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.

• #2

  https://link.springer.com/article/10.1007/s10143-021-01572-8

  Cavernoma or cavernous malformation (CM) is a benign non-shunting vascular malformation that is prone to bleed. They account for 5-15% of the central nervous system (CNS) vascular malformations and present with seizures, focal neurologic deficits (FND), or incidentally. Disease prevalence ranges from 0.4 to 0.8%. The overall annual bleeding risk is 2.4% patient/year. In previously unruptured CM, the bleeding risk is 0.3-2.8% patient/year, but the risk reaches 6.3-32.2% patient/year once the cavernoma bled. […] The main concern is the outcome of surgical treatment. There is a need to validate the quality of life of the patients after surgical resection of the cavernoma, especially in deep or eloquent areas. By reviewing the literature, we found many studies that assess the outcome after CNS cavernoma surgery and to a lesser extent after surgery of cavernomas located in eloquent regions. However, studies that assess the QoL are still rare. Only four studies assess the quality of life of these patients, including three studies that evaluated brainstem cases only.

• #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 Cavernous hemangioma – Wikipedia

  https://en.wikipedia.org/wiki/Cavernous_hemangioma

  The true incidence of cavernous hemangiomas is difficult to estimate because they are frequently misdiagnosed as other venous malformations. Cavernous hemangiomas of the brain and spinal cord (cerebral cavernous hemangiomas (malformations) (CCM)), can appear at all ages, but usually occur in the third to fourth decade of the life of a person of either sex; CCM is present in 0.5% of the population. However, approximately 40% of those with malformations have symptoms. Asymptomatic affected individuals have usually developed the malformation sporadically, while symptomatic individuals have usually inherited the genetic mutation. 25% of cases of CCM are children. Approximately 5% of adults have liver hemangiomas in the United States, but most are asymptomatic. Liver hemangiomas usually occur between the ages of 30 and 50 and more commonly in women. Cases of infantile liver cavernomas are extremely rare. Cavernous hemangioma of the eye is more prevalent in women than men, usually between the ages of 20 and 40.

• #5 Cavernous malformation – WikiLectures

  https://www.wikilectures.eu/w/Cavernous_malformation

  approximately half of the patients are asymptomatic . Therefore, even the clear epidemiology of this vascular malformation is not precisely determined, many patients are not diagnosed. […] Cavernous malformation (also cavernoma, cavernous angioma or hemangioma; CM) is a designation for a vascular malformation characterized by the accumulation of widely dilated blood vessels. Compared to AVMs, blood flow is slowed in CMs due to a different morphological arrangement, and CMs are (in most cases) not visualized on DSA. There are two forms of CM: sporadic and familial (AD disease).

• #6 Stereotactic radiosurgery for haemorrhagic cerebral cavernous malformation: a multi-institutional, retrospective study | Stroke and Vascular Neurology

  https://svn.bmj.com/content/9/3/221

  Cerebral cavernous malformations (CCMs) frequently manifest with haemorrhages. […] The aim of this study was to expand on the safety and efficacy of SRS for haemorrhagic CCM. […] The annual haemorrhagic rate (AHR) was calculated before and after SRS. […] The AHR from diagnosis to SRS excluding the first haemorrhage was 11.08 per 100 CCM-years and was reduced to 2.7 per 100 CCM-years after treatment. […] In recurrent event analysis, SRS, HR 0.27 (95% CI 0.17 to 0.44), p0.0001 was associated with a decreased risk of haemorrhage. […] The cumulative risk of first haemorrhage after SRS was 9.4% (95% CI 6% to 12.6%) at 5 years and 15.6% (95% CI% 9 to 21.8%) at 10 years. […] Single-session SRS for haemorrhagic CCM is associated with a decrease in haemorrhage rate. […] The prevalence of cerebral cavernous malformations (CCMs) is estimated between 0.2% and 0.5%.

• #7 EyeRounds.org:Intralenticular Foreign Body : 23 year-old male with staple in the eye

  https://webeye.ophth.uiowa.edu/eyeforum/cases/236-Cerebral-Cavernoma.htm

  Cavernoma, or cavernous malformation, generally refers to a lesion formed by the recurrent internal hemorrhage of a vascular hamartoma. However, the term can also be used to describe a true benign vascular neoplasm such as cavernous angioma/hemangioma or capillary hemangioma. It is estimated that cavernomas occur in the general population at a rate of 0.4-0.9%. They represent 10-20% of all central nervous system (CNS) vascular malformations. Cavernomas can be located anywhere in the CNS (80% supratentorial, 15% infratentorial, 5% spinal) and can be sporadic (75%) or familial (10-30%). Asymptomatic cavernomas generally remain undiagnosed, while symptomatic cavernomas commonly present with seizure, headache, decreased vision, cranial nerve dysfunction (although cranial nerve involvement is rare), hypothalamic/hypophyseal disorders, or subarachnoid hemorrhage (SAH). SAH due to cavernomas typically have a better prognosis than those caused by intra-axial hemorrhage. The current gold standard for diagnosis is magnetic resonance imaging (specifically T2 Gradient Recalled Echo (GRE) which reveals areas of mixed signal intensity, with a central reticulated cores and peripheral rims of decreased signal intensity, generally referred to as a 'popcorn’ or 'target’ appearance. The current gold standard for definitive treatment is gross total resection, as other treatment modalities such as decompression and radiosurgery may have an increased risk for re-bleeding.

