Materiały źródłowe

• #1 Health Information Library | Rumah Sakit Pusat Pertamina

  https://rspp.co.id/dcontent.html?id=CON-20301691&n=Central%20nervous%20system%20vascular%20malformations

  Central nervous system vascular malformations are rare issues with the blood vessels in the brain or spinal cord and their coverings, called membranes. […] The cause of central nervous system vascular malformations is unclear. Some are present at birth, called congenital. Others come later. […] Some genetic conditions can increase the risk of having vascular malformation. Injury to the central nervous system might be another cause.

• #2 Central nervous system vascular malformations: A clinical review

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7886037/

  CNS vascular malformation is an umbrella term that encompasses a wide variety of pathologies, with a wide range of therapeutic and diagnostic importance. […] The key pathology underlying vascular malformations is impairment in integrity of capillary, venous, and arterial beds. This loss of integrity can be due to external causes such as mechanical injuries and/or defects in vascular development during angiogenesis, vessel growth, and maturation. […] Various factors such as vascular endothelial growth factors, fibroblast growth factors, platelet-derived growth factors, and angiopoietins act in concert to regulate angiogenesis. Alterations in the complex interactions between these factors can lead to the development, progression, and regression of vascular malformations. […] In the last decades, the genetic basis of several CNS vascular malformations has been further explained. Certain vascular malformations classically present in an autosomal dominant fashion such as familial cases of cavernous malformation, hereditary hemorrhagic telangiectasia, and capillary malformation-arteriovenous malformation as detailed later in this article.

• #3 Vascular Malformations: Symptoms, Treatment and Outlook

  https://my.clevelandclinic.org/health/diseases/23409-vascular-malformations

  Most vascular malformations are a result of localized or regional abnormal development of vascular and/or lymphatic channels which develop in utero. They are typically present at birth (congenital). […] Less commonly, an injury in which there’s unrecognized damage to the vessels can over time develop into a vascular malformation. An injury or hormonal changes during puberty or pregnancy can make venous malformations noticeable for the first time. […] In a small number of cases, people inherit genetic changes (mutations) that make vascular malformations more likely. Researchers are still learning more about these genetic causes.

• #4 Central nervous system vascular malformations: A clinical review

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7886037/

  However, the vast majority of vascular malformation occurs sporadically. Several genetic variants have been identified that can render individuals susceptible to vascular malformation formation and complications. […] Endoglin, activin-like kinase (ALK) receptor 1, somatic-activating KRAS, and RASA1 gene are among the identified genes contributing to CNS vascular malformations. […] Multiple hypotheses have been proposed on the etiology of AV malformations including; retained embryonic vascular connections, vascular changes due to inflammatory responses, and a poorly defined role for elevated vascular endothelial growth factor. […] There are contemporary reports of de novo formation postnatally and into adulthood with underlying dysregulated angiogenesis with genetic underpinning as the etiology. […] The most common presentation is intracranial hemorrhage. The annual risk of an AVM rupture in HHT patients has been estimated to be 0.36% to 1.02% per year.

• #5 Vascular Malformations of the Brain and Spine in Children | PM&R KnowledgeNow

  https://now.aapmr.org/vascular-malformations-of-the-brain-and-spine-in-children/

  AVMs are thought to have multifactorial causes, including genetic manipulation and angiogenic stimulation. […] AVMs follow an autosomal dominant inheritance pattern in a heterozygous matter. […] The homozygous forms are lethal. […] Multiple candidate genes and pathways have been identified for the genetic basis of intracranial AVMs, such as endoglin (ENG) on chromosome 9q and activin-receptor-like kinase (ALK1) on chromosome 12q. […] In addition, genetic anomalies have been found to increase the risk of AVM rupture. […] In particular, matrix metalloproteinase-9 (MMP-9) alterations can compromise vascular stability and lead to irregular angiogenesis.

