Head and neck arteriovenous malformations: University of Tennessee experience, 2012-2022.

OBJECTIVE: Head and neck arteriovenous malformations (AVMs) are complex lesions that represent a subset of vascular anomalies (VAs). The authors present an analysis of their institutional experience managing these lesions as a multidisciplinary team. METHODS: A retrospective chart review was performed of head and neck AVM patients treated at the authors' institution from 2012 to 2022. Recorded data included patient demographic characteristics, details of clinical presentation, Schöbinger clinical scale and Yakes AVM classification results, and details of all endovascular and surgical treatments. The primary outcome of the study was clinical response to treatment. Angiographic occlusion and complication rates were reported. Chi-square tests were used for comparative statistics. RESULTS: Sixteen patients (9 female, 56%) with AVMs of the head and neck presented from age 3 to 77 years. The Schöbinger stage was stage II in 56% of patients (n = 9) and stage III in 44% of patients (n = 7). The Yakes AVM classification was nidus type (2a, 2b, or 4) in 7 patients (43%) and fistula type (1, 3a, or 3b) in 9 patients (57%). The majority of patients (n = 11, 69.0%) were managed with embolization as the only treatment modality, with an average of 1.5 embolizations/patient (range 1-3). Surgical resection was employed in 5 patients (4 in combination with embolization). Symptom resolution and symptom control were achieved in 69% and 31% of patients, respectively, in the entire cohort. A radiographic cure was demonstrated in 50% of patients. There were no statistical differences in clinical outcomes or radiographic cure rates between patients treated with different modalities. CONCLUSIONS: Head and neck AVMs can be treated successfully with a primarily endovascular management strategy by a multidisciplinary team with the goal of symptomatic control.

RASopathies: A significant cause of polyhydramnios?

OBJECTIVE: The aim of the study is to determine the prevalence of RASopathies in a polyhydramnios cohort selected by postnatal medical genetics evaluation. METHODS: In this retrospective study, we reviewed 622 pregnancies with polyhydramnios seen at Lucile Packard Children's Hospital between 2008 and 2017. The findings from 131 cases evaluated by Medical Genetics were included in our final analysis. Genetic testing information was extracted to determine the rate of chromosomal or single gene conditions focusing on the RASopathies. Additional variables collected were: maternal characteristics, ultrasound findings, and the severity and timing of diagnosis of polyhydramnios. RESULTS: Postnatal genetic testing or clinical examination identified a genetic disorder in 63 (48.1%) cases, more than half (n = 33) of which had a single gene condition. Postnatal testing revealed an underlying RASopathy in 15 (11.5%) cases. An underlying RASopathy was significantly associated with the severity and timing of polyhydramnios (p < 0.05). CONCLUSION: Focusing on a selected cohort postnatally evaluated by Medical Genetics, our study identified a chromosomal or genetic disorder in almost half of pregnancies complicated by polyhydramnios. Specifically, an underlying RASopathy was found in 11.5% of cases with 13/15 of these cases having additional ultrasound findings.

Capillary malformation-arteriovenous malformation syndrome: a multicentre study.

BACKGROUND: Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is a rare syndrome with characteristic skin lesions that are associated with fast-flow vascular malformations (FFVMs) in one-third of patients. Few case series have been described, and none in Spain. AIM: To identify the prevalence of dermatological parameters, FFVMs and associated features in a large series of patients with CM-AVM. METHODS: We conducted an observational study of patients with CM-AVM syndrome diagnosed in 15 Spanish hospitals over 3 years. The main clinical, radiological, genetic findings and associated diseases were analysed. RESULTS: In total, 64 patients were assessed. In 26.5% of cases, the diagnosis was incidental. In 75% of patients, there was one significantly larger macule, which we termed the 'herald patch'. FFVMs were detected in 34% of the patients, with 30% located on the skin, 7.8% in the brain and in 1.5% in the spine. There was a positive family history in 65% of the 64 patients. Genetic analysis was performed for RASA1 mutations in 57 patients, of whom 42 (73%) had a positive result. All 4 patients tested for EPHB4 mutations had a positive result. No tumour lesions were detected in the series, except for five infantile haemangiomas. CONCLUSIONS: Our data on clinical lesions, associated FFVM, family history and genetics are similar to those previously published in the literature. An extensive data analysis failed to demonstrate any statistically significant association between the presence of an FFVM and any clinical, familial or genetic parameter that could predict its onset, although a link between the presence of a herald patch on the midline face and the presence of a brain FFVM was observed. We did not detect any genotype-phenotype correlation.

