Neurovascular Manifestations of Hereditary Hemorrhagic Telangiectasia: A Consecutive Series of 376 Patients during 15 Years

BACKGROUND AND PURPOSE:Hereditary hemorrhagic telangiectasia is associated with a wide range of neurovascular abnormalities. The aim of this study was to characterize the spectrum of cerebrovascular lesions, including brain arteriovenous malformations, in patients with hereditary hemorrhagic telangiectasia and to study associations between brain arteriovenous malformations and demographic variables, genetic mutations, and the presence of AVMs in other organs.MATERIALS AND METHODS:Consecutive patients with definite hereditary hemorrhagic telangiectasia who underwent brain MR imaging/MRA, CTA, or DSA at our institution from 2001 to 2015 were included. All studies were re-evaluated by 2 senior neuroradiologists for the presence, characteristics, location, and number of brain arteriovenous malformations, intracranial aneurysms, and nonshunting lesions. Brain arteriovenous malformations were categorized as high-flow pial fistulas, nidus-type brain AVMs, and capillary vascular malformations and were assigned a Spetzler-Martin score. We examined the association between baseline clinical and genetic mutational status and the presence/multiplicity of brain arteriovenous malformations.RESULTS:Three hundred seventy-six patients with definite hereditary hemorrhagic telangiectasia were included. One hundred ten brain arteriovenous malformations were noted in 48 patients (12.8%), with multiple brain arteriovenous malformations in 26 patients. These included 51 nidal brain arteriovenous malformations (46.4%), 58 capillary vascular malformations (52.7%), and 1 pial arteriovenous fistula (0.9%). Five patients (10.4%) with single nidal brain arteriovenous malformation presented with hemorrhage. Of brain arteriovenous malformations, 88.9% (88/99) had a Spetzler-Martin score of ≤2. Patients with brain arteriovenous malformations were more likely to be female (75.0% versus 57.6%, P = .01) and have a family history of hereditary hemorrhagic telangiectasia (95.8% versus 84.8%, P = .04). The prevalence of brain arteriovenous malformation was 19.7% in endoglin (ENG) mutations and 12.5% in activin receptor-like kinase (1ACVRL1) mutations.CONCLUSIONS:Our study of 376 patients with hereditary hemorrhagic telangiectasia demonstrated a high prevalence of brain arteriovenous malformations. Nidal brain arteriovenous malformations and capillary vascular malformations occurred in roughly equal numbers.

Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber disease, is an autosomal dominant disorder affecting vascular beds in multiple organ systems. Pathognomonic vascular lesions in HHT include arteriovenous malformations and telangiectasias of the skin, mucous membranes, and visceral organs, including the lung, liver, gastrointestinal tract, brain, and spinal cord.¹ HHT is diagnosed clinically by using the Curacao criteria,² which include spontaneous and recurrent epistaxis, mucocutaneous telangiectasias (lips, oral cavity, face and fingers), visceral AVMs (brain, liver, gastrointestinal, lung, and so forth), and a diagnosis of HHT in a first-degree relative by using the same criteria. Patients who meet ≥3 of the 4 criteria are labeled as having “definite HHT,” while those with 2 of the 4 criteria are labeled as having “possible” or “suspected” HHT.³Patients with HHT can present with myriad CNS complications, including vascular malformations of the brain and spinal cord. There has been much interest in studying the prevalence, characteristics, and natural history of brain AVMs (BAVMs) and other vascular anomalies in patients with HHT due to their associated morbidity. While several studies have examined the prevalence of vascular malformations and anomalies in patients with HHT, few have sought to provide a detailed characterization of the anatomic, angiographic, and clinical correlates of these lesions. The aims of the present study were the following: 1) to determine the prevalence of cerebral vascular lesions, including BAVMs and nonshunting vascular lesions such as developmental venous anomalies (DVAs), intracranial aneurysms, and cavernous malformations in the HHT population; 2) to subclassify BAVMs by using previously described criteria⁴; and 3) to determine whether there are any associations between the presence of BAVMs and demographic variables, vascular lesions in other organs, and genetic mutation status.     