• #5 Vascular Malformations of the Brain and Spine in Children | PM&R KnowledgeNow

  https://now.aapmr.org/vascular-malformations-of-the-brain-and-spine-in-children/

  In general, the etiology of AVMs is complicated and not well understood. […] It was originally thought that AVMs arise due to failure around the third week of embryogenesis in the differentiation of vascular channels into mature arteries, capillaries, and veins. […] However, as AVMs are rarely detected in utero or found in infants, some researchers suggest that AVMs develop later in life. […] Studies have also shown that AVMs may arise postnatally. […] Most theories suggest either persistence of a primitive arteriovenous connection or the development of such after the initial closure of the primitive connection. […] Other theories suggest that AVMs develop due to deranged vessel growth, remodeling dysfunction at the capillary-venous junction, or fistulization of cerebral venous angiomas.

• #6

  https://www.jci.org/articles/view/172837

  In these noninherited AVMs, the important MAPK signaling cascade plays a crucial and pathogenic role. […] In extracranial AVMs, somatic mutations in MAP2K1, encoding MEK1, have been detected in 64% of patients. […] These mutations, typically missense or small in-frame deletions, affect the negative regulatory domain of MEK1, resulting in its increased activity. […] BRAF, KRAS, and HRAS mutations have also been described in extracranial AVMs. […] Inherited AVMs are caused by loss-of-function mutations in proteins affecting the MAPK pathway (RAS p21 protein activator 1 [RASA1]/EPHB4), phosphatase and tensin homolog (PTEN), or the TGF-/bone morphogenic protein (BMP) pathway (endoglin [ENG], ACVRL1, SMAD4, GDF2/BMP9).

• #6

  https://www.jci.org/articles/view/172837

  Anomalies during angiogenesis can initiate the formation of arteriovenous malformations (AVMs), characterized by aberrant connections between arteries and veins and fast lesional blood flow. […] AVMs are thought to be congenital, arising from developmental errors during vasculogenesis. […] Although the congenital nature of some AVMs cannot be denied, as observed in extensive pediatric peripheral lesions, not all AVMs may have a prenatal origin. […] Animal models have shown that postnatal activation of KRAS mutations in endothelial cells (ECs) may cause AVMs. […] Observations of secondary central nervous system AVFs after venous thrombosis have been published. […] Whether some extracranial AVMs may appear spontaneously over time remains unelucidated. […] The majority of AVMs arise sporadically as isolated lesions.

• #7 Arteriovenous malformation – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/arteriovenous-malformation/symptoms-causes/syc-20350544

  In an arteriovenous malformation, also known as an AVM, blood passes quickly from an artery to a vein, disrupting the usual blood flow and depriving the surrounding tissues of oxygen. […] An arteriovenous malformation, also known as an AVM, is a tangle of blood vessels that creates irregular connections between arteries and veins. This disrupts blood flow and prevents tissues from receiving oxygen. […] The cause of AVMs is not clear. Rarely, they are passed down in families. […] An arteriovenous malformation happens when arteries and veins connect in an irregular way. Experts don’t understand why this happens. Certain genetic changes might play a role, but most types are not usually passed down in families. […] Rarely, having a family history of an arteriovenous malformation can increase your risk. But most types aren’t inherited. […] Certain hereditary conditions can increase your risk of an arteriovenous malformation. These include hereditary hemorrhagic telangiectasia, also known as Osler-Weber-Rendu syndrome.

• #8 Arteriovenous Malformations (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/arteriovenous-malformations.html

  Arteriovenous malformations are a type of vascular malformation (also called vascular anomalies) that happen when blood vessels do not develop normally. […] Doctors don’t know what causes AVMs. Kids who have them are born with them, and an AVM might get larger as the child grows. […] AVMs can happen with some genetic syndromes, including: Cobb syndrome, hereditary hemorrhagic telangiectasia (HHT), Parkes Weber syndrome, and Wyburn-Mason syndrome.

• #9 Arteriovenous Malformations of the Central Nervous System | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/17848

  Though the exact mechanism of AVM formation is not fully understood, they are believed to form secondary to an abnormal arrest during embryologic vascular development. Approximately 5% of AVMs are identified in patients with inherited disorders such as autosomal dominant hereditary hemorrhagic telangiectasia, also known as Osler-Weber-Rendu syndrome. […] Multiple genetic mutations have been noted in patients with sporadic AVMs, including somatic activating KRAS mutations, the stop-gain mutation in SMAD9, and an increase in Notch-3 receptor expression. […] Increased KRAS activity leads to increased MAPK/ERK pathway activity with downstream elevations in Notch signaling and angiogenesis factors. […] AVMs also occur within the spinal canal, comprising 3% to 4% of all space-occupying spinal lesions and 5% to 9% of all central nervous system vascular malformations. […] Other genetic syndromes with a predisposition to spinal AVMs are Klippel-Trenaunay syndrome, Parkes-Weber Syndrome, and the spinal arteriovenous metameric Cobb Syndrome.