Pulmonary Arteriovenous Malformations in Non-hereditary Hemorrhagic Telangiectasia Patients: An 18-Year Retrospective Study.

PURPOSE: Pulmonary arteriovenous malformations (PAVMs) are most commonly associated with hereditary hemorrhagic telangiectasia (HHT). Patients with PAVMs can present with serious complications including stroke, transient ischemic attack (TIA), and brain abscess. PAVMs are rare in non-HHT patients and little is known about this patient population. The aim of this retrospective study is to better understand clinical presentation and outcomes of PAVMs occurring exclusively in non-HHT patients. METHODS: Non-HHT patients with PAVMs at the Mayo Clinic-Rochester between 01/01/2000 and 12/31/2018 were reviewed. Patients with Curacao score > 1 were excluded. Demographics, imaging characteristics, neurological complications, and follow-up imaging were analyzed. RESULTS: Seventy-seven patients with PAVMs were identified. The mean age at diagnosis was 48.2 ± 18.3 years with female preponderance (59.7%). The majority of PAVMs had lower lobe predominance (66.7%) and were simple and single in 75.3% and 89.6% of cases, respectively. Most patients were asymptomatic (46.8%) with dyspnea being the most common symptom (28.6%). Neurologic complications occurred in 19.5% of patients. The majority of PAVMs were idiopathic (61%). Thirty patients (39%) had one or more possible risk factors including previous thoracic surgery (23.4%), congenital heart disease (19.5%), and chest trauma (10.4%). Embolization was performed in 37 (48.1%) patients and only 4 (5.2%) underwent surgical resection. CONCLUSIONS: Non-HHT PAVMs occur more commonly in females, are most commonly simple and single, and have lower lobe predominance and a high rate of neurologic complications. Potential predisposing risk factors were identified in about 40% of the cases. Clinicians should be aware of the risk of PAVM development in patients with history of chest trauma, congenital heart disease, lung infection/abscess, and thoracic surgery.

Pulmonary gas exchange in hereditary hemorrhagic telangiectasia patients with liver arteriovenous malformations.

BACKGROUND: The severity of Hereditary Hemorrhagic Telangiectasia (HHT) disease is generally related to vascular visceral involvement represented by arteriovenous malformations (AVMs). Pulmonary function tests (PFTs) remain normal in HHT patients without Pulmonary AVMs (PAVMs) and respiratory comorbidity. The aim of our study was to compare the diffusing capacity of the lung for carbon monoxide (DLCO) and nitric oxide (DLNO) and its 2 components: the pulmonary capillary blood volume (Vc) and the alveolar-capillary membrane conductance (Dm), in HHT patients with PAVMs, PAVMs and liver AVMs (LAVMs), LAVMs without PAVM, no PAVM and LAVM, and controls. METHODS: Sixty one consecutive adult patients (HHT without PAVM and LAVM: n = 7; HHT with PAVMs: n = 8; HHT with PAVMs and LAVMs: n = 25; HHT with LAVMs: n = 21) and controls matched for age and sex ratio without respiratory, heart and liver pathology (n = 15) were non-invasively evaluated using PFTs, combined DLCO/DLNO, arterial blood gas at rest, contrast echocardiography and enhanced computed tomography scan of the liver and chest the day of pulmonary function testing. RESULTS: We found that patients with LAVMs but without PAVMs exhibited increased Vc/Dm ratio. Interestingly, HHT patients with hepatic artery enlargement showed higher Vc/Dm ratio than HHT patients with normal hepatic artery diameter. CONCLUSION: Vc/Dm ratio may have practical impact in HHT patients' management to detect precociously the occurrence of LVAMs. However, further studies are needed to assess the accuracy and potential prognostic value of pulmonary gas exchange measurements in HHT patients with LVAMs.