Intracranial vascular malformations: imaging of charged-particle radiosurgery. Part I. Results of therapy

Twenty-four patients with intracranial vascular malformations were examined before and after helium ion radiosurgical treatment with angiography, computed tomography (CT), and magnetic resonance (MR) imaging. Twenty patients had high-flow arteriovenous malformations (AVMs). After treatment 18 of 20 AVMs (90%) showed a significant reduction in size on angiograms or MR images. Eleven of 20 (55%) had complete resolution on angiograms or MR images, 35% had partial resolution, and 10% showed no size change. Before treatment, the size range of the AVMs was 0.86-383 cm3 (median, 21.7 cm3). Smaller AVMs (less than 8 cm3) were more likely to resolve completely than medium-sized AVMs (8-64 cm3) or larger AVMs (greater than 64 cm3). Four additional patients had slow-flow vascular malformations: One had a venous angioma; one, a probable cavernous hemangioma; and two, malformations that were not seen on angiograms. CT proved inaccurate in demonstrating the boundaries of the AVM after treatment because it showed persistent contrast enhancement even when the AVM was completely obliterated on angiograms. MR imaging and angiography were complementary in the evaluation of therapeutic results and should be the primary modalities in the examination of patients with AVMs.     

MR imaging of cerebral vascular malformations

Fifteen vascular malformations, including six supratentorial arteriovenous malformations (AVMs), three venous malformations, and six brainstem vascular malformations, were examined on 0.5 T magnetic resonance (MR) and GE 9800 and 8800 computed tomographic (CT) scanners. All the malformations were shown by MR, and the arterial and venous drainage of AVMs was precisely delineated. Hematoma was always differentiated from calcification by MR signal characteristics. Increased signal in the brain parenchyma was often seen adjacent to AVMs. The signal of blood within venous malformations altered with spin-echo techniques using various repetition times and was distinguished from rapidly flowing blood in AVMs that lacked signal in all imaging sequences. Brainstem malformations were seldom demonstrated by angiography. Hemorrhage was common and was invariably associated with multiple areas of absent signal that may have represented abnormal vessels. These appearances are distinct from those of intrinsic tumors and are probably pathognomonic of brainstem vascular malformations.     

Coexistence of occult vascular malformations and developmental venous anomalies in the central nervous system: MR evaluation.

PURPOSEWe sought to determine the prevalence of coexistent occult vascular malformations (OVMs) and developmental venous anomalies (DVAs) and to investigate the relationship between them.METHODSOne hundred two patients with OVMs were examined with precontrast and postcontrast T1-weighted MR imaging and with noncontrast T2-weighted MR imaging. Seventy-two patients had surgery, with subsequent pathologic confirmation of the final diagnosis.RESULTSCoexistent DVAs and OVMs were present in 23 (23%) of 102 patients. Seventy-nine patients had OVMs without DVAs, and in this population, multiple OVMs (from two to 10 or more) were seen in 13 patients (16%). In contrast, multiple OVMs were seen in 10 (43%) of 23 patients with coexisting OVMs and DVAs. Twenty-five (83%) of 30 OVMs coexisting with DVAs were infratentorial. In 72 patients with surgically resected OVMs, 49 (68%) had pathologically confirmed cavernous malformations. Among the patients with coexistent DVAs, seven (46%) had cavernous malformations, four (27%) had thrombosed arteriovenous malformations, and four (27%) had vascular malformations that were not classifiable.CONCLUSIONOur study revealed a high prevalence of OVMs with coexistent DVAs, and a high percentage of these were in the posterior fossa. Contrast-enhanced MR imaging may increase the probability of finding these lesions, and therefore should be considered part of the preoperative evaluation, since the finding of unexpected coexistent lesions may affect surgical management.     

