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Familial Cerebral Arteriovenous Malformations

CAMS

The cerebral arteriovenous malformation is a vascular condition characterized by the presence of abnormal, direct connections between the cerebral arterial and venous circulatory system, thus bypassing the capillaries.


Presentation

A small group of people with cerebral arteriovenous malformations (CAVMs) remain asymptomatic and are diagnosed accidentally [1]. However, a vast majority of patients present with symptoms ranging from mild headaches to severe life-threatening hemorrhages [2].

The most common feature in CAVMs is intracerebral hemorrhage, being present in nearly 50% of patients with this disease. These hemorrhages result from rupture of the abnormal arteriovenous connections in the brain. The annual risk of rupture is 2-4%, but it may be as high as 30% in a few patients [3].

Seizures are the second-most common clinical feature seen in these patients, being present in about 15-40% of the diseased population [4] [5]. Around 10-50% patients may present with headaches [6]. There are no specific patterns to the seizures and headaches in these patients, owing to the heterogeneity in location and function of the CAVMs [7].

Based on the location of the CAVMs, patients may present with certain other neurological features, which include: motor deficits like muscle weakness, sensory deficits in the form of numbness, pain, and paresthesias, memory and learning disabilities, ataxia, apraxia, aphasia, vision abnormalities, dizziness, mental confusion, and hallucinations.

