or frequency of imaging for conservatively managed patients, emphasizing the need for individualized care based on clinical judgment.

• #18

  https://link.springer.com/article/10.1007/s10143-023-01949-x

  Cerebral cavernous malformations (CCMs) are commonly diagnosed, with a low reported rate of haemorrhage on long-term follow-up. […] The aim of this study was to identify variables associated with haemorrhage, and calculate haemorrhage risk in CCM. […] The annual haemorrhage rate was 1.00% per lesion-year (25 events in 2512 lesion-years), and higher in those with symptoms at presentation (1.50% per lesion-year, 22 events vs 0.29%, 3 events,P0.001). […] The variables associated with symptomatic haemorrhage were increased size (hazard ratio [HR] 1.04, 95% confidence interval [CI] 1.011.07,P= 0.004), eloquent location (HR 2.63, 95% CI 1.126.16,P= 0.026), and symptomatic haemorrhage at presentation (HR 5.37, 95% CI 2.4011.99,P = 0.001). […] This study demonstrated that CCMs have a low haemorrhage rate. Increased size, eloquent location, and haemorrhage at presentation appear to be predictive of a higher risk of haemorrhage, and could be used to stratify management protocols.

• #18

  https://link.springer.com/article/10.1007/s10143-023-01949-x

  The primary objective of the study was to evaluate variables associated with symptomatic haemorrhage risk in a large cohort of patients with CCM. […] The factors associated with symptomatic haemorrhage on multivariable analysis were increasing size, eloquent location, and symptomatic haemorrhage at presentation. […] Our haemorrhage rates of 1.50% per year for symptomatic CCM and 0.29% for asymptomatic CCM are in congruity with Kearns et al., who identified a haemorrhage rate of 2.7% per year for CCMs with a previous symptomatic haemorrhage, and 0.15% per year for those asymptomatic. […] The identification of those CCMs that are more prone to haemorrhage based on radiological and clinical factors may be a step forward in optimising and personalising effective management.

• #19 Natural course of cerebral and spinal cavernous malformations: a complete ten-year follow-up study | Scientific Reports

  https://www.nature.com/articles/s41598-023-42594-0

  Knowledge of the bleeding risk and the long-term outcome of conservatively treated patients with cavernous malformations (CM) is poor. In this work, we studied the occurrence of CM-associated hemorrhage over a 10-year period and investigated risk factors for bleeding. A total of 91 CM patients were included. Adjusted multivariate logistic regression analysis identified bleeding at diagnosis (p=0.039) and CM localization to the spine (p=0.010) as predictors for (re)hemorrhage. The cumulative 10-year risk of bleeding was 30% for the whole cohort, 39% for patients with bleeding at diagnosis and 67% for ISCM. During an untreated 10-year follow-up, the probability of hemorrhage increased over time, especially in cases with bleeding at presentation and spinal cord localization. These findings may indicate a rather aggressive course in patients with ISCM and may endorse early surgical treatment.

• #19 Natural course of cerebral and spinal cavernous malformations: a complete ten-year follow-up study | Scientific Reports

  https://www.nature.com/articles/s41598-023-42594-0

  A considerable number of observational and population-based studies assessed the natural course of the disease and risk factors increasing the bleeding risk (e.g. lesion localization, previous hemorrhage, presence of developmental venous anomaly (DVA)). These studies estimate a cumulative risk of 20% over a 5-years timeline for patients with cerebral cavernous malformations (CCM), as well as 40% for patients with an intramedullary spinal cavernous malformations (ISCM). […] Our study identified ICH as mode of presentation and spinal cord localization as risk factors for (re)hemorrhage. The latter has been assessed in a few number of studies, finding similar results. Moreover, previous studies have assessed an annual risk of hemorrhage of ISCM between 1.7 and 10%. Our study revealed a rate of 7%, which is within the range of the expected risk.

• #19 Natural course of cerebral and spinal cavernous malformations: a complete ten-year follow-up study | Scientific Reports

  https://www.nature.com/articles/s41598-023-42594-0

  Our cumulative 10-year analysis revealed a progressively decreasing risk of hemorrhage after each year in the entire cohort, as well as a significant increase of this risk when only considering patients with ICH or IMH at presentation. Interestingly, our findings showed a rather high risk of (re)hemorrhage in patients with ISCM compared to those with CCM. This could indicate a more aggressive course in patients with ISCM.

• #20 Susceptibility-Weighted Imaging for the Evaluation of Patients with Familial Cerebral Cavernous Malformations: A Comparison with T2-Weighted Fast Spin-Echo and Gradient-Echo Sequences | American Journal of Neuroradiology

  http://www.ajnr.org/content/29/1/154

  Our results show the clear superiority of SWI over T2-weighted FSE and GRE sequences in depicting small lesions and also in dissociating CCM from bony interface and hemosiderin artifacts. […] Finally, because the number of lesions seen on SWI was higher than that on T2-weighted GRE images, we suggest a modification of type IV lesions in the classification of Zabramski et al.

• #20 Susceptibility-Weighted Imaging for the Evaluation of Patients with Familial Cerebral Cavernous Malformations: A Comparison with T2-Weighted Fast Spin-Echo and Gradient-Echo Sequences | American Journal of Neuroradiology

  http://www.ajnr.org/content/29/1/154

  Cerebral cavernous malformation (CCM) comprise 5%13% of all the central nervous system vascular malformations, with an estimated prevalence of 0.5% in the general population. […] The finding of multiple CCM lesions calls for a family screening that may confirm the diagnosis of unrecognized affected patients and establish the baseline imaging for the appropriate follow-up of the kindred. The likelihood of a de novo lesion in the future and counseling of female kindred in childbearing age make necessary an imaging surveillance of the family members with the best imaging technique available. […] Because of complications associated with the familial form of CCM, mainly bleeding and de novo lesions, these patients have to be included into protocols of surveillance. In addition, MR imaging screening of family members might make possible earlier diagnosis and better support.