Ethanol Embolotherapy of Vascular Malformations: Clinical Outcomes at a Single Center

PurposeTo retrospectively evaluate the results of endovascular therapy of vascular malformations principally treated with ethanol embolization at a single center.Materials and MethodsFrom May 1999 to December 2012, 46 patients (28 female, 18 male) with vascular malformations (31 venous malformations, 15 arteriovenous malformations [AVMs]) throughout the body (nine upper extremity, 31 lower extremity, and six truncal) who underwent ethanol embolization were studied and followed up. Demographic factors, clinical findings, imaging data, and patient-reported changes in symptoms were collected and analyzed. Follow-up data were obtained by office visits, repeat imaging, and telephone contact.ResultsTwenty-four patients (52.2%) were considered cured, 12 (26.1%) showed improvement, and 10 (21.7%) had no change or showed worsening. Similar rates of cure or improvement were seen for AVMs and venous malformations (P = 0.67). Lesion location, depth, and size were not associated with differences in outcomes (P = .87, P = .37, and P = .61, respectively). Type 1 and type 2 AVMs were cured more often than other AVM types. The overall complication rate was 24% (11 of 46 patients). Minor complications were seen in six individuals (13%), and major complications developed in five patients (11%).ConclusionsEthanol embolization of vascular malformations produces good outcomes, with control or relief of symptoms in a majority of patients.     

MR angiography of spinal vascular malformations.

PURPOSETo determine the potential and limitations of MR angiography in the evaluation of spinal vascular malformations.METHODSEleven consecutive patients with spinal vascular malformations proved with spinal selective arteriography underwent two-dimensional phase-contrast MR angiography.RESULTSAbnormal vessels within the spinal canal were identified with MR angiography in 10 patients. In 1 patient with a dural arteriovenous fistula no definite vascular abnormality was seen with MR angiography. Correlation of MR angiography with spinal selective arteriography showed that the former allowed identification of the arterial feeder in 3 patients with intramedullary arteriovenous malformations and 2 with perimedullary arteriovenous fistula, whereas the source of intradural draining vein was seen in only 2 of 6 patients with dural arteriovenous fistula.CONCLUSIONMR angiography is a promising complementary tool to MR imaging for detection and characterization of spinal vascular malformations.     

MR imaging of symptomatic peripheral vascular malformations.

We performed a retrospective study of symptomatic peripheral vascular malformations to determine if MR imaging can be used to distinguish slow-flow venous malformations from high-flow arteriovenous malformations and arteriovenous fistulas. Twenty-seven MR examinations in 25 patients with malformations outside the CNS were reviewed. Sixteen venous malformations, nine arteriovenous malformations, and two arteriovenous fistulas were included. In all cases, the MR findings were correlated with the results of angiography. The distinction between slow-flow venous malformations and high-flow arteriovenous malformations and arteriovenous fistulas was made primarily on T2-weighted MR images, which showed high signal intensity in venous malformations and flow voids in high-flow lesions. In addition to the previously described MR features of venous malformations (serpentine pattern with septations, associated muscle atrophy, and typical T1 and T2 signal intensities), several new MR features were apparent. Venous malformations had a propensity for multifocal involvement (37%), orientation along the long axis of extremities or affected muscles (78%), and adherence to neurovascular distributions (64%). Prominent subcutaneous fat was commonly seen adjacent to the malformation. MR images of arteriovenous malformations and arteriovenous fistulas also commonly showed muscle atrophy and subcutaneous fatty prominence. Our results show that slow-flow venous malformations can be distinguished from high-flow arteriovenous malformations and fistulas on the basis of spin-echo MR signal characteristics. The associated imaging characteristics help in the differential diagnosis in problematic cases.     