Vascular Disease
  • This highlights the clinical potential of microRNA as a treatment for AVM and other vascular diseases.[ncbi.nlm.nih.gov]
  • Unterklasse von rare genetic vascular tumor, rare nervous system tumor, neurovascular malformation, rare genetic epilepsy, genetic central nervous system and retinal vascular disease, central nervous system organ benign neoplasm, Hämangiom, Enzephalopathie[commons.wikimedia.org]
  • AVMs are a complex vascular disease, requiring specialized team and the latest imaging technology to effectively treat them.[stanfordhealthcare.org]
  • Familial vascular diseases are rarely diagnosed in the perinatal period.[mrineonatalbrain.com]
  • Occlusive vascular disease associated with cerebral arteriovenous malformations. Radiology 1984;153:401-8. [ PubMed ] Mandybur TI, Nazek M. Cerebral arteriovenous malformations. A detailed morphological and immunohistochemical study using actin.[tcr.amegroups.com]
Blurred Vision
  • Symptoms Brain AVMs can bleed in the brain in which case patients may have a severe headache, nausea and vomiting, blurred vision, stiff neck, or loss of consciousness. They can also cause seizures.[ucdenver.edu]
  • vision Seizures (fits) Muscle weakness in any part of the body Decreased sensation in any part of the body Sleepiness, lethargy, disorientation, irritability Stiff neck Treatment A bleeding AVM is a medical emergency and requires immediate hospitalization[brainfoundation.org.au]
  • Symptoms due to bleeding include loss of consciousness, sudden and severe headache, nausea, vomiting, incontinence, and blurred vision, amongst others.[en.wikipedia.org]
  • The most frequently observed problems related to an AVM are: Headache Seizure Symptoms of intracranial hemorrhage may be present which include: Loss of consciousness Nausea Vomiting Incontinence Blurred vision Hemiparesis Aphasia A loss of touch sensation[wikidoc.org]
Pulsatile Tinnitus
  • MRI is the examination of choice in patients with chronic headaches, seizure disorders of unknown etiology, and pulsatile tinnitus (among other conditions).[emedicine.medscape.com]
  • Symptoms of an AVM that is bleeding are: Confusion Ear noise/buzzing (also called pulsatile tinnitus) Headache in one or more parts of the head, may seem like a migraine Problems walking Seizures Symptoms due to pressure on one area of the brain include[nlm.nih.gov]
  • Other complications Although pulsatile tinnitus is a celebrated feature of AVMs, in particular those affecting the dura mater, it is in fact unusual ( Sabra, 1959 ).[doi.org]
Seizure
  • Approximately 50% of patients experience elimination of seizures, and the remainder have a decreased frequency of seizures. Elimination of seizures is more likely if the patient has not had seizures for many years.[emedicine.medscape.com]
  • The primary goal of surgical treatment is to prevent hemorrhage, although seizure control may also sometimes be achieved through microsurgical resection.[whhs.com]
  • AVMs as mentioned previously, may also present with new onset seizures. Seizures resulting from AVMs often occur after the age of twenty.[skullbaseinstitute.com]
  • They can also cause seizures. They may also cause stroke-like symptoms such as paralysis, weakness, numbness, vision problems, balance or coordination problems, or speech difficulties.[ucdenver.edu]
  • The median time to seizur post-Onyx was seven days (range 0.3-210). Four patients (20%) with seizures post-Onyx had no seizure history. Two of these patients (10%) had no other identifiable cause for seizure other than recent Onyx embolization.[ncbi.nlm.nih.gov]
Stroke
  • Cerebral arteriovenous malformation (AVM) is an abnormal tangle of blood vessels in the brain which can cause bleeding in the brain, seizures, or stroke-like symptoms (weakness, numbness, tingling). The cause of AVMs is unknown.[ucdenver.edu]
  • Recommendations for the management of intracranial arteriovenous malformations: a statement for healthcare professionals from a special writing group of the Stroke Council, American Stroke Association.[journals.plos.org]
  • AHA Scientific Statement: Recommendations for the management of intracranial arteriovenous malformations: a statement for healthcare professionals from a special writing group of the Stroke Council, American Stroke Association.[emedicine.medscape.com]
  • The Risk of Stroke or Clinical Impairment After Stereotactic Radiosurgery for ARUBA-Eligible Patients. Stroke. 2013 Jan 3. [Medline].[emedicine.com]
  • AVM - cerebral; Arteriovenous hemangioma; Stroke - AVM; Hemorrhagic stroke - AVM Lazzaro MA, Zaidat OO. Principles of neurointerventional therapy. In: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds.[nlm.nih.gov]
Intracranial Hemorrhage
  • More ominously, they can be the source of intracranial hemorrhage, and potentially fatal when they rupture. AVM’s hemorrhage at a rate of approximately 4% per year.[maimonidesmed.org]
  • Intracranial AVM can cause convulsions, headache, focal neurological deficits and intracranial hemorrhage if ruptures. We present a 33-year-old parturient with history of paroxysmal supraventricular tachycardia, who was admitted for labor induction.[ncbi.nlm.nih.gov]
  • Hemorrhage 1N Brain Arteriovenous Malformations, Susceptibility to[wikidata.org]
  • Abstract Background: Intracranial hemorrhage is a serious possible complication in patients with brain arteriovenous malformation (AVM).[neurology.org]
  • […] patients presented with intracranial hemorrhage, and our result falls within this range.[journals.plos.org]
Focal Neurologic Deficit
  • Intracranial AVM can cause convulsions, headache, focal neurological deficits and intracranial hemorrhage if ruptures. We present a 33-year-old parturient with history of paroxysmal supraventricular tachycardia, who was admitted for labor induction.[ncbi.nlm.nih.gov]
  • Especially, in the young adult presenting with epileptic seizures or focal neurological deficits AVM needs to be considered as an important differential diagnosis.[archive-ouverte.unige.ch]
  • Common symptoms of brain AVMs include: bleeding in the skull, most commonly a subarachnoid hemorrhage seizures headaches focal neurologic deficits, such as weakness, numbness, or tingling to one part or side of the body confusion If the AVM is elsewhere[healthline.com]
  • Focal neurological deficit Rarely, AVMs may cause focal symptoms and signs in the absence of prior or concomitant intracranial haemorrhage.[doi.org]
Dizziness
  • Her older sister presented with temporal seizures at the age of 49 and later also with left hemiparesis, left hemihypaesthesia and dizziness - caused by a large AVM in the right temporal lobe.[ncbi.nlm.nih.gov]
  • […] present with certain other neurological features, which include: motor deficits like muscle weakness, sensory deficits in the form of numbness, pain, and paresthesias, memory and learning disabilities, ataxia, apraxia, aphasia, vision abnormalities, dizziness[symptoma.com]
  • […] that is bleeding are: Confusion Ear noise/buzzing (also called pulsatile tinnitus) Headache in one or more parts of the head, may seem like a migraine Problems walking Seizures Symptoms due to pressure on one area of the brain include: Vision problems Dizziness[nlm.nih.gov]
  • Pain medicine can make you dizzy or sleepy. Prevent falls by calling someone when you get out of bed or if you need help. Steroids: This medicine may be given to decrease swelling in your brain.[drugs.com]

Workup

In view of intracerebral hemorrhages being the most common presentation, the initial test of choice in CAVMs is a brain computed tomography (CT scan) [8]. Unruptured connections are usually seen as areas of mixed enhancement with surrounding edema and mass effect. A quarter of cases may show calcification in these areas.