• #8

  https://link.springer.com/article/10.1007/s10143-021-01572-8

  Cavernoma or cavernous malformation (CM) is a benign non-shunting vascular malformation that is prone to bleed. They account for 5-15% of the central nervous system (CNS) vascular malformations and present with seizures, focal neurologic deficits (FND), or incidentally. Disease prevalence ranges from 0.4 to 0.8%. The overall annual bleeding risk is 2.4% patient/year. In previously unruptured CM, the bleeding risk is 0.3-2.8% patient/year, but the risk reaches 6.3-32.2% patient/year once the cavernoma bled. […] The main concern is the outcome of surgical treatment. There is a need to validate the quality of life of the patients after surgical resection of the cavernoma, especially in deep or eloquent areas. By reviewing the literature, we found many studies that assess the outcome after CNS cavernoma surgery and to a lesser extent after surgery of cavernomas located in eloquent regions. However, studies that assess the QoL are still rare. Only four studies assess the quality of life of these patients, including three studies that evaluated brainstem cases only.

• #9 Cavernoma Surgery | Best Cavernoma Surgeon | Cavernous Malformation Brain | C.N.S. Neurosurgery

  https://www.cnsneurosurgery.com.au/resources/cavernous-malformation-cavernoma/

  One in 4 or 5 (i.e., 20-25% of all cavernomas) are found in the hindbrain (posterior fossa; infratentorial), especially in the pons region of the brainstem. […] They are not very common. Their prevalence (presence at any given time) in the population is probably somewhere between 0.1 0.5% (i.e., 1 in 200 to 1 in 1000 people in the general population); they are about as common as brain arteriovenous malformations (AVM), and far less common than brain aneurysms. […] The risk of hemorrhage from a cavernoma is somewhere between 0.5-1% per year. It may be greater (or at least easier felt symptomatically) in cavernomas located in more eloquent brain such as the basal ganglia, thalamus, brainstem, and spinal cord. The rehemorrhage rate varies in the literature, but is probably somewhere between 4-10% per year (some reports indicate an even higher rate in the first year or two following the first diagnosed cavernoma hemorrhage). It has been reported that they can become more symptomatic during pregnancy.

• #10 Cavernous Malformation: Symptoms, Causes & Treatment Options

  https://njbrainspine.com/condition/cavernous-malformation/

  Cavernous malformations occur in 0.3-0.5% of the population and in 1/200 people between the ages of 30-50. […] Hemorrhage rates range from 0.5% to 6% annually; bleeding rates are higher in brainstem cavernomas or in those that had bled previously. […] Apart from surveillance of asymptomatic lesions, treatment is limited to surgery and is indicated in patients with hemorrhagic lesions, in those with intractable seizures or who have suffered from a neurological disability.

• #11 Cavernous Malformation | Lurie Children’s

  https://www.luriechildrens.org/en/specialties-conditions/cavernoma/

  Estimates suggest that cavernomas occur in approximately one out of every 100-200 people, that is, roughly in 0.5 to 1% of the general population. […] It is thought that more than 30% of people with cavernomas eventually develop symptoms.

• #12 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.

• #13 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 malformations are angiographically occult, and when they are evident on angiograms, the findings are nonspecific. MRI has largely replaced conventional angiography in the diagnosis of cavernomas. However, when the lesions occur in combination with other types of vascular malformations, as they do in as many as 30% of patients with venous angiomas, MRI characteristics become more complicated and less specific. In these patients, angiography can help further define the lesions.

• #14 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.

• #15 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.

• #16 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.

• #17 Cavernous hemangioma – Wikipedia

  https://en.wikipedia.org/wiki/Cavernous_hemangioma

  The true incidence of cavernous hemangiomas is difficult to estimate because they are frequently misdiagnosed as other venous malformations. Cavernous hemangiomas of the brain and spinal cord (cerebral cavernous hemangiomas (malformations) (CCM)), can appear at all ages, but usually occur in the third to fourth decade of the life of a person of either sex; CCM is present in 0.5% of the population. However, approximately 40% of those with malformations have symptoms. Asymptomatic affected individuals have usually developed the malformation sporadically, while symptomatic individuals have usually inherited the genetic mutation. 25% of cases of CCM are children. Approximately 5% of adults have liver hemangiomas in the United States, but most are asymptomatic. Liver hemangiomas usually occur between the ages of 30 and 50 and more commonly in women. Cases of infantile liver cavernomas are extremely rare. Cavernous hemangioma of the eye is more prevalent in women than men, usually between the ages of 20 and 40.

• #18 Spinal cord cavernous malformation | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/spinal-cord-cavernous-malformation?lang=us

  Spinal cord cavernomas are rare, representing ~5% of intramedullary lesions in adults and 1% of intramedullary lesions in children. […] Peak presentation is during the fourth decade, which is similar to the peak incidence of cerebral cavernomas. Females are more commonly affected than males.

• #19 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.

• #20 Genetics of Cavernous Malformation – Alliance to Cure Cavernous Malformation

  https://www.alliancetocure.org/genetics/genetics-of-cavernous-angioma/

  Cavernous malformations (also known as cavernous angioma or cavernoma) can occur either sporadically, or they may run in families and be inherited due to a genetic mutation. […] In general, cavernous malformations can develop at any age and are present in males and females in equal numbers. Importantly, all ethnic populations are susceptible to the development of a CCM and to familial forms of the illness. […] The highest known density of individuals affected by cavernous malformation is in New Mexico, USA. The disproportionate number of affected individuals is because of a specific genetic mutation in the CCM1 gene, termed the Common Hispanic Mutation. […] In recent years, researchers identified two additional CCM2 gene founder mutations. One of the founder mutations runs in the Ashkenazi Jewish population, and another, a large deletion in the CCM2 gene, traces its ancestry to an originating family born in the southern United States in the 1700s or earlier.

• #21 Cavernous Malformations | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/c/cavernous-malformation

  Cavernous malformations occur in less than one in 1,000 births. Most children and adults with non-inherited cavernomas never have symptoms and often go undiagnosed. If an individual does have symptoms, they typically develop before the age of 30. […] Cavernous malformations affect all ethnic groups. Females and males have equal chance of having the disease. […] Approximately one in four cases of cavernous malformation are inherited. The remaining cases have no clear cause. […] Individuals with inherited cavernous malformations are more likely to have multiple cavernomas in the brain, increasing their risk of developing symptoms. Half of the people who inherit cavernous malformations will pass the condition on to their children. Non-inherited cases often result in just one cavernoma with few or no symptoms.