• #21 Cavernous Malformation Observation | Aaron Cohen-Gadol, MD

  https://www.aaroncohen-gadol.com/en/patients/cavernous-malformation/treatment/observation

  A watch-and-wait approach to any medical condition can be stressful and emotionally draining. But in many cases of cavernous malformations, simply monitoring the condition over time is a reasonable option. […] Observation is a very reasonable option for patients with cavernous malformations with no symptoms or mild symptoms, especially if safe surgical removal is difficult because of the location of the cavernous malformation, or if you have other medical conditions that make surgery too risky. […] Observation of a cavernous malformation is a favorable treatment option for patients experiencing no symptoms. The risk of bleeding is low, especially if the cavernous malformation has never bled before. With regular monitoring, the cost and potential complications of other treatment options such as surgery can be avoided.

• #22 Cavernous Malformations | Cedars-Sinai

  https://www.cedars-sinai.org/health-library/diseases-and-conditions/c/cavernous-malformations.html

  If the malformation isn’t causing symptoms and doesn’t appear to be growing rapidly, all that may be needed to regular monitoring. This is done by having MRI scans or CT scans every couple of years. […] A cavernous malformation that is stable and not bleeding may cause no symptoms. All that may be needed is regular observation. […] A malformation that has had bleeding is more likely to bleed again. If the malformation is growing at a fairly rapid rate, it may be necessary to remove it.

• #23 Prevalence, genetic and clinical characteristics in first-degree relatives of patients with familial cerebral cavernous malformations in China | Stroke and Vascular Neurology

  https://svn.bmj.com/content/early/2024/05/14/svn-2023-003004

  The prevalence of CCMs in the first-degree relatives (FDRs) of families with FCCMs in China was 36.5%. […] Genetic counselling and MRI screening are recommended for FDRs in patients with more than three CCM lesions on T2WI. […] The prevalence of FCCM in FDRs is difficult to be estimated due to incomplete penetrance and inconsistent presentation of the disease. […] The study provides evidence based to improve FCCM FDRs screening and policy development for the management and treatment. […] This study investigated CCM in the FDRs of families with FCCMs were using MRI and genetic studies, resulting in a prevalence of 36.5% in China.

• #24

  https://umiamihealth.org/en/treatments-and-services/neurosurgery/cerebral-cavernous-malformations

  Cavernous malformations are found in approximately 0.5% of the population. They occur almost equally in both men and women, regardless of race and age. […] The University of Miami Health System is designated a Center of Excellence in Cerebral Cavernous Malformation (CCM) by the Alliance to Cure Cavernous Malformation. […] We have a number of clinical trials enrolling and following CCM patients to better assess outcomes according to specific patient and disease characteristics. Additionally, we are collecting blood and CCMs from the operating room to help develop better molecular tests to determine which CCM may bleed. Research on the collected CCMs is working to develop novel medical therapies, imaging, and minimally invasive treatment options.

• #25 UCSF Cavernous Hemangioma Trial → Modifiers of Disease Severity in Cerebral Cavernous Malformations

  https://clinicaltrials.ucsf.edu/trial/NCT01764529

  The specific goals of this study are to: Identify factors that influence lesion progression to symptomatic hemorrhage and other outcomes, including quality of life; Investigate the role of the gut microbiome and lesion burden in CCM disease, and Identify blood biomarkers predictive of CCM disease severity and progression for clinical trials. […] We collect clinical, genetic, imaging, treatment, and outcome data in participants, and follow enrolled participants over time to understand the natural history of this disease.

• #26 Breaking new ground in cerebral cavernous malformation research – Boston Children’s Answers

  https://answers.childrenshospital.org/cavmal-research/

  Dr. Ed Smith and the Cerebrovascular Surgery and Intervention Center team are pioneering research and guidelines to enhance diagnosis and treatment of cavernous malformations, focusing on genetics and advanced interventions for better care and outcomes for families. […] To address these issues effectively, advanced diagnostics and precise interventions are essential. […] The Cerebrovascular Surgery and Interventions Center not only helped Hudson but also revealed a possible hereditary link to his cavernous malformations. […] This finding underscores the importance of genetic counseling as a way to gain critical insights into FCCMs’ nature, inheritance patterns, and implications. Such knowledge help clinicians make appropriate recommendations for genetic testing and surveillance and empowers families to make informed medical decisions and understand familial risks.

• #27 Complex Case: Navigating Risk to Resect a Cavernous Malformation & Relieve Functional Decline | NYU Langone News

  https://nyulangone.org/news/complex-case-navigating-risk-resect-cavernous-malformation-relieve-functional-decline

  When imaging prompted by recurrent neurological symptoms revealed a cavernous malformation in the brain, a 49-year-old patient was referred to experts at NYU Langones Center for Stroke and Neurovascular Diseases for surgical intervention. […] Imaging subsequently revealed a cavernous malformation at the tectum, and active surveillance was recommended. […] The patients history also supported surgery: While there is a 0.25 percent to 2.3 percent initial hemorrhage rate, it climbs to between 30 percent and 40 percent for patients with symptomatic recurrent hemorrhage, making the need for resection more urgent. […] Imaging indicated that a subtentorial supracerebellar approach while operating in the sitting position would enable access for complete resection. […] This case required a unique combination of advanced imaging and a highly refined approach that together enabled the planning and execution of a successful resection, he notes.

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