Diagnostic Yield of Rescreening Adults for Pulmonary Arteriovenous Malformations.

PURPOSE: To determine the yield of rescreening adult hereditary hemorrhagic telangiectasia (HHT) patients with initial negative screening CT for pulmonary arteriovenous malformations (PAVMs). MATERIALS AND METHODS: Patients with a definite diagnosis of HHT were identified in the University of Toronto, Université de Montréal, and Mayo Clinic HHT databases. Inclusion criteria were: (i) definite diagnosis of HHT; (ii) initial negative PAVM screening based on bubble echocardiography and/or chest CT; and (iii) minimum 2-year imaging follow-up. A positive rescreen was defined as a newly detected PAVM on follow-up CT. Frequency of new PAVMs was calculated at 3 ± 1 years, 5 ± 1 years, 7-9 years, and ≥10 years. The primary endpoint was the rate of new PAVMs at 5 ± 1 years. RESULTS: One hundred seventy-two patients (mean age, 49.6 ± 16.7 years; 59% female) were followed for a median of 7 years. Nine patients (5.2%) had newly detected PAVMs. At the 3-, 5-, 7-, and ≥10-year time points, the cumulative rate of newly detected PAVMs was 1.8% (3/166), 5.0% (7/140), 8.8% (8/91), and 13.8% (9/65), respectively. Median feeding artery diameter was 1.3 mm. One patient had a feeding artery larger than 3 mm discovered after 6 years and was treated with embolization. The overall rate of newly detected PAVMs was 0.7%/patient-year. CONCLUSIONS: There is a definite but low rate of newly detected PAVMs in HHT patients with initial negative screening studies. No new treatable PAVMs were identified at the 5-year mark, although 1 treatable case was identified after 6 years. These findings suggest that a longer screening interval may be warranted.

Ischemic Stroke Secondary to Paradoxical Embolism Through a Pulmonary Arteriovenous Malformation: Case Report and Review of the Literature.

Paradoxical embolism due to isolated pulmonary arteriovenous malformation (AVM) is an uncommon cause of ischemic stroke, with the majority occurring in patients who have not yet been diagnosed with their malformation. We report a 32-year-old man who presented with an abrupt onset of right facial weakness and expressive aphasia. Brain magnetic resonance imaging revealed an acute infarct in the left middle cerebral artery territory and chronic infarcts in the bilateral cerebellar hemispheres. A cardioembolic mechanism was initially considered in the setting of perimyocarditis diagnosed a few months earlier. Transthoracic and transesophageal echocardiograms revealed high volume right to left shunting, but no septal defects. A pulmonary AVM was confirmed with computed tomography angiography and fistualization was successfully treated with embolization. This report highlights a case of undiagnosed pulmonary AVM leading to recurrent paradoxical emboli to the brain. We review the epidemiology, pathophysiology, and management of pulmonary AVMs in relation to stroke risk.

Cerebral Abscess Associated With Odontogenic Bacteremias, Hypoxemia, and Iron Loading in Immunocompetent Patients With Right-to-Left Shunting Through Pulmonary Arteriovenous Malformations.