• #22 Spinal cord cavernous malformation | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/spinal-cord-cavernous-malformation?lang=us

  Spinal cord cavernomas are rare, representing ~5% of intramedullary lesions in adults and 1% of intramedullary lesions in children. […] Peak presentation is during the fourth decade, which is similar to the peak incidence of cerebral cavernomas. Females are more commonly affected than males.

• #23 Cavernous hemangioma – Wikipedia

  https://en.wikipedia.org/wiki/Cavernous_hemangioma

  The true incidence of cavernous hemangiomas is difficult to estimate because they are frequently misdiagnosed as other venous malformations. Cavernous hemangiomas of the brain and spinal cord (cerebral cavernous hemangiomas (malformations) (CCM)), can appear at all ages, but usually occur in the third to fourth decade of the life of a person of either sex; CCM is present in 0.5% of the population. However, approximately 40% of those with malformations have symptoms. Asymptomatic affected individuals have usually developed the malformation sporadically, while symptomatic individuals have usually inherited the genetic mutation. 25% of cases of CCM are children. Approximately 5% of adults have liver hemangiomas in the United States, but most are asymptomatic. Liver hemangiomas usually occur between the ages of 30 and 50 and more commonly in women. Cases of infantile liver cavernomas are extremely rare. Cavernous hemangioma of the eye is more prevalent in women than men, usually between the ages of 20 and 40.

• #24 Genetics of Cavernous Malformation – Alliance to Cure Cavernous Malformation

  https://www.alliancetocure.org/genetics/genetics-of-cavernous-angioma/

  Cavernous malformations (also known as cavernous angioma or cavernoma) can occur either sporadically, or they may run in families and be inherited due to a genetic mutation. […] In general, cavernous malformations can develop at any age and are present in males and females in equal numbers. Importantly, all ethnic populations are susceptible to the development of a CCM and to familial forms of the illness. […] The highest known density of individuals affected by cavernous malformation is in New Mexico, USA. The disproportionate number of affected individuals is because of a specific genetic mutation in the CCM1 gene, termed the Common Hispanic Mutation. […] In recent years, researchers identified two additional CCM2 gene founder mutations. One of the founder mutations runs in the Ashkenazi Jewish population, and another, a large deletion in the CCM2 gene, traces its ancestry to an originating family born in the southern United States in the 1700s or earlier.

• #25 Cavernous Malformations | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/c/cavernous-malformation

  Cavernous malformations occur in less than one in 1,000 births. Most children and adults with non-inherited cavernomas never have symptoms and often go undiagnosed. If an individual does have symptoms, they typically develop before the age of 30. […] Cavernous malformations affect all ethnic groups. Females and males have equal chance of having the disease. […] Approximately one in four cases of cavernous malformation are inherited. The remaining cases have no clear cause. […] Individuals with inherited cavernous malformations are more likely to have multiple cavernomas in the brain, increasing their risk of developing symptoms. Half of the people who inherit cavernous malformations will pass the condition on to their children. Non-inherited cases often result in just one cavernoma with few or no symptoms.

• #26 Genetics of Cavernous Malformation – Alliance to Cure Cavernous Malformation

  https://www.alliancetocure.org/genetics/genetics-of-cavernous-angioma/

  Cavernous malformations (also known as cavernous angioma or cavernoma) can occur either sporadically, or they may run in families and be inherited due to a genetic mutation. […] In general, cavernous malformations can develop at any age and are present in males and females in equal numbers. Importantly, all ethnic populations are susceptible to the development of a CCM and to familial forms of the illness. […] The highest known density of individuals affected by cavernous malformation is in New Mexico, USA. The disproportionate number of affected individuals is because of a specific genetic mutation in the CCM1 gene, termed the Common Hispanic Mutation. […] In recent years, researchers identified two additional CCM2 gene founder mutations. One of the founder mutations runs in the Ashkenazi Jewish population, and another, a large deletion in the CCM2 gene, traces its ancestry to an originating family born in the southern United States in the 1700s or earlier.

• #27 Genetics of Cavernous Malformation – Alliance to Cure Cavernous Malformation

  https://www.alliancetocure.org/genetics/genetics-of-cavernous-angioma/

  Cavernous malformations (also known as cavernous angioma or cavernoma) can occur either sporadically, or they may run in families and be inherited due to a genetic mutation. […] In general, cavernous malformations can develop at any age and are present in males and females in equal numbers. Importantly, all ethnic populations are susceptible to the development of a CCM and to familial forms of the illness. […] The highest known density of individuals affected by cavernous malformation is in New Mexico, USA. The disproportionate number of affected individuals is because of a specific genetic mutation in the CCM1 gene, termed the Common Hispanic Mutation. […] In recent years, researchers identified two additional CCM2 gene founder mutations. One of the founder mutations runs in the Ashkenazi Jewish population, and another, a large deletion in the CCM2 gene, traces its ancestry to an originating family born in the southern United States in the 1700s or earlier.

• #28 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 malformations are angiographically occult, and when they are evident on angiograms, the findings are nonspecific. MRI has largely replaced conventional angiography in the diagnosis of cavernomas. However, when the lesions occur in combination with other types of vascular malformations, as they do in as many as 30% of patients with venous angiomas, MRI characteristics become more complicated and less specific. In these patients, angiography can help further define the lesions.

• #29 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.

• #30 Orphanet: Familial cerebral cavernous malformation

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

  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.

• #31 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 malformations are angiographically occult, and when they are evident on angiograms, the findings are nonspecific. MRI has largely replaced conventional angiography in the diagnosis of cavernomas. However, when the lesions occur in combination with other types of vascular malformations, as they do in as many as 30% of patients with venous angiomas, MRI characteristics become more complicated and less specific. In these patients, angiography can help further define the lesions.