• #10 Von Hippel-Lindau Disease and Vascular Tumours

  https://www.surgical-neurology.com/tumours/von-hippel-lindau-disease-and-vascular-tumours

  VHL is genetic condition predisposing to vascular tumours of the nervous system and forms a significant element of our practice. […] Approximately 20% of central nervous system haemangioblastomas occur in patients affected by Von Hippel-Lindau disease (VHL). This is a condition resulting from mutation of a gene on the short arm of chromosome 3. The mutation is inherited in 80% of cases but occurs de-novo in 20%. […] VHL causes a variety of tumours to develop in various locations throughout the body. […] Deactivation of the VHL gene result in activation of a factor called hypoxia-inducible factor 2-alpha (HIF-2) amongst other things. Inhibition of HIF-2 can impede the growth of VHL associated tumours including Haemangioblastomas.

• #11 Arteriovenous Malformations and Fistulas (AVM/AVF) of the Spinal Cord: Practice Essentials, Background, History of the Procedure

  https://emedicine.medscape.com/article/248456-overview

  Vascular lesions of the brain and spinal cord are commonly encountered in clinical practice and can lead to diagnostic, prognostic, and therapeutic challenges. Central nervous system (CNS) vascular malformations encompass a wide range of arterial and venous anomalies with various presentations, a variable clinical course, and a variety of complication rates. Spinal vascular malformations consist of an abnormal connection between normal arterial and venous pathways. These malformations do not benefit from intervening capillaries. As a result, venous pressure is increased and the individual is predisposed to ischemia or hemorrhage. […] The etiology of vascular malformations of the spinal cord has not been clearly defined. Intradural parenchymal malformations often occur in a younger patient population and are believed to be congenital. Spinal arterial dural fistulas commonly arise in an elderly population and are believed to be due to a traumatic occurrence. These vascular malformations develop near a spinal dural artery, forming an abnormal arteriovenous communication with the venous circulation.

• #12 Vascular Malformations of the Central Nervous System | Thoracic Key

  https://thoracickey.com/vascular-malformations-of-the-central-nervous-system/

  Some authors (Mullan et al. 1996a, b) have suggested that AVMs could already be present before the third month of gestation. […] These observations raise doubts about the congenital nature of cerebral AVMs, which at least in some cases seem to be acquired lesions caused by different nonspecific insults on the brain.

• #13 Brain arteriovenous malformations – UpToDate

  https://www.uptodate.com/contents/brain-arteriovenous-malformations

  Brain arteriovenous malformations (AVMs) are the most dangerous of the cerebrovascular malformations with the potential to cause intracranial hemorrhage and epilepsy in many cases. […] The pathogenesis of brain AVMs is not well understood. Traditionally, brain AVMs were considered sporadic congenital developmental vascular lesions, but this notion has been disputed by many well-documented reports of de novo brain AVM formation. […] The most common genetic cause of brain AVMs is hereditary hemorrhagic telangiectasia (HHT; Osler-Weber-Rendu syndrome), an autosomal dominant condition. […] Genetic variation may influence brain AVM development and clinical course. […] Rare cases of familial brain AVMs have been reported but it is unclear if these are coincidental or indicate true familial occurrence.