Basal Ganglia T1 Hyperintensity in Hereditary Hemorrhagic Telangiectasia

BACKGROUND AND PURPOSE:The implications of basal ganglia T1 hyperintensity remain unclear in patients with hereditary hemorrhagic telangiectasia. This study was performed to assess the prevalence of this imaging finding in a large cohort of patients with hereditary hemorrhagic telangiectasia and to identify any association between this phenomenon and other disease manifestations.MATERIALS AND METHODS:In this retrospective study, we identified all patients at our institution diagnosed with definite hereditary hemorrhagic telangiectasia from 2001 to 2017. Patients who did not undergo brain MR imaging were excluded. Patient demographics, laboratory results, and hereditary hemorrhagic telangiectasia disease characteristics were noted. Basal ganglia hyperintensity was evaluated both qualitatively and quantitatively relative to the signal intensity in the ipsilateral thalami. Statistical analysis was performed with commercially available software.RESULTS:A total of 312 patients (41% men, 59% women; mean age, 51 ± 18 years) with definite hereditary hemorrhagic telangiectasia were identified. Basal ganglia T1 hyperintensity was present in 23.4% of patients and demonstrated a statistically significant association with older age (P < .001), increased hepatic AVMs (P < .001), high cardiac output state (P < .001), hepatic failure (P = .01), elevated peak serum alkaline phosphatase level (P = .03), and increased total bilirubin count (P = .03). There was no significant association with sex, hereditary hemorrhagic telangiectasia genetic mutation status, parkinsonism, or serum transaminase levels.CONCLUSIONS:Basal ganglia T1 hyperintensity occurs in >23% of patients with hereditary hemorrhagic telangiectasia and is associated with hepatic vascular malformations, hepatic dysfunction, and elevated cardiac output. The presence of this finding on screening MR imaging in patients with hereditary hemorrhagic telangiectasia should prompt further evaluation for visceral lesions causing arteriovenous shunting.

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by arteriovenous malformations in multiple visceral and mucocutaneous vascular beds. The Curaçao diagnostic criteria include the following: 1) the presence of spontaneous and recurrent epistaxis, 2) mucocutaneous telangiectasias, 3) visceral arteriovenous malformations, and 4) a first-degree relative diagnosed with HHT using the same criteria.¹ Patients who meet at least 3 criteria are given a definite diagnosis of HHT, while those meeting 2 criteria are diagnosed with possible or suspected HHT; patients meeting <2 criteria are considered unlikely to have HHT. Siblings and children of affected patients have a 50% risk of inheriting the disorder.²The most common clinical presentation of HHT is epistaxis early in the second decade of life.² In hospitalized patients, epistaxis and gastrointestinal hemorrhage occur in approximately 16% and 11% of patients, respectively, while congestive heart failure occurs in nearly 20% of patients.³ Visceral arteriovenous malformations predominantly involve the liver, lungs, and brain, and their prevalence is related to the specific underlying mutation.⁴ Patients with mutations in the endoglin (ENG) gene (HHT-1) more often have cerebral and pulmonary AVMs, while patients with mutations in the activin receptor-like kinase 1 (ALK1) gene (HHT-2) are more likely to have hepatic AVMs; the rare SMAD family member 4 mutation is associated with juvenile colonic polyposis.^5,6 The overall prevalence of cerebral AVMs is 10%, with a higher prevalence in HHT-1 versus HHT-2 (13.4% versus 2.4%).⁷ Although clinically silent in nearly 45% of patients, AVMs may cause substantial morbidity, depending on their location, size, and the degree of arteriovenous shunting. Baseline brain MR imaging screening is recommended to minimize the risk of potentially fatal complications from cerebral AVMs.⁸Some patients with HHT demonstrate abnormally increased basal ganglia signal intensity on T1-weighted MR images of the brain.^9–11 This finding has been attributed to intracranial deposition of paramagnetic manganese in hepatic arteriovenous shunting by hepatic AVMs.¹¹ However, the incidence and implications of this imaging finding remain unclear in the HHT population. Therefore, we conducted this study to assess the prevalence of basal ganglia T1 hyperintensity in a large cohort of patients with HHT and to identify any association between this phenomenon and other disease manifestations.     