• #32 Cerebral Cavernous Malformation, Familial

  https://vivo.health.unm.edu/display/n31896

  Evaluation of relatives at risk: Asymptomatic at-risk relatives of all ages may be evaluated by molecular genetic testing (if the family-specific pathogenic variant is known) to allow early diagnosis and monitoring of those at high risk of developing CCMs. […] Familial CCM is inherited in an autosomal dominant manner. […] Each child of an individual with FCCM has a 50% chance of inheriting the pathogenic variant.

• #33 Cavernous Malformations | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/c/cavernous-malformation

  Cavernous malformations occur in less than one in 1,000 births. Most children and adults with non-inherited cavernomas never have symptoms and often go undiagnosed. If an individual does have symptoms, they typically develop before the age of 30. […] Cavernous malformations affect all ethnic groups. Females and males have equal chance of having the disease. […] Approximately one in four cases of cavernous malformation are inherited. The remaining cases have no clear cause. […] Individuals with inherited cavernous malformations are more likely to have multiple cavernomas in the brain, increasing their risk of developing symptoms. Half of the people who inherit cavernous malformations will pass the condition on to their children. Non-inherited cases often result in just one cavernoma with few or no symptoms.

• #34 Cavernous Malformations | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/c/cavernous-malformation

  Cavernous malformations occur in less than one in 1,000 births. Most children and adults with non-inherited cavernomas never have symptoms and often go undiagnosed. If an individual does have symptoms, they typically develop before the age of 30. […] Cavernous malformations affect all ethnic groups. Females and males have equal chance of having the disease. […] Approximately one in four cases of cavernous malformation are inherited. The remaining cases have no clear cause. […] Individuals with inherited cavernous malformations are more likely to have multiple cavernomas in the brain, increasing their risk of developing symptoms. Half of the people who inherit cavernous malformations will pass the condition on to their children. Non-inherited cases often result in just one cavernoma with few or no symptoms.

• #35 EyeRounds.org:Intralenticular Foreign Body : 23 year-old male with staple in the eye

  https://webeye.ophth.uiowa.edu/eyeforum/cases/236-Cerebral-Cavernoma.htm

  Epidemiological statistics are dependent on the individual etiologies and their presence within specific patient populations. One-and-a-half syndrome is not known to be limited by age, sex, or race. […] Cavernoma: Prevalence: 0.4 – 0.9% (general population); Location: 80% supratentorial, 15% infratentorial, 5% spinal; 75% sporadic, 10-30% familial.

• #36 Cavernoma Surgery | Best Cavernoma Surgeon | Cavernous Malformation Brain | C.N.S. Neurosurgery

  https://www.cnsneurosurgery.com.au/resources/cavernous-malformation-cavernoma/

  One in 4 or 5 (i.e., 20-25% of all cavernomas) are found in the hindbrain (posterior fossa; infratentorial), especially in the pons region of the brainstem. […] They are not very common. Their prevalence (presence at any given time) in the population is probably somewhere between 0.1 0.5% (i.e., 1 in 200 to 1 in 1000 people in the general population); they are about as common as brain arteriovenous malformations (AVM), and far less common than brain aneurysms. […] The risk of hemorrhage from a cavernoma is somewhere between 0.5-1% per year. It may be greater (or at least easier felt symptomatically) in cavernomas located in more eloquent brain such as the basal ganglia, thalamus, brainstem, and spinal cord. The rehemorrhage rate varies in the literature, but is probably somewhere between 4-10% per year (some reports indicate an even higher rate in the first year or two following the first diagnosed cavernoma hemorrhage). It has been reported that they can become more symptomatic during pregnancy.

• #37 Spinal cord cavernous malformation | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/spinal-cord-cavernous-malformation?lang=us

  Spinal cord cavernomas are rare, representing ~5% of intramedullary lesions in adults and 1% of intramedullary lesions in children. […] Peak presentation is during the fourth decade, which is similar to the peak incidence of cerebral cavernomas. Females are more commonly affected than males.

• #38 Cerebral cavernous malformation: Management, outcomes, and surveillance strategies – A single centre retrospective cohort study – PubMed

  https://pubmed.ncbi.nlm.nih.gov/36608471/

  Cerebral cavernous malformations (CCM) may undergo a period of clinical and/or radiographical surveillance that precedes or follows definitive treatment. There are no international guidelines on the optimal surveillance strategy. This study describes the surveillance strategies at our centre and explore the related clinical outcomes. […] There remains heterogeneity, even within a single centre, on the frequency and modality of surveillance. Further, there are no international guidelines or high-quality data that recommends the optimal duration and frequency of surveillance, and its effect on clinical outcomes. This is a future research direction.

• #39 Cerebral cavernous malformation: Management, outcomes, and surveillance strategies – A single centre retrospective cohort study – PubMed

  https://pubmed.ncbi.nlm.nih.gov/36608471/

  Cerebral cavernous malformations (CCM) may undergo a period of clinical and/or radiographical surveillance that precedes or follows definitive treatment. There are no international guidelines on the optimal surveillance strategy. This study describes the surveillance strategies at our centre and explore the related clinical outcomes. […] There remains heterogeneity, even within a single centre, on the frequency and modality of surveillance. Further, there are no international guidelines or high-quality data that recommends the optimal duration and frequency of surveillance, and its effect on clinical outcomes. This is a future research direction.

• #40 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.

• #41 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.

• #42 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.

• #43 Cerebral Cavernous Malformation, Familial

  https://vivo.health.unm.edu/display/n31896

  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. […] 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. […] Surveillance: Brain MRI imaging with gradient echo (GRE) or susceptibility-weighted imaging (SWI) is indicated in individuals experiencing new neurologic symptoms.