• #14 Atlas of Nervous System Vascular Malformations: A Systematic Review

  https://www.mdpi.com/2075-1729/12/8/1199

  Vascular malformations are believed to be derived from alterations in the angiogenesis process during the embryonic stage, as well as from alterations in the development of the vessels during the extrauterine life. […] They are generally derived from germline or somatic genetic alterations. […] The etiology derived from de novo mutations has been related to differences in enteric microbiome, as it has been observed that patients with CAs have a higher proportion of Gram-negative bacteria, among which Odoribacter splanchnicus stands out, and a lower ratio of Gram-positive bacteria, such as Faecalibacterium prausnitzii and Bifidobacterium adolescencia. […] AVMs are derived from somatic mutations of the KRAS, NRAS, HRAS, BRAF, and MAP2K1 genes. […] The progress made in the identification and characterization of the various genetic alterations that make up the etiology of vascular malformations has allowed better understanding of their pathophysiology while providing a better outlook for developing approach options that are mainly based on molecules that regulate gene expression and therapies.

• #15 Brain Vascular Malformation Symptoms & Treatment | Pacific Stroke & Neurovascular Center

  https://www.pacificneuroscienceinstitute.org/stroke-neurovascular/conditions-and-treatments/brain-vascular-malformation/

  When a brain vascular malformation, such as cavernoma or AVM, is diagnosed, the exact reasons that led to the development of the lesion are not currently known. […] Sometimes a person can inherit a tendency to form these vascular lesions due to abnormalities in the structure of blood vessels or altered inflammatory responses. […] It is thought that the same risk factors that lead other vascular lesions (like brain aneurysms) to rupture, are likely to also be associated with increased rupture risk in vascular malformations, although this is often more difficult to study because of a smaller number of patients with these diagnoses. […] Other risk factors can include high blood pressure and smoking. […] One thing that has been clearly shown is that symptomatic vascular masses that have bled in the past are at higher risk of bleeding again in the future.

• #16 Central Nervous System Vascular Malformations: A Patient’s Guide

  https://www.massgeneral.org/neurosurgery/treatments-and-services/vascular-malformations-patient-guide

  The purpose of this text is to provide patients who are diagnosed with central nervous system vascular malformations with some background information regarding the nature of their diagnosis and various treatments. […] There are typically four distinct types of vascular malformations which may occur throughout the central nervous system, and these will be discussed separately. […] True arteriovenous malformations (AVMs) are the most significant lesions from the clinical point of view. […] In the situation where an AVM exists, blood is shunted directly from the arterial system to the venous system. […] This elevated pressure may well contribute to hemorrhages or seizures, which occur with AVMs. […] AVMs can occur in many locations throughout the brain and spinal cord.

• #17 Arteriovenous Malformation (AVM): Causes & Symptoms

  https://my.clevelandclinic.org/health/diseases/16755-arteriovenous-malformation-avm

  An arteriovenous malformation (AVM) is an abnormal tangle of blood vessels that looks like a birds nest. The tangle is made of arteries that would normally provide blood to your brain and veins that would normally drain blood from brain tissue. […] Scientists arent sure what causes arteriovenous malformations. They believe that youre born with them and that they likely develop during fetal development (theyre congenital). AVMs may be hereditary (run in families) in rare cases. […] AVMs cause harm in the following ways: Bleeding. The force of the blood flow from your arteries brings a lot of pressure to the AVM. Veins have weak walls and cant always adjust to the pressure of blood flow. If your veins cant handle the blood pressure, they might burst and bleed. […] AVMs can cause health issues other than bleeds. Some AVMs that grow and become large can press on an area of tissue and cause tissue damage, nerve cell damage and other cell damage in that area. If large enough and in a vital area, the lack of capillaries between your arteries and veins can cause a lack of oxygen, nutrients and waste exchange in tissue in this area. This can lead to tissue death. […] Yes, they can be. How deadly or severe an arteriovenous malformation might be depends on its size and location. A massive bleed from a ruptured AVM in your brain can be fatal. However, some people have AVMs and never have any symptoms or health problems.

• #18 Genetic and epigenetic mechanisms in the development of arteriovenous malformations in the brain | Clinical Epigenetics | Full Text

  https://clinicalepigeneticsjournal.biomedcentral.com/articles/10.1186/s13148-016-0248-8

  Vascular malformations are developmental congenital abnormalities of the vascular system which may involve any segment of the vascular tree such as capillaries, veins, arteries, or lymphatics. […] The causative factor and pathogenic mechanisms of AVMs are unknown. Importantly, no marker proteins have been identified for AVM. […] AVM is considered to develop because of variability in the hemodynamic forces of blood flow. […] The causes for development of AVMs in the human brain are still elusive. It is widely speculated that altered hemodynamic forces at the junction of an artery and a vein might provoke the development of AVM and hemodynamic forces may be the critical epigenetic regulator in deciding the endothelial fate. […] All existing studies suggest that the abrupt changes in the hemodynamic flow in the junction of arteriovenous blood vessels might strongly influence the epigenetic mediators and eventually lead to the development of AVM.