Background: Cerebral abscess is a recognized complication of pulmonary arteriovenous malformations (PAVMs) that allow systemic venous blood to bypass the pulmonary capillary bed through anatomic right-to-left shunts. Broader implications and mechanisms remain poorly explored. Methods: Between June 2005 and December 2016, at a single institution, 445 consecutive adult patients with computed tomography-confirmed PAVMs (including 403 [90.5%] with hereditary hemorrhagic telangiectasia) were recruited to a prospective series. Multivariate logistic regression was performed and detailed periabscess histories were evaluated to identify potential associations with cerebral abscess. Rates were compared to an earlier nonoverlapping series. Results: Thirty-seven of the 445 (8.3%) patients experienced a cerebral abscess at a median age of 50 years (range, 19-76 years). The rate adjusted for ascertainment bias was 27 of 435 (6.2%). Twenty-nine of 37 (78.4%) patients with abscess had no PAVM diagnosis prior to their abscess, a rate unchanged from earlier UK series. Twenty-one of 37 (56.7%) suffered residual neurological deficits (most commonly memory/cognition impairment), hemiparesis, and visual defects. Isolation of periodontal microbes, and precipitating dental and other interventional events, emphasized potential sources of endovascular inoculations. In multivariate logistic regression, cerebral abscess was associated with low oxygen saturation (indicating greater right-to-left shunting); higher transferrin iron saturation index; intravenous iron use for anemia (adjusted odds ratio, 5.4 [95% confidence interval, 1.4-21.1]); male sex; and venous thromboemboli. There were no relationships with anatomic attributes of PAVMs, or red cell indices often increased due to secondary polycythemia. Conclusions: Greater appreciation of the risk of cerebral abscess in undiagnosed PAVMs is required. Lower oxygen saturation and intravenous iron may be modifiable risk factors.

Pulmonary Arteriovenous Malformations Are Associated with Silent Brain Infarcts in Hereditary Hemorrhagic Telangiectasia Patients.

BACKGROUND AND PURPOSE: There is a high prevalence of right-to-left shunting pulmonary arteriovenous malformations (PAVMs), which are stroke risk factors, in hereditary hemorrhagic telangiectasia (HHT) patients. While the prevalence of ischemic complications in HHT patients is known, the prevalence of silent brain infarcts (SBI) remains unknown. The purpose of this study was to determine the prevalence and risk factors for SBI in HHT patients. MATERIALS AND METHODS: Our institutional HHT database was queried to identify HHT patients who received a baseline screening brain MRI from January 2000 to February 2017. This study group was further refined by excluding patients who had a history of clinical ischemic disease as defined by having a stroke or transient ischemic attack (TIA). Brain MRIs were reviewed for SBI. Baseline data on demographics, Curacao criteria, presence of PAVMs, and cardiovascular risk factors were collected. The primary outcome was SBI prevalence. We also examined which baseline patient characteristics were associated with SBI through univariate chi-square and Student t tests and multivariate logistic regression analyses. RESULTS: Three hundred fifty three consecutive HHT patients from January 2000 to February 2017 with a screening brain MRI and no prior history of stroke/TIA were included. SBI prevalence was 9.9% (35/353). SBI patients were more likely to have PAVMs than non-SBI patients (80.6 vs. 53.1%, p = 0.005). The median age was 66 in the SBI group and 52 in the non-SBI group (p = 0.006). SBI patients had higher prevalence of hyperlipidemia (34.3 vs. 9.8%, p < 0.0001), hypertension (48.6 vs. 22.0%, p = 0.005), and tobacco use (25.7 vs. 9.8%, p = 0.005). No patients under 30 had SBI. In the 60-69 age group, the prevalence of SBI was 18.8% with rates of 28.6% in the PAVM group and 10.5% in the non-PAVM group. For patients ≥70 years old, the prevalence of SBI was 21.4% overall and 27.6% in the PAVM group and 10.5% in the non-PAVM group. On multivariate analysis, PAVMs (OR 3.62, 95% CI 1.46-10.40) and increasing age (OR 1.04, 95% CI 1.01-1.07) were independently associated with SBI. CONCLUSIONS: Overall, a similar 10% SBI prevalence in the HHT cohort was noted as compared to the general population. However, the prevalence of SBI was higher in HHT patients with PAVMs when compared to that of the general population, particularly among patients than 60 years old. These findings highlight the need to accurately identify, and when appropriate, treat PAVMs in the HHT population especially given the multiple significant, clinical consequences of SBI.