If the patient presents with seizures and a brain CT scan is negative, a magnetic resonance imaging (MRI) of the brain must be done. CAVMs appear hyperintense (‘flow-voids’) on T2 images owing to the turbulence of blood present within these connections. The sensitivity of MRI is around 80-95%, increasing with the use of gadolinium enhancement.

The key investigation to study the CAVM location, size, and associated areas are digital subtraction angiography (DSA) [9]. CAVMs are usually wedge-shaped, with the arteries appearing enlarged and tightly packed, along with an accompanying tortuous and dilated venous circuit. DSA may also be useful in detecting arteriovenous malformations with a diameter of less than 1 cm, termed the micro-arteriovenous malformations.

A suitable alternative to DSA is CT and MR angiograms, that may be used for follow-up after treatment. They are, however, unreliable in detecting micro-arteriovenous malformations.

Routine blood tests, in the form of a complete blood count (CBC), blood grouping, coagulation studies, must be performed to rule out other causes of intracerebral hemorrhages. These tests may also be beneficial when taking the patient up for surgery. Hemorrhage in young adults may warrant a toxicological screening for drugs.

An electroencephalogram (EEG) may be needed in patients who have seizures as their first complaint. Visual fields need to be examined in patients reporting ocular symptoms.

Other tests that may be performed include functional imaging scans such as functional MRI, positron emission tomography, and magnetoencephalography [10]. These may help in localizing the functionally important cortical areas. Superselective Wada testing may be performed before surgery.

Treatment

  • Partial treatment may increase the risk of hemorrhage.[emedicine.medscape.com]
  • AVM Treatment at Maimonides Endovascular embolization Neurosurgical resection Stereotactic radiosurgery Treatment of these complex lesions is usually multimodal, with most AVM’s requiring a combination of two or all three treatment options.[maimonidesmed.org]
  • Seizures and neurologic manifestations usually resolve or markedly improve with successful treatment.[skullbaseinstitute.com]
  • Although microsurgery is the definitive treatment for many AVMs, microcatheter-based techniques and precision radiation modalities may also be used.[whhs.com]
  • Treatment The treatment of a brain AVM is either by surgery (opening the skull and surgically removing the AVM from the brain ), embolization (injecting substances into the AVM to block off the abnormal vessels via tiny plastic tubes inserted in the patient's[ucdenver.edu]

Prognosis

  • Prognosis Once a patient recovers from an AVM bleeding, he or she can have a good recovery depending on the severity of the bleed and any disability caused by the bleed.[ucdenver.edu]
  • Outcome and prognosis Prognosis for untreated AVMs has been reported to include either a 2-3% or a 4% (depending on study cited) risk of bleeding per year, with an approximate 10% mortality rate associated with the bleed.[emedicine.medscape.com]
  • Early surgical intervention for AVM presenting as ICH during pregnancy could prevent rebleeding and improve the maternal and fetal prognosis.[ncbi.nlm.nih.gov]
  • Prognosis Since there are a number of variables involved, it is difficult to generalize about the clinical outcome of AVMs in various settings and different treatment modalities.[skullbaseinstitute.com]
  • Arteriovenous malformations of the brain: prognosis without operation. Acta Neurol Scand 1965 ; 41 : 39 –42. Troupp H, Marttila I, Halonen V. Arteriovenous malformations of the brain. Prognosis without operation.[doi.org]

Etiology

  • Causes Although most AVMs are congenital, the exact etiology of their formation is unknown.[skullbaseinstitute.com]
  • Peri-AVM edema was present in 75% of MRIs performed within one month of Onyx treatment and may represent a possible etiology for seizures.New onset seizures post-Onyx embolization are not uncommon. Further study of seizure prevention is warranted.[ncbi.nlm.nih.gov]
  • — Risk Factors — Subarachnoid Hemorrhage/diagnosis/etiology/therapy Identifiers DOI: 10.1024/1661-8157/a000669 PMID: 21938711 Full text This document has no fulltext available yet, but you can contact its author by using the form below.[archive-ouverte.unige.ch]