• #44 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 malformations are angiographically occult, and when they are evident on angiograms, the findings are nonspecific. MRI has largely replaced conventional angiography in the diagnosis of cavernomas. However, when the lesions occur in combination with other types of vascular malformations, as they do in as many as 30% of patients with venous angiomas, MRI characteristics become more complicated and less specific. In these patients, angiography can help further define the lesions.

• #45 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.

• #46 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 malformations are angiographically occult, and when they are evident on angiograms, the findings are nonspecific. MRI has largely replaced conventional angiography in the diagnosis of cavernomas. However, when the lesions occur in combination with other types of vascular malformations, as they do in as many as 30% of patients with venous angiomas, MRI characteristics become more complicated and less specific. In these patients, angiography can help further define the lesions.

• #47 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.

• #48 Cavernous Malformation: Symptoms, Causes & Treatment Options

  https://njbrainspine.com/condition/cavernous-malformation/

  Cavernous malformations occur in 0.3-0.5% of the population and in 1/200 people between the ages of 30-50. […] Hemorrhage rates range from 0.5% to 6% annually; bleeding rates are higher in brainstem cavernomas or in those that had bled previously. […] Apart from surveillance of asymptomatic lesions, treatment is limited to surgery and is indicated in patients with hemorrhagic lesions, in those with intractable seizures or who have suffered from a neurological disability.

• #49

  https://link.springer.com/article/10.1007/s10143-021-01572-8

  Cavernoma or cavernous malformation (CM) is a benign non-shunting vascular malformation that is prone to bleed. They account for 5-15% of the central nervous system (CNS) vascular malformations and present with seizures, focal neurologic deficits (FND), or incidentally. Disease prevalence ranges from 0.4 to 0.8%. The overall annual bleeding risk is 2.4% patient/year. In previously unruptured CM, the bleeding risk is 0.3-2.8% patient/year, but the risk reaches 6.3-32.2% patient/year once the cavernoma bled. […] The main concern is the outcome of surgical treatment. There is a need to validate the quality of life of the patients after surgical resection of the cavernoma, especially in deep or eloquent areas. By reviewing the literature, we found many studies that assess the outcome after CNS cavernoma surgery and to a lesser extent after surgery of cavernomas located in eloquent regions. However, studies that assess the QoL are still rare. Only four studies assess the quality of life of these patients, including three studies that evaluated brainstem cases only.

• #50

  https://link.springer.com/article/10.1007/s10143-021-01572-8

  Cavernoma or cavernous malformation (CM) is a benign non-shunting vascular malformation that is prone to bleed. They account for 5-15% of the central nervous system (CNS) vascular malformations and present with seizures, focal neurologic deficits (FND), or incidentally. Disease prevalence ranges from 0.4 to 0.8%. The overall annual bleeding risk is 2.4% patient/year. In previously unruptured CM, the bleeding risk is 0.3-2.8% patient/year, but the risk reaches 6.3-32.2% patient/year once the cavernoma bled. […] The main concern is the outcome of surgical treatment. There is a need to validate the quality of life of the patients after surgical resection of the cavernoma, especially in deep or eloquent areas. By reviewing the literature, we found many studies that assess the outcome after CNS cavernoma surgery and to a lesser extent after surgery of cavernomas located in eloquent regions. However, studies that assess the QoL are still rare. Only four studies assess the quality of life of these patients, including three studies that evaluated brainstem cases only.

• #51 Stereotactic radiosurgery for haemorrhagic cerebral cavernous malformation: a multi-institutional, retrospective study | Stroke and Vascular Neurology

  https://svn.bmj.com/content/9/3/221

  Twenty-five per cent present with symptomatic, intracerebral haemorrhage (ICH). […] The 5-year risk of repeat haemorrhage is estimated to be as high as 30.8% in patients with brainstem CCM presenting with haemorrhage or focal neurological deficit (FND). […] Stereotactic radiosurgery (SRS) can be an alternative management option for patients with CCMs not amenable for resection. […] Despite several studies reporting a reduction in post-SRS haemorrhage rates, CCM radiosurgery remains a subject of controversy. […] The purpose of this study was to evaluate the safety and efficacy of single-session SRS for haemorrhagic CCM and to determine predictors of outcomes. […] The post-SRS annual haemorrhage rate (AHR) was calculated by dividing the cumulative number of haemorrhages by the cumulative number of contributed years of follow-up by each lesion.

• #52 Cavernous Malformation: Symptoms, Causes & Treatment Options

  https://njbrainspine.com/condition/cavernous-malformation/

  Cavernous malformations occur in 0.3-0.5% of the population and in 1/200 people between the ages of 30-50. […] Hemorrhage rates range from 0.5% to 6% annually; bleeding rates are higher in brainstem cavernomas or in those that had bled previously. […] Apart from surveillance of asymptomatic lesions, treatment is limited to surgery and is indicated in patients with hemorrhagic lesions, in those with intractable seizures or who have suffered from a neurological disability.

• #53 Stereotactic radiosurgery for haemorrhagic cerebral cavernous malformation: a multi-institutional, retrospective study | Stroke and Vascular Neurology

  https://svn.bmj.com/content/9/3/221

  The calculated pre-SRS AHR varied based on the methodology used; 3.31 per 100 CCM-years, 43.35 per 100 CCM-years, and 11.08 per 100 CCM-years. […] The post-SRS AHR was 2.7 per 100 CCM-years, with a total of 50 haemorrhages occurring over 1850.9 years of follow-up. […] There was a statistically significant reduction in haemorrhage rate post-SRS (8.33 per 100 CCM-years, 95% CI 6.67 to 10, p0.0001), when comparing pre-SRS and post-SRS. […] In the multivariate recurrent event analysis, SRS (HR 0.27, 95% CI 0.17 to 0.44, p0.0001) was associated with a significant reduction in haemorrhage rate. […] The presence of a DVA was associated with an increased risk of haemorrhage (HR 1.60, 95% CI 1.07 to 2.40, p=0.022). […] The 2-year, 5-year and 10-year cumulative probability of a new, post-SRS, first haemorrhage was 7.2%, 9.4% and 15.6%, respectively. […] The presence of a DVA (HR 1.60, p=0.022 with PWP-GT) as a risk factor for new haemorrhage after SRS is in accordance with the literature. […] Single-session SRS decreases the risk of repeat haemorrhage in haemorrhagic CCM.