Small Intestinal Angioectasia: Characterization, Risk Factors, and Rebleeding.

BACKGROUND: Gastrointestinal angioectasias (AEs) represent the most common vascular malformation within the gastrointestinal tract. This study sought to characterize epidemiologic/comorbid risk factors for AEs, rebleeding, and patterns of anatomic distribution within the small intestine. STUDY: This retrospective observational cohort study included 158 patients with AEs on capsule endoscopy (CE) from 2007 to 2015. Epidemiologic/comorbid data were collected and incorporated into final analysis. Each AE was categorized by location using a small bowel transit time-based quartile system. Rebleeding was evaluated following CE. Multivariate logistic regression was applied to statistically significant factors on univariate analysis to determine independent risk factors for rebleeding. RESULTS: Most lesions were found in the first quartile (67.1%). Rebleeding occurred in 46 (29.7%) of the 156 patients for whom data were available. Rates of rebleeding were significantly higher among older patients (74.4 vs. 67.7 y, P=0.001), those with active bleeding on CE (41.3% vs. 16.5%, P=0.001), those with a history of aortic stenosis (21.7% vs. 9.2%, P=0.033), and those with AEs presents in quartile 3 (26.1% vs. 8.3%, P=0.003). Age, active bleeding on CE, and AE presence in quartile 3 were independently associated with rebleeding in multivariate analysis (P=0.009, 0.023, and 0.008, respectively). CONCLUSIONS: These data help improve our knowledge of AEs regarding risk factors for rebleeding, and utilizes a novel small bowel transit time-based quartile localization method that may simplify future research and comparisons of anatomic distribution and behavior of small bowel AEs.

Hepatic angiodynamic profile in paediatric patients with hereditary haemorrhagic telangiectasia type 1 and type 2.

BACKGROUND: Liver involvement is a common manifestation of hereditary haemorrhagic telangiectasia (HHT). Although a number of studies have been carried out in adult patients, no study has ever been focused on investigating HHT-related hepatic involvement in paediatric patients. The present study aimed for the first time to systematically estimate the prevalence of HHT-associated liver involvement and to characterize HHT-associated hepatic angiodynamic features in paediatric age. PATIENTS AND METHODS: The study was designed as a cross-sectional survey in an HHT paediatric cohort, subclassified as HHT1 and HHT2 according to the mutated gene. The evaluation of the angiodynamic profile was performed by duplex ultrasound examination. Investigation by multi-slice computed tomography (MSCT) or magnetic resonance angiography (MRA) was performed in patients >12 years. RESULTS: MSCT/MRA examination disclosed silent hepatic involvement in 7/20 (35.0 %) children, and nodular regenerative hyperplasia in two cases. Diameter of common hepatic artery was significantly larger in HHT2 (0.45 ± 0.15 cm) compared to HHT1 (0.33 ± 0.09, p < 0.01) and control children (0.32 ± 0.08, p < 0.05). None of the patients had clinical manifestations of liver involvement. Angiodynamic profiles were different between paediatric and adult HHT patients. CONCLUSIONS: Liver involvement can be detected in paediatric HHT patients, albeit with a lower frequency compared to adults. Paediatric HHT2 children show a higher frequency of liver involvement and a trend to hepatic artery dilation when compared to HHT1 children.

Clinical characteristics of pulmonary arteriovenous malformations in Koreans.