Cerebral vascular malformations: applications of magentic resonance imaging to differential diagnosis

Summary Twelve patients with cerebral vascular malformations (5 cavernous angiomas, 1 thrombosed arteriovenous malformation, and 6 venous angiomas) were studied with magnetic resonance (MR) imaging. All lesions were clearly depicted. Characteristic MR findings were obtained mainly on T2-weighted images: a markedly low intensity area was always seen. The margins of arteriovenous malformation (AVM) and venous angioma were irregular while those of cavernous angioma were smooth in all planes on T2-weighted images. Gradient-echo (GrE) pulse sequences were more sensitive than T2-weighted spin echo (SE) in lesion detection. MR imaging could play an important role in the differential diagnosis of cerebral vascular malformations.     

Venous congestion: an MR finding in dural arteriovenous malformations with cortical venous drainage.

PURPOSETo present the MR findings of intracranial dural arteriovenous malformations with cortical venous drainage, emphasizing the parenchymal changes.METHODSConventional MR and x-ray angiograms in 13 patients with dural arteriovenous malformations and cortical venous reflux were reviewed. The site of the shunt, location of the venous reflux, and presence of venous stenosis were assessed on the angiograms. Parenchymal changes, dilated vessels, and venous occlusive disease were assessed on MR.RESULTSOn MR, 10 of the 13 patients (77%) had dilated pial vessels. Two patients had hydrocephalus. Two patients presented with parenchymal bleeds, one with a subdural component, both remote from the nidus. Two patients presented with subarachnoid hemorrhage. One patient had a parenchymal bleed 9 months after presentation. Venous occlusion was evident on MR in 2 patients. Diffuse white matter edema in the cerebellar or cerebral hemispheres was present on MR in 4 patients and correlated with neurologic deficits. In 2 of these 4 patients, gadolinium enhancement was seen in the periphery of the involved hemisphere.CONCLUSIONSOn MR a surplus of pial vessels suggests a dural arteriovenous malformation with cortical venous drainage. The MR finding of white matter edema deep in the cerebral or cerebellar hemispheres is direct evidence of a venous congestion.     

Spinal cord vascular disease: characterization with fast three-dimensional contrast-enhanced MR angiography

BACKGROUND AND PURPOSE: Noninvasive characterization of spinal vascular lesions is essential for guiding clinical management, and several MR angiographic techniques have been applied in the past with variable results. The purpose of our study was to assess the potential of a dynamic 3D contrast-enhanced MR angiographic sequence to characterize spinal vascular lesions and to identify their arterial feeders and venous drainage. METHODS: A contrast-enhanced gradient-echo 3D pulse sequence providing angiographic information within 24 seconds was applied prospectively in 12 consecutive patients with a presumed spinal vascular lesion. The images were evaluated for visibility of the arterial feeder, and the results were compared with those of conventional angiography performed the next day. RESULTS: The MR angiographic findings proved that the lesions were correctly characterized as spinal arteriovenous malformations (AVMs) (n = 6), spinal dural arteriovenous fistulas (AVFs) (n = 3), a hemangioblastoma (n = 1), a teratoma (n = 1), and a vertebral hemangioma (n = 1). The arterial feeder was visible in all six AVMs and in the hemangioblastoma, corresponding to conventional angiographic findings. In two of three spinal dural AVFs, an enlarged draining medullary vein was seen within the neural foramen, providing correct localization. The third fistula could not be seen owing to reduced image quality from motion artifacts. CONCLUSION: Fast 3D contrast-enhanced MR angiography is a noninvasive technique with high accuracy in the characterization of spinal vascular disease. Visibility of the arterial pedicles corresponds well with that of digital subtraction angiography, facilitating the management of these patients.     