Epidemiology

  • The epidemiology of brain arteriovenous malformations. Neurosurgery. 2000; 47 : 389–397. Crossref Medline Google Scholar 6 Stapf C, Labovitz DL, Sciacca RR, Mast H, Mohr JP, Sacco RL.[stroke.ahajournals.org]
  • […] is an AVM, blood goes directly from arteries to veins through the abnormal vessels which disrupts the normal circulation of blood. [1] Causes Arteriovenous malformations are most commonly prenatal in origin. [1] The cause of AVMs remains unknown. [1] Epidemiology[wikidoc.org]
  • Epidemiology and natural history of arteriovenous malformations. Neurosurg Focus 2001 ; 11 : e1 Kure K, Park YD, Kim TS, et al.[ajnr.org]
  • Epidemiology Frequency United States The detection rate in the general population based on prospective data from the New York Islands AVM Study is approximately 1.34 per 100,000 person-years. [5] The prevalence of cerebral AVM in the United States is[emedicine.com]
  • EPIDEMIOLOGY, PATHOGENESIS, AND PATHOLOGY — Intracranial arteriovenous malformations (AVMs) occur in about 0.1 percent of the population, one-tenth the incidence of intracranial aneurysms.[aboutcancer.com]
Sex distribution
Age distribution

Pathophysiology

  • Genetic and biological studies demonstrate that an environmental trigger ("second hit") in addition to genetic predisposition may be a key in understanding the pathophysiology of AVMs and other cerebral vascular lesions such as cavernous malformations[ncbi.nlm.nih.gov]
  • Pathophysiology The direct connection between the arterial and venous systems supplies a low-resistance shunt for arterial blood and exposes the venous system to abnormally high pressures.[emedicine.medscape.com]

Prevention

  • The primary goal of surgical treatment is to prevent hemorrhage, although seizure control may also sometimes be achieved through microsurgical resection.[whhs.com]
  • Brain AVMs are either treated after they have caused bleeding, or in some patients, an AVM is found before it has bled, and is treated to prevent it from bleeding.[ucdenver.edu]
  • OBJECTIVE: To reduce the risk of surgical resection of giant arteriovenous malformation (AVM) ( 6.0 cm) and prevent normal perfusion pressure breakthrough (NPPB) for lowering the postoperative mortality.[ncbi.nlm.nih.gov]

References

Article

  1. Abrams HL, Baum S, Pentecost MJ. Abrams' angiography, interventional radiology. Lippincott Williams & Wilkins. 2006; ISBN:0781740894.
  2. Fullerton HJ, Achrol AS, Johnston SC, et al. Long-term hemorrhage risk in children versus adults with brain arteriovenous malformations. Stroke. 2005; 36:2099.
  3. Smith FP. Neurology and neurosurgery, basic principles. Univ of Rochester Pr. 2002; ISBN:1580460844.
  4. Da Costa L, Wallace MC, Ter Brugge KC, O'Kelly C, Willinsky RA, Tymianski M. The natural history and predictive features of hemorrhage from brain arteriovenous malformations. Stroke. 2009 Jan;40(1):100-5.
  5. Osipov A, Koennecke HC, Hartmann A, et al. Seizures in cerebral arteriovenous malformations: type, clinical course, and medical management. Interventional Neuroradiology, vol. 3, no. 1, pp. 37–41, 1997.
  6. Ondra SL, Troupp H, George ED, Schwab K. The natural history of symptomatic arteriovenous malformations of the brain: a 24-year follow-up assessment. Journal of Neurosurgery, vol. 73, no. 3, pp. 387–391, 1990.
  7. Fults D, Kelly Jr DL. Natural history of arteriovenous malformations of the brain: a clinical study. Neurosurgery, vol. 15, no. 5, pp. 658–662, 1984.
  8. Brown RD Jr., Wiebers DO, Forbes GS. Unruptured intracranial aneurysms and arteriovenous malformations: frequency of intracranial hemorrhage and relationship of lesions. J Neurosurg. 1990; 73:859-863.
  9. M. Mossa-Basha, J. Chen, and D. Gandhi. Imaging of cerebral arteriovenous malformations and dural arteriovenous fistulas. Neurosurgery Clinics of North America, vol. 23, no. 1, pp. 27–42, 2012.
  10. Lazar RM, Marshall RS, Pile-Spellman J, et al. Anterior translocation of language in patients with left cerebral arteriovenous malformation. Neurology. 1997; 49:802-808.

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Last updated: 2019-07-11 20:01