• #54 Stereotactic radiosurgery for haemorrhagic cerebral cavernous malformation: a multi-institutional, retrospective study | Stroke and Vascular Neurology

  https://svn.bmj.com/content/9/3/221

  Cerebral cavernous malformations (CCMs) frequently manifest with haemorrhages. […] The aim of this study was to expand on the safety and efficacy of SRS for haemorrhagic CCM. […] The annual haemorrhagic rate (AHR) was calculated before and after SRS. […] The AHR from diagnosis to SRS excluding the first haemorrhage was 11.08 per 100 CCM-years and was reduced to 2.7 per 100 CCM-years after treatment. […] In recurrent event analysis, SRS, HR 0.27 (95% CI 0.17 to 0.44), p0.0001 was associated with a decreased risk of haemorrhage. […] The cumulative risk of first haemorrhage after SRS was 9.4% (95% CI 6% to 12.6%) at 5 years and 15.6% (95% CI% 9 to 21.8%) at 10 years. […] Single-session SRS for haemorrhagic CCM is associated with a decrease in haemorrhage rate. […] The prevalence of cerebral cavernous malformations (CCMs) is estimated between 0.2% and 0.5%.

• #55 Stereotactic radiosurgery for haemorrhagic cerebral cavernous malformation: a multi-institutional, retrospective study | Stroke and Vascular Neurology

  https://svn.bmj.com/content/9/3/221

  Cerebral cavernous malformations (CCMs) frequently manifest with haemorrhages. […] The aim of this study was to expand on the safety and efficacy of SRS for haemorrhagic CCM. […] The annual haemorrhagic rate (AHR) was calculated before and after SRS. […] The AHR from diagnosis to SRS excluding the first haemorrhage was 11.08 per 100 CCM-years and was reduced to 2.7 per 100 CCM-years after treatment. […] In recurrent event analysis, SRS, HR 0.27 (95% CI 0.17 to 0.44), p0.0001 was associated with a decreased risk of haemorrhage. […] The cumulative risk of first haemorrhage after SRS was 9.4% (95% CI 6% to 12.6%) at 5 years and 15.6% (95% CI% 9 to 21.8%) at 10 years. […] Single-session SRS for haemorrhagic CCM is associated with a decrease in haemorrhage rate. […] The prevalence of cerebral cavernous malformations (CCMs) is estimated between 0.2% and 0.5%.

• #56 Cavernous Malformations | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/c/cavernous-malformation

  Cavernous malformations occur in less than one in 1,000 births. Most children and adults with non-inherited cavernomas never have symptoms and often go undiagnosed. If an individual does have symptoms, they typically develop before the age of 30. […] Cavernous malformations affect all ethnic groups. Females and males have equal chance of having the disease. […] Approximately one in four cases of cavernous malformation are inherited. The remaining cases have no clear cause. […] Individuals with inherited cavernous malformations are more likely to have multiple cavernomas in the brain, increasing their risk of developing symptoms. Half of the people who inherit cavernous malformations will pass the condition on to their children. Non-inherited cases often result in just one cavernoma with few or no symptoms.

• #57 Cavernous hemangioma – Wikipedia

  https://en.wikipedia.org/wiki/Cavernous_hemangioma

  The true incidence of cavernous hemangiomas is difficult to estimate because they are frequently misdiagnosed as other venous malformations. Cavernous hemangiomas of the brain and spinal cord (cerebral cavernous hemangiomas (malformations) (CCM)), can appear at all ages, but usually occur in the third to fourth decade of the life of a person of either sex; CCM is present in 0.5% of the population. However, approximately 40% of those with malformations have symptoms. Asymptomatic affected individuals have usually developed the malformation sporadically, while symptomatic individuals have usually inherited the genetic mutation. 25% of cases of CCM are children. Approximately 5% of adults have liver hemangiomas in the United States, but most are asymptomatic. Liver hemangiomas usually occur between the ages of 30 and 50 and more commonly in women. Cases of infantile liver cavernomas are extremely rare. Cavernous hemangioma of the eye is more prevalent in women than men, usually between the ages of 20 and 40.

• #58 Cavernomas en niños con tumores cerebrales: una complicación tardía de la radioterapia

  http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S1130-14732008000100006

  Cavernomas in children with brain tumors: a late complication of radiotherapy. Delayed complications of radiation therapy comprise cerebral atrophy, radionecrosis and induction of tumors. Recent reports indicate the possibility of the „de-novo” formation of intracranial cavernomas in patients submitted to radiation therapy to the brain. The average interval from irradiation to the appearance of cavernoma was of 5.3 years (range 5-6 years). The three children will need both clinical and neuroimaging surveillance to monitor the evolution of these incidentally discovered lesions. Intracranial cavernomas can occur years after cerebral radiation therapy. Cavernomas may be found incidentally during the neuroimaging surveillance studies that are performed to children with brain tumors previously treated with radiotherapy. The estimated incidence of postirradiation cavernomas in our series was of 4.76% (3 of 63 children treated with radiotherapy for brain tumors).

• #59 Cavernomas en niños con tumores cerebrales: una complicación tardía de la radioterapia

  http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S1130-14732008000100006

  Cavernomas in children with brain tumors: a late complication of radiotherapy. Delayed complications of radiation therapy comprise cerebral atrophy, radionecrosis and induction of tumors. Recent reports indicate the possibility of the „de-novo” formation of intracranial cavernomas in patients submitted to radiation therapy to the brain. The average interval from irradiation to the appearance of cavernoma was of 5.3 years (range 5-6 years). The three children will need both clinical and neuroimaging surveillance to monitor the evolution of these incidentally discovered lesions. Intracranial cavernomas can occur years after cerebral radiation therapy. Cavernomas may be found incidentally during the neuroimaging surveillance studies that are performed to children with brain tumors previously treated with radiotherapy. The estimated incidence of postirradiation cavernomas in our series was of 4.76% (3 of 63 children treated with radiotherapy for brain tumors).