MR imaging in the management of supratentorial intracranial AVMs

The MR images, CT scans, and angiograms of 15 consecutive patients with intracranial, supratentorial arteriovenous malformations (AVMs) were studied retrospectively. The three imaging techniques were evaluated separately to assess their utility in defining the size, characteristics, and location of the AVM nidus, its arterial supply, and venous drainage. The studies were also evaluated for their ability to show associated parenchymal abnormalities, the presence of mass effect, and changes occurring after embolization. MR was superior to both CT and angiography in showing the exact anatomic relationships of the nidus, feeding arteries, and draining veins, as well as in demonstrating the extent of AVM nidus obliteration after embolization. MR was more sensitive than CT in revealing associated parenchymal abnormalities and subacute hemorrhage. Because of flow-related artifacts and low sensitivity in distinguishing calcification from rapid flow and/or hemosiderin, MR seemed to have a low sensitivity for detecting old hemorrhage within an AVM nidus. Angiography is still needed in the planning of either surgical or endovascular treatment of AVMs.     

Phase-contrast MR angiography of vascular malformations of the spinal cord at 0.5 T.

Preliminary experience with phase-contrast magnetic resonance (MR) angiography at 0.5 T applied in 12 cases of vascular malformations of the spinal cord is reported. There were six intramedullary arteriovenous malformations (AVMs), four perimedullary fistulas, and two dural arteriovenous fistulas with perimedullary drainage, all proved with x-ray angiography. The small size of the vessels and their location within a bony structure presented a technical challenge. Serpentine vascular signal patterns were identified within the spinal canal in all cases, showing good correlation with the x-ray angiographic pattern. Relative to spin-echo images, MR angiograms allowed better visualization of the venous drainage. The nidus of intramedullary AVMs was more difficult to recognize. The ability to manipulate the velocity-encoding value allows better characterization of flow speed. The results underline the two dimensions of the phase-contrast technique, which provides both anatomic images and dynamic information about vascular malformations. MR angiography does not replace selective x-ray angiography, which is indispensable for therapeutic strategy (endovascular procedure or surgery), but it can be considered a valuable alternative to x-ray angiography during follow-up.     

Exceptional multiplicity of cerebral arteriovenous malformations associated with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome).

PURPOSETo describe the clinical and imaging features of seven patients with hereditary hemorrhagic telangiectasia and an exceptional number of cerebral arteriovenous malformations (AVMs).METHODSOne hundred thirty-six patients from a dedicated hereditary hemorrhagic telangiectasia clinic were screened systematically for cerebral AVMs by means of MR imaging. Thirty-one were found to have abnormalities suggestive of a vascular malformation. Eighteen of these 31 patients subsequently underwent diagnostic cerebral angiography.RESULTSOf the 18 patients who had cerebral angiography, all were found to have at least one AVM and seven were found to have three or more AVMs. The number of cerebral AVMs detected ranged from three to nine. At angiography, the AVMs varied in size from 3 to 25 mm in maximal dimension and consisted of a poorly defined plexiform nidus that typically had a single arterial feeding pedicle and a single draining vein. The two largest AVMs (20- and 25-mm nidus, respectively) contained intranidal aneurysms. Treatment included embolization, surgical excision, or follow-up management.CONCLUSIONSMultiple cerebral AVMs are associated with hereditary hemorrhagic telangiectasia and further highlight the uniqueness of central nervous system involvement by this systemic angiodysplasia. MR imaging can underestimate the number and size of cerebral AVMs; therefore, catheter angiography is necessary to establish the extent of central nervous system involvement in this disorder.     