BACKGROUND AND OBJECTIVE: Although pulmonary arteriovenous malformations (PAVMs) are rare, they are important in clinical practice because they are associated with life-threatening complications such as brain abscess, stroke and lung haemorrhage. The aims of the present study were to characterize PAVMs in a Korean population and to examine the incidence and factors associated with cerebral complications, which are a major cause of mortality. METHODS: The medical records of patients with PAVMs between 2000 and 2013 were retrospectively reviewed. PAVMs were confirmed by enhanced chest computed tomography or by pulmonary angiography. RESULTS: Ninety patients (median age, 47.5 years; 81.8% female) with PAVMs were included. Twelve patients (13.3%) were clinically diagnosed with hereditary haemorrhagic telangiectasia (HHT) according to the Curacao criteria. Sixty-three patients underwent transcatheter embolization with no severe adverse events. Three patients required retreatment during a mean follow-up period of 3.3 years. Six and 14 patients suffered brain abscess or stroke, respectively, as a complication of PAVMs. These complications were not associated with the diameter of the arteries feeding the PAVMs (odds ratio, 1.106; 95% confidence interval, 0.895-1.366; P = 0.352) CONCLUSIONS: PAVMs are less associated with HHT in Koreans than in Western populations. Transcatheter embolization of PAVMs is safe and effective, and physicians need to consider treating the small arteries feeding PAVMs to prevent cerebral complications.

Pulmonary arteriovenous malformations.

Within the past decade, pulmonary arteriovenous malformations (PAVMs) have evolved from rare curiosities to not uncommon clinical states, with the latest estimates suggesting a prevalence of ~1 in 2,600. PAVMs provide anatomic right-to-left shunts, allowing systemic venous blood to bypass gas exchange and pulmonary capillary bed processing. Hypoxemia and enhanced ventilatory demands result, although both are usually asymptomatic. Paradoxical emboli lead to strokes and cerebral abscesses, and these commonly occur in individuals with previously undiagnosed PAVMs. PAVM hemorrhage is rare but is the main cause of maternal death in pregnancy. PAVM occlusion by embolization is the standard of care to reduce these risks. However, recent data demonstrate that currently recommended management protocols can result in levels of radiation exposure that would be classified as harmful. Recent publications also provide a better appreciation of the hematologic and cardiovascular demands required to maintain arterial oxygen content and oxygen consumption in hypoxemic patients, identify patient subgroups at higher risk of complications, and emphasize the proportion of radiologically visible PAVMs too small to treat by embolization. This review, therefore, outlines medical states that exacerbate the consequences of PAVMs. Chief among these is iron deficiency, which is commonly present due to concurrent hereditary hemorrhagic telangiectasia: iron deficiency impairs hypoxemia compensations by restricting erythropoiesis and increases the risk of ischemic strokes. Management of periodontal disease, dental interventions, pulmonary hypertension, and pregnancy also requires specific consideration in the setting of PAVMs. The review concludes by discussing to what extent previously recommended protocols may benefit from modification or revision.

Natural history of brain arteriovenous malformations: a systematic review.

OBJECT: The authors aimed to systematically review the literature to clarify the natural history of brain arteriovenous malformations (BAVMs). METHODS: The authors searched PubMed for one or more of the following terms: natural history, brain arteriovenous malformations, cerebral arteriovenous malformations, and risk of rupture. They included studies that reported annual rates of hemorrhage and that included either 100 patients or 5 years of treatment-free follow-up. RESULTS: The incidence of BAVMs is 1.12-1.42 cases per 100,000 person-years; 38%-68% of new cases are first-ever hemorrhage. The overall annual rates of hemorrhage for patients with untreated BAVMs range from 2.10% to 4.12%. Consistently implicated in subsequent hemorrhage are initial hemorrhagic presentation, exclusively deep venous drainage, and deep and infrantentorial brain location. The risk for rupture seems to be increased by large nidus size and concurrent arterial aneurysms, although these factors have not been studied as thoroughly. Venous stenosis has not been implicated in increased risk for rupture. CONCLUSIONS: For patients with BAVMs, although the overall risk for hemorrhage seems to be 2.10%-4.12% per year, calculating an accurate risk profile for decision making involves clinical attention and accounting for specific features of the malformation.