• #60 Incidence of cavernoma development in children after radiotherapy for brain tumors in: Journal of Neurosurgery: Pediatrics Volume 106 Issue 5 (2007) Journals

  https://thejns.org/pediatrics/view/journals/j-neurosurg-pediatr/106/5/article-p379.xml

  Cavernous hemangiomas (cavernomas) are benign vascular malformations that may cause seizures and/or hemorrhage when they develop in the brain. The incidence of cavernoma development after brain radiotherapy is unknown. The aim of this study was to assess the prevalence of cavernoma formation in patients who had previously received radiotherapy for brain tumors during childhood. […] Of the 379 patients identified, 297 satisfied the inclusion criteria. Ten patients (3.4%) developed cavernomas after radiation therapy. The ages of these patients ranged from 2 to 11 years at the time of radiotherapy (median 7 years), and the latency interval between radiotherapy and cavernoma development was 3 to 102 months (median 37 months). […] The prevalence of cavernomas in the present study was more than six times greater than the prevalence rate cited in the literature for this population. The authors conclude that there is an increased risk of developing an intracranial cavernoma after radiotherapy for brain tumors. The possibility of this complication arising should be mentioned when informed consent is sought before treatment using radiotherapy.

• #61 Incidence of cavernoma development in children after radiotherapy for brain tumors in: Journal of Neurosurgery: Pediatrics Volume 106 Issue 5 (2007) Journals

  https://thejns.org/pediatrics/view/journals/j-neurosurg-pediatr/106/5/article-p379.xml

  Cavernous hemangiomas (cavernomas) are benign vascular malformations that may cause seizures and/or hemorrhage when they develop in the brain. The incidence of cavernoma development after brain radiotherapy is unknown. The aim of this study was to assess the prevalence of cavernoma formation in patients who had previously received radiotherapy for brain tumors during childhood. […] Of the 379 patients identified, 297 satisfied the inclusion criteria. Ten patients (3.4%) developed cavernomas after radiation therapy. The ages of these patients ranged from 2 to 11 years at the time of radiotherapy (median 7 years), and the latency interval between radiotherapy and cavernoma development was 3 to 102 months (median 37 months). […] The prevalence of cavernomas in the present study was more than six times greater than the prevalence rate cited in the literature for this population. The authors conclude that there is an increased risk of developing an intracranial cavernoma after radiotherapy for brain tumors. The possibility of this complication arising should be mentioned when informed consent is sought before treatment using radiotherapy.

• #62 Cavernomas en niños con tumores cerebrales: una complicación tardía de la radioterapia

  http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S1130-14732008000100006

  The incidence of radiation-induced cavernomas in our experience was of 3 out of 63 (4.76%) children irradiated for brain tumors, which is in agreement with the incidence reported by others that ranged between 2.15% and 3.4%. A higher incidence (31%) of cavernomas after cranial irradiation has been reported in children treated of medulloblastoma.

• #63 Cavernomas en niños con tumores cerebrales: una complicación tardía de la radioterapia

  http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S1130-14732008000100006

  The incidence of radiation-induced cavernomas in our experience was of 3 out of 63 (4.76%) children irradiated for brain tumors, which is in agreement with the incidence reported by others that ranged between 2.15% and 3.4%. A higher incidence (31%) of cavernomas after cranial irradiation has been reported in children treated of medulloblastoma.

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

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

  Children with cavernous malformations face unique treatment challenges due to factors such as the malformation’s location, size, risk of bleeding, and the complexities of pediatric tissue development. […] The Cerebrovascular Surgery and Interventions Center not only helped Hudson but also revealed a possible hereditary link to his cavernous malformations. […] Their research finds that in addition to diagnosing FCCMs through clinical findings, imaging, and family history, genetic testing can identify pathogenic variants in genes such as KRIT1, CCM2, and PDCD10. 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.

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

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

  Children with cavernous malformations face unique treatment challenges due to factors such as the malformation’s location, size, risk of bleeding, and the complexities of pediatric tissue development. […] The Cerebrovascular Surgery and Interventions Center not only helped Hudson but also revealed a possible hereditary link to his cavernous malformations. […] Their research finds that in addition to diagnosing FCCMs through clinical findings, imaging, and family history, genetic testing can identify pathogenic variants in genes such as KRIT1, CCM2, and PDCD10. 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.

• #66 Genetics of Cavernous Malformation – Alliance to Cure Cavernous Malformation

  https://www.alliancetocure.org/genetics/genetics-of-cavernous-angioma/

  CCM3 gene mutations cause a uniquely aggressive form of the illness that requires special consideration. Individuals with CCM3 gene mutations are more likely to be diagnosed as children, hemorrhage at an early age, develop high numbers of lesions, and may also experience scoliosis, cognitive disability, benign brain tumors, and/or skin lesions. […] Clinical genetic testing is routinely available and recommended for individuals with family history and/or multiple cavernous malformation lesions that can’t be explained by the presence of a DVA or a history of radiation.

• #67 Genetics of Cavernous Malformation – Alliance to Cure Cavernous Malformation

  https://www.alliancetocure.org/genetics/genetics-of-cavernous-angioma/

  CCM3 gene mutations cause a uniquely aggressive form of the illness that requires special consideration. Individuals with CCM3 gene mutations are more likely to be diagnosed as children, hemorrhage at an early age, develop high numbers of lesions, and may also experience scoliosis, cognitive disability, benign brain tumors, and/or skin lesions. […] Clinical genetic testing is routinely available and recommended for individuals with family history and/or multiple cavernous malformation lesions that can’t be explained by the presence of a DVA or a history of radiation.