Neurovascular lesions and endovascular therapy: the role of MR

Summary Magnetic resonance imaging (MRI) studies were performed on 27 patients with vascular lesions of the central nervous system before and after embolization with either IBCA, polyvinyl alcohol foam particles, Avitene (microfibrillar collagen) or balloons. Thirteen pial brain arteriovenous malformations (AVMs), 3 brain AV fistulas, 2 giant aneurysms, 5 dural AVMs, 1 vertebro-vertebral fistula and 3 meningiomas were studied. The pre-embolization MR demonstrated the nidus and venous drainage of all pial AVMs. MR failed to detect 3 out of 5 dural AVMs using only spin echo sequences. A draining vein alone was seen in the remaining two cases. MR was superior to CT in detecting contiguous parenchymal changes such as atrophy, reversible ischemia, and mass effect in the pre-embolization studies. Following embolization, MR demonstrated partial or complete obliteration of the vascular nidus in all 13 pial AVMs. The embolized area was seen as an area of increased signal consistent with thrombus where previously there had been signal void. Ischemic or edematous changes in the brain parenchyma following embolization were seen on MR more easily than on CT scans. MR was accurate in the assessment of aneurysm patency, degree of thrombosis and balloon position in both giant aneurysms, and AV fistulae. These MR findings had an impact on patient management. MR will be an increasingly useful tool in the diagnosis and management of a number of neurovascular diseases requiring endovascular intervention.     

Prevalence of and Factors Associated with Arterial Aneurysms in Patients with Hereditary Hemorrhagic Telangiectasia: 17-Year Retrospective Series of 418 Patients

PurposeTo estimate the prevalence of and identify characteristics associated with the presence of aneurysms in a cohort of patients with hereditary hemorrhagic telangiectasia (HHT).Materials and MethodsIn the study institution’s HHT database, 418 patients with a definite HHT diagnosis were identified based on the clinical Curaçao criteria and/or an HHT-associated genetic mutation. Regression modeling was used to evaluate the association between arterial aneurysms and older age, male sex, smoking, alcohol consumption, hypertension, hyperlipidemia, genetic mutations, the presence of arteriovenous malformations (AVMs) unrelated to the aneurysms, and HHT-related genetic mutations.ResultsForty-three (10.3%) patients had at least 1 aneurysm. Sixteen (3.8%) patients had multiple aneurysms. Of the variables analyzed, older age (odds ratio [OR] = 1.02; 95% confidence interval [CI]: 1.0–1.1), the presence of anatomically and flow-unrelated AVMs (OR = 3.2; 95% CI: 1.3–8.0), and the presence of activin A receptor type II-like 1 (ACVRL1) mutation (OR = 4.0; 95% CI: 1.5–10) were associated with the presence of at least 1 aneurysm.ConclusionsIn this cohort of patients with HHT, the prevalence of intracranial and visceral arterial aneurysms was estimated to be 10.3%. Older age, the presence of unrelated AVMs, and the presence of the ACVRL1 mutation were associated with the presence of arterial aneurysms. Further study is required to assess the clinical importance and risk of rupture of aneurysms in patients with HHT.     

MR imaging of head and neck vascular malformations.

Between 1980 and 1990, 150 patients with cervicofacial vascular malformations were studied at the authors' institution with computed tomography, plain radiography, and angiography. Since 1989, 34 of these patients have also undergone magnetic resonance (MR) imaging. Capillary-venous hemangiomas seem to be the best indication for the adjunctive use of MR imaging. The venous pouches, characteristic of this type of lesion, cause elevated signal intensity, well seen on the T2-weighted images. Excellent fat and muscle differentiation with MR imaging allows appreciation of the depth of extension of these lesions and their delimitation from normal tissue. Arteriovenous malformations (AVMs) are characterized by serpentine signal voids, indicative of the high flow rate of these lesions. Delimitation of the AVM nidus in the midst of the afferent and efferent dilated vessels is often difficult. Study of immature angiomas with MR imaging should be restricted to lesions in specific locations (eg, orbital, laryngeal). Lymphatic malformations showed either tissular or cystic signal intensity changes. MR imaging does not replace other studies but represents an important complementary study for the delineation and diagnosis of deep extensions of vascular malformations, allowing better planning of therapy.     