• #19

  https://homeopathyaajtak.in/diseases/c/central-nervous-system-vascular-malformations-320

  Central nervous system vascular malformations are rare abnormalities of blood vessels in your brain or spinal cord and their membranes. […] There are several types of central nervous system vascular malformations, including: […] Arteriovenous malformations are abnormal tangles of blood vessels connecting arteries and veins. AVMs may occur anywhere in the body but most often occur in or near the brain or the spine. […] Capillary telangiectasias are small dilated blood vessels (capillaries). […] Cavernous malformations are abnormally formed blood vessels in your brain or spinal cord that have the appearance of a mulberry. […] Dural arteriovenous fistulas are abnormal connections between arteries and the tough covering over the brain or spinal cord (dura) and a draining vein. […] Venous malformations, also known as developmental venous anomalies, are abnormally enlarged veins in your brain or spinal cord.

• #20 Vascular Malformations of the Brain | Peter O’Donnell Jr. Brain Institute | Condition | UT Southwestern Medical Center

  https://utswmed.org/conditions-treatments/vascular-malformations-of-the-brain/

  Vascular malformations of the brain occur when the brains blood vessels develop abnormally, a condition that is usually congenital (present at birth). The condition includes abnormalities with veins and arteries that alter the normal flow of blood in the brain. […] The most common types of vascular malformations are: […] Arteriovenous malformations (AVMs): The development of abnormal arteries and veins that bypass the normal capillary system in the brain […] Cavernomas (also known as cavernous malformations): A cluster of abnormal, enlarged blood vessels that resembles dilated veins […] Dural arteriovenous fistula (DAVF): A type of AVM that involves a direct connection between arteries and veins but without a nest of abnormal vessels (or nidus) like AVMs […] Venous angiomas: Enlarged veins that drain a normal segment of the brain.

• #21 Vascular Malformations > Fact Sheets > Yale Medicine

  https://www.yalemedicine.org/conditions/vascular-malformations

  Vascular malformations are a result of the abnormal growth and development of a single type of vessel or a combination of vessels. […] Many types of vascular malformations don’t cause symptoms until they are triggered by such events as adolescence, pregnancy, or some major surgery, trauma or injury. […] Fast-flow arteriovenous malformations develop as the result of an abnormal connection between arteries that supply the body’s organs, and the veins, which drain them. […] There are several congenital mixed syndromes that involve vascular malformations. […] Treatment varies, depending on the type of blood vessel that is involved, the type of vascular malformation or syndrome, and the overall health of the patient. […] Unfortunately, vascular malformations can come back.

• #22 Arteriovenous Malformations (AVM) | Living With Paralysis

  https://www.christopherreeve.org/todays-care/living-with-paralysis/health/causes-of-paralysis/arteriovenous-malformations/

  The cause of a sAVM or other AVM is unknown. At one time AVMs were thought to be a congenital abnormality meaning they occur during development of the fetus. This theory is being challenged. Current theories about AVM formation are that they are genetic or have a family tendency. Still others think they may be due to some neurological event like an undetected, small stroke. […] Research of AVMs is very active. Researchers are looking at the source of AVMs. They are attempting to differentiate if they develop in the fetal stage, the genetics links, or if there is a cause that is yet unknown. Once a cause or the source of a problem is understood, methods to prevent and treat it can be developed. […] Another line of research is to determine if and when AVMs should be surgically treated. The investigators are attempting to look at outcomes, especially mortality, to see if surgery should be attempted or not. Much of this depends on the location of the sAVM. […] There are various types of surgical techniques that can be used to treat sAVMs. Each of these techniques are being investigated for outcomes to match the best treatment plan for each type of sAVM.

Zobacz więcej