Smoking is a negative predictor of arteriovenous malformation posttreatment obliteration: analysis of vascular risk factors in 774 patients.

OBJECT: Cigarette smoking has been well established as a risk factor in vascular pathology, such as cerebral aneurysms. However, tobacco's implications for patients with cerebral arteriovenous malformations (AVMs) are controversial. The object of this study was to identify predictors of AVM obliteration and risk factors for complications. METHODS: The authors conducted a retrospective analysis of a prospectively maintained database for all patients with AVMs treated using surgical excision, staged endovascular embolization (with N-butyl-cyanoacrylate or Onyx), stereotactic radiosurgery (Gamma Knife or Linear Accelerator), or a combination thereof between 1994 and 2010. Medical risk factors, such as smoking, abuse of alcohol or intravenous recreational drugs, hypercholesterolemia, diabetes mellitus, hypertension, and coronary artery disease, were documented. A multivariate logistic regression analysis was conducted to detect predictors of periprocedural complications, obliteration, and posttreatment hemorrhage. RESULTS: Of 774 patients treated at a single tertiary care cerebrovascular center, 35% initially presented with symptomatic hemorrhage and 57.6% achieved complete obliteration according to digital subtraction angiography (DSA) or MRI. In a multivariate analysis a negative smoking history (OR 1.9, p = 0.006) was a strong independent predictor of AVM obliteration. Of the patients with obliterated AVMs, 31.9% were smokers, whereas 45% were not (p = 0.05). Multivariate analysis of obliteration, after controlling for AVM size and location (eloquent vs noneloquent tissue), revealed that nonsmokers were more likely (0.082) to have obliterated AVMs through radiosurgery. Smoking was not predictive of treatment complications or posttreatment hemorrhage. Abuse of alcohol or intravenous recreational drugs, hypercholesterolemia, diabetes mellitus, and coronary artery disease had no discernible effect on AVM obliteration, periprocedural complications, or posttreatment hemorrhage. CONCLUSIONS: Cerebral AVM patients with a history of smoking are significantly less likely than those without a smoking history to have complete AVM obliteration on follow-up DSA or MRI. Therefore, patients with AVMs should be strongly advised to quit smoking.

Prevalence of pulmonary arteriovenous malformations in children versus adults with hereditary hemorrhagic telangiectasia.

It is unclear whether pulmonary arteriovenous malformations (PAVMs) in hereditary hemorrhagic telangiectasia develop later in life or are preformed in childhood. We show that the prevalence of PAVMs in children is similar to that in their parents, providing evidence against de novo PAVM formation in hereditary hemorrhagic telangiectasia.

Hereditary hemorrhagic telangiectasia: arteriovenous malformations in children.

OBJECTIVE: To evaluate the clinical features in a large cohort of pediatric patients with genetically confirmed hereditary hemorrhagic telangiectasia (HHT) and to identify possible predictors of arteriovenous malformation (AVM) onset or clinical significance. STUDY DESIGN: Prospective cross-sectional survey of all children subjected to screening for AVMs in the multidisciplinary HHT center. All patients proved to be carriers of endoglin mutations or activin A receptor type-II-like kinase 1 mutations, defined as HHT1 and HHT2, respectively. A full clinical-radiological protocol for AVM detection was adopted, independent from presence or absence of AVM-related symptoms. RESULTS: Forty-four children (mean age, 10.3 years; range, 1-18) were subjected to a comprehensive clinical-radiologic evaluation. This investigation disclosed cerebrovascular malformations in 7 of 44 cases, pulmonary AVMs in 20 of 44 cases, and liver AVMs in 23 of 44 cases. Large visceral AVMs were found in 12 of 44 children and were significantly more frequent in patients with HHT1. Only large AVMs were associated with symptoms and complications. CONCLUSIONS: Children with HHT have a high prevalence of AVMs; therefore, an appropriate clinical and radiological screening protocol is advisable. Large AVMs can be associated with complications in childhood, whereas small AVMs probably have no clinical risk.