Dynamic gadolinium-enhanced MRI in the detection of spinal arteriovenous malformations

Arteriovenous fistulae and malformations (AVFs and AVMs) of the spinal cord are rare, potentially treatable causes of progressive disability. Although a variety of MRI abnormalities has been described, the diagnosis rests on the findings on selective spinal angiography.Collecting T2^*-weighted MR images during the passage of a gadolinium bolus gives information about perfusion and blood volume. We carried out dynamic MRI in seven patients with vascular abnormalities (5 dural AVFs, 1 intramedullary AVM, 1 cryptic angioma) and in two patients without an AVM. High resolution T1- and T2-weighted sagittal images of the whole spinal cord were first obtained using a multiarray receiver coil. Sagittal radiofrequency spoilt gradient echo images (GE34/25, flip angle 10⁰) were then obtained during bolus injection of gadolinium-DTPA. Abnormalities were seen in all seven patients with AVFs or AVMs. In the patient with an intramedullary AVM and four of the five with dural AVFs transient signal reduction was seen within the perimedullary venous plexus during passage of the bolus. The findings correlated well with those from selective spinal angiography. We conclude that dynamic MRI offers a useful adjunct to angiography and may localise an arteriovenous shunt when conventional MRI fails to do so. In combination with high-resolution imaging of the entire spinal cord the technique may make myelography redundant; it is simple, well tolerated and can be carried out without significant time penalty.     

Clinically documented hemorrhage in cerebral arteriovenous malformations: MR characteristics.

This study assessed the ability of magnetic resonance (MR) imaging to identify vascular characteristics of cerebral arteriovenous malformations (AVMs) which are predictive of hemorrhage. The study also evaluated the sensitivity and specificity of spin-echo (SE) and gradient-recalled-echo (GRE) imaging in the detection of prior clinical hemorrhage on the basis of location of the hemorrhage (parenchymal, intraventricular, or subarachnoid). Fifty patients with high-flow AVMs were evaluated. Twenty-four (48%) patients had prior clinical hemorrhage documented at computed tomography or MR imaging at the time of bleeding. Central venous drainage (P less than .001), central AVM location (P less than .001), and peri- or intraventricular AVM location (P less than .01) correlated positively with prior clinical hemorrhage. Intranidus aneurysms and angiomatous change could not be detected with MR. Nineteen of the 24 patients with prior hemorrhage underwent both SE and GRE imaging. Hypointensity, indicating the presence of iron from prior hemorrhage, was demonstrated in 14 of 19 T2-weighted SE images (sensitivity, 74%) and in 18 of 19 GRE images (sensitivity, 95%). No patient without a prior episode of clinical bleeding demonstrated evidence of iron deposition at MR imaging (specificity, 100%).     

MR-DSA在评价脑动静脉畸形栓塞前后的价值和限度

目的 评价动态MR血管造影(MR—DSA)在观察脑动静脉畸形栓塞前后的价值和限度。资料与方法 22例脑动静脉畸形患者，在栓塞前后均行MR—DSA、三维增强MR血管造影(3D—CEMRA)、质子加权成像(proton imaging)和数字减影血管造影(DSA)检查，同时由2位有经验的医师独立进行双盲对照研究。结果 MR—DSA和DSA在22例脑动静脉畸形栓塞前后的瘤巢大小及分类上结果一致(100％)，MR—DSA能够显示脑动静脉畸形栓塞后的血流动力学改变，瘤巢及引流静脉延迟显影17例，瘤巢变小13例(其中完全消失4例)，与DSA的符合率为100％。与DSA相比，分别有瘤巢内动脉瘤和栓塞后引流静脉及供血动脉直径变小各1例，MR—四A没有显示，而3D—CEMRA显示清晰。栓塞后的质子加权图像与栓塞前相比，22例均可见不同程度的高信号。结论 MR—DSA是一种快速、有效且无创的血管造影检查方法，能提供脑动静脉畸形栓塞前后的血流动力学信息，MR，DSA、3D—CEMRA和质子加权成像应在脑动静脉畸形的随访中相互结合，综合运用。