• #68 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.

• #69 Incidence of cavernoma development in children after radiotherapy for brain tumors in: Journal of Neurosurgery: Pediatrics Volume 106 Issue 5 (2007) Journals

  https://thejns.org/pediatrics/view/journals/j-neurosurg-pediatr/106/5/article-p379.xml

  Cavernous hemangiomas (cavernomas) are benign vascular malformations that may cause seizures and/or hemorrhage when they develop in the brain. The incidence of cavernoma development after brain radiotherapy is unknown. The aim of this study was to assess the prevalence of cavernoma formation in patients who had previously received radiotherapy for brain tumors during childhood. […] Of the 379 patients identified, 297 satisfied the inclusion criteria. Ten patients (3.4%) developed cavernomas after radiation therapy. The ages of these patients ranged from 2 to 11 years at the time of radiotherapy (median 7 years), and the latency interval between radiotherapy and cavernoma development was 3 to 102 months (median 37 months). […] The prevalence of cavernomas in the present study was more than six times greater than the prevalence rate cited in the literature for this population. The authors conclude that there is an increased risk of developing an intracranial cavernoma after radiotherapy for brain tumors. The possibility of this complication arising should be mentioned when informed consent is sought before treatment using radiotherapy.

• #70 Genetics of Cavernous Malformation – Alliance to Cure Cavernous Malformation

  https://www.alliancetocure.org/genetics/genetics-of-cavernous-angioma/

  Cavernous malformations (also known as cavernous angioma or cavernoma) can occur either sporadically, or they may run in families and be inherited due to a genetic mutation. […] In general, cavernous malformations can develop at any age and are present in males and females in equal numbers. Importantly, all ethnic populations are susceptible to the development of a CCM and to familial forms of the illness. […] The highest known density of individuals affected by cavernous malformation is in New Mexico, USA. The disproportionate number of affected individuals is because of a specific genetic mutation in the CCM1 gene, termed the Common Hispanic Mutation. […] In recent years, researchers identified two additional CCM2 gene founder mutations. One of the founder mutations runs in the Ashkenazi Jewish population, and another, a large deletion in the CCM2 gene, traces its ancestry to an originating family born in the southern United States in the 1700s or earlier.

• #71 Cavernoma Surgery | Best Cavernoma Surgeon | Cavernous Malformation Brain | C.N.S. Neurosurgery

  https://www.cnsneurosurgery.com.au/resources/cavernous-malformation-cavernoma/

  One in 4 or 5 (i.e., 20-25% of all cavernomas) are found in the hindbrain (posterior fossa; infratentorial), especially in the pons region of the brainstem. […] They are not very common. Their prevalence (presence at any given time) in the population is probably somewhere between 0.1 0.5% (i.e., 1 in 200 to 1 in 1000 people in the general population); they are about as common as brain arteriovenous malformations (AVM), and far less common than brain aneurysms. […] The risk of hemorrhage from a cavernoma is somewhere between 0.5-1% per year. It may be greater (or at least easier felt symptomatically) in cavernomas located in more eloquent brain such as the basal ganglia, thalamus, brainstem, and spinal cord. The rehemorrhage rate varies in the literature, but is probably somewhere between 4-10% per year (some reports indicate an even higher rate in the first year or two following the first diagnosed cavernoma hemorrhage). It has been reported that they can become more symptomatic during pregnancy.

• #72 Cerebral cavernous malformation: Management, outcomes, and surveillance strategies – A single centre retrospective cohort study – PubMed

  https://pubmed.ncbi.nlm.nih.gov/36608471/

  Cerebral cavernous malformations (CCM) may undergo a period of clinical and/or radiographical surveillance that precedes or follows definitive treatment. There are no international guidelines on the optimal surveillance strategy. This study describes the surveillance strategies at our centre and explore the related clinical outcomes. […] There remains heterogeneity, even within a single centre, on the frequency and modality of surveillance. Further, there are no international guidelines or high-quality data that recommends the optimal duration and frequency of surveillance, and its effect on clinical outcomes. This is a future research direction.

• #73

  https://link.springer.com/article/10.1007/s10143-021-01572-8

  Cavernoma or cavernous malformation (CM) is a benign non-shunting vascular malformation that is prone to bleed. They account for 5-15% of the central nervous system (CNS) vascular malformations and present with seizures, focal neurologic deficits (FND), or incidentally. Disease prevalence ranges from 0.4 to 0.8%. The overall annual bleeding risk is 2.4% patient/year. In previously unruptured CM, the bleeding risk is 0.3-2.8% patient/year, but the risk reaches 6.3-32.2% patient/year once the cavernoma bled. […] The main concern is the outcome of surgical treatment. There is a need to validate the quality of life of the patients after surgical resection of the cavernoma, especially in deep or eloquent areas. By reviewing the literature, we found many studies that assess the outcome after CNS cavernoma surgery and to a lesser extent after surgery of cavernomas located in eloquent regions. However, studies that assess the QoL are still rare. Only four studies assess the quality of life of these patients, including three studies that evaluated brainstem cases only.

• #74

  https://link.springer.com/article/10.1007/s10143-021-01572-8

  At a late follow-up, the surgical morbidity was transient in the NEG and mostly recovered in the EG (85.4% of patients). Regarding QoL, patients after eloquent cavernoma resection reported a non-inferior QoL in most SF12 domains (except for physical role RP) compared to NEG. However, they reported general health perception inferior to norms, which was affected by the limited physical and emotional roles. These results of how these patients are doing years after surgery could improve the decision-making as well as the patient counseling for future encountered cases of cavernomas in eloquent and non-eloquent regions. When reporting the neurosurgical outcome after CNS cavernoma resection, the QoL outcome is an essential measurement. For future studies, preoperative QoL measurements for the assessment of QoL dynamics are highly recommended.

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