Persistent trigeminal artery/persistent trigeminal artery variant and coexisting variants of the head and neck vessels diagnosed using 3 T MRA.

AIM: To report the prevalence and characteristic features of persistent trigeminal artery (PTA), PTA variant (PTAV), and other variants of the head and neck vessels, identified using magnetic resonance angiography (MRA). MATERIALS AND METHODS: The three-dimensional (3D) time of flight (TOF) MRA and 3D contrast-enhanced (CE) MRA images of 6095 consecutive patients who underwent 3 T MRA at Liaocheng People's Hospital from 1 September 2008 through 31 May 2012 were retrospectively reviewed and analysed. Thirty-two patients were excluded because of suboptimal image quality or internal carotid artery (ICA) occlusion. RESULTS: The prevalence of both PTA and PTAV was 0.63% (PTA, 26 cases; PTAV, 12 cases). The prevalence of coexisting variants of the head and neck vessels in cases of PTA/PTAV was 52.6% (20 of 38 cases). The vascular variants that coexisted with cases of PTA/PTAV were as follows: the intracranial arteries varied in 10 cases, the origin of the supra-aortic arteries varied in nine cases, the vertebral artery (VA) varied in 14 cases, and six cases displayed fenestrations. Fifteen of the 20 cases contained more than two types of variants. CONCLUSION: The prevalence of both PTA and PTAV was 0.63%. Although PTA and PTAV are rare vascular variants, they frequently coexist with other variants of the head and neck vessels. Multiple vascular variations can coexist in a single patient. Recognizing PTA, PTAV, and other variants of the head and neck vessels is crucial when planning a neuroradiological intervention or surgery. Recognizing the medial PTA is very important in clinical practice when performing trans-sphenoidal surgery on the pituitary as failure to do so could result in massive haemorrhage.

Prospective evaluation of the incidence of uterine vascular malformations developing after abortion or delivery.

STUDY OBJECTIVE: To describe the incidence of uterine vascular malformations (UVMs) including uterine arteriovenous malformations (AVMs) in patients after abortion or delivery and in outpatients. DESIGN: Prospective study (Canadian Task Force classification II-3). SETTING: Fukushima Red Cross Hospital. PATIENTS: Six patients with a UVM including 1 with an AVM. INTERVENTIONS: Clinical screening of patients using transvaginal color Doppler ultrasonography between April 2010 and March 2012. MEASUREMENTS AND MAIN RESULTS: The incidence of UVM developing after abortion or delivery or in outpatients was prospectively evaluated using transvaginal color Doppler ultrasonography. From 959 patients, we identified 6 (0.63%) with UVMs, including 1 (0.10%) with a uterine AVM. Specifically, we detected UVMs in 4 of 77 patients (5.2%) after abortion, 1 of 458 patients (0.22%) after delivery, and 1 of 424 outpatients (0.24%). Four patients after abortion and 1 after delivery reported mild symptoms, which were treated conservatively; however, the outpatient had a severe uterine AVM, which was confirmed via 3-dimensional computed tomography angiography. CONCLUSION: The incidence of UVMs was relatively higher, in particular in the patients after abortion, and was significantly higher than that in postpartum or outpatient groups. Therefore, it is important to consider the possibility of UVMs in any patient with episodes of unexplained uterine bleeding and to perform follow-up analysis using color Doppler ultrasonography. Such an approach will facilitate accurate diagnosis and lead to appropriate clinical management to prevent unnecessary dangerous repeat curettage, which might induce profuse uterine bleeding.