Multiple Arteriovenous Malformations Research Articles

Multiple Serial Aneurysms of Brachial Artery With Multiple Arteriovenous Malformations of Forearm

Brachial arterial aneurysm is a rare entity. We present a case of multiple serial aneurysms of the brachial artery with associated multiple arteriovenous malformations of the forearm, along with symptoms of distal ischemia and its surgical management.

Multiple arteriovenous malformations of the brain: A case report

Introduction: In the general population the incidence of arteriovenous malformations (AVM) is ˜1 per 100.000 per year. About 9% of patients with cerebral vascular lesions suffer from multiple AVMs. Multiple AVMs often become evident during the course of disease. Some patients with multiple AVMs can be assigned to Rendu-Osler-Weber or Parkes-Weber-Syndrom (RASA I).

Pulmonary arteriovenous malformation: Two sibling cases

Pulmonary arteriovenous malformations, are abnormal connections between pulmonary arteries and veins. However it can be presented as an isolated single anomaly, also may be multiple when accompanying with autosomal dominant hereditary hemorrhagic telengiectasia (Rendu-Osler-Weber Syndrome; ROWS). In this case report, two patients operated with the diagnosis of multiple pulmonary arteriovenous malformation familial screening done with the possibility of ROWS and pulmonary arteriovenous malformation found in her sister, are presented.

Ileal Varices Causing Massive Gastrointestinal Hemorrhage in a Cirrhotic Patient

Purpose: Introduction: Esophageal variceal hemorrhage is a common complication of portal hypertension, but rarely ectopic varices may present a diagnostic challenge. Bleeding from non-stomal jejunal and ileal varices is exceedingly rare; we report a case of recurrent massive gastrointestinal hemorrhage from ileal varices in a patient with alcohol related cirrhosis. Case: A 53-year-old male with a history of alcoholic cirrhosis presented with bright red blood per rectum. His previous surgical history included the repair of an umbilical hernia 4 years ago. He was hypotensive with a hemoglobin of 4 gm/dl. He had multiple previous admissions for obscure gastrointestinal bleeding over the previous 6 months. Prior workup included multiple upper endoscopies showing grade 1 esophageal varices and mild portal hypertensive gastropathy with no active bleeding, an unremarkable colonoscopy and a negative nuclear bleeding scan. A capsule endoscopy showed active bleeding in the distal ileum, followed by single balloon enteroscopy from below showing multiple terminal ileal arteriovenous malformations which were treated with Argon plasma coagulation. He was treated as an out patient with subcutaneous octreotide and a transplant evaluation was started. During this hospitalization, a visceral angiogram was done and was negative. The patient required continuous transfusion of blood products to stabilize the active bleeding. A computed tomography (CT) scan of the liver showed collateral vessels arising from the paraumbilical vein adjacent to the distal small bowel. A venogram further defined this as a cluster of ileal varices. Subsequently, the ileal varices were coil embolized and a transjugular intrahepatic portosystemic shunt (TIPS) was inserted. His bleeding stopped after this. He received a total of 63 units of PRBCs, 48 units of FFPs, 70 cryoprecipitate and 56 units of platelets. His liver function declined and his MELD score was 24. He underwent orthotopic liver transplantation 4 days after TIPS. Intra-operatively he was noted to have multiple adhesions around the distal small bowel. His post operative course was unremarkable, with no recurrence of bleeding. Conclusion: Ileal varices represent a rare form of ectopic varices in patients with portal hypertension and their formation may be the result of collateral circulation through postoperative adhesion between the ileum and the abdominal wall. Diagnosis is a challenge, and endoscopy is rarely definitive. A high index of suspicion and the utilization of imaging modalities including CT, angiography, and nuclear studies can assist in establishing the diagnosis and prompt treatment.

Hepatic Arteriovenous Malformations from Hereditary Hemorrhagic Telangiectasia: Treatment with Liver Transplantation

A 47-year-old handyman presented to the emergency department with worsening exertional dyspnea and persistent lassitude at rest for 2 weeks. He had experienced moderate unremitting epigastric pain over the preceding months requiring narcotics, as well as intermittent jaundice and low-grade fever. His epigastric pain frequently worsened after meals, resulting in anorexia and weight loss, but also was present at rest and radiated through to his back. He denied epistaxis, hemoptysis, and gingival or gastrointestinal bleeding. Although he admitted binge drinking of alcohol in the past, without obvious social or medical complications, he had been sober for several years. He continued to chew tobacco daily. His mother reportedly had alcoholic liver disease, and his two children were healthy. Physical examination revealed a slender man with a fever of 102 F but in no obvious distress. His conjunctivae were anicteric, and his oropharynx did not reveal any lesions or bleeding. His breath sounds were normal. Cardiac examination revealed tachycardia, a 3/6 systolic ejection murmur best heard over the apex, and jugular venous distention. His abdomen was soft and not distended, but tender over the epigastrium, where a loud bruit was also present. The liver and spleen were both enlarged. No jaundice, palmar erythema, or rashes were present. The patient was fully alert and oriented, without asterixis. Comprehensive laboratory studies were significant for a normocytic anemia with a hematocrit of 35%, mild thrombocytopenia with a platelet count of 142,000/mm, and abnormal liver tests with a total bilirubin of 3.7 mg/dl, aspartate aminotransferase (AST) 43 U/l, alanine aminotransferase (ALT) 55 U/l, and alkaline phosphatase of 579 U/l. His international normalized ratio for prothrombin time (INR) was normal at 1.1. B-type natriuretic peptide was elevated at 1,067 pg/ml. Blood cultures grew Streptococcus anginosus (a member of the Streptococcus milleri family). Echocardiogram revealed moderate left ventricular enlargement with normal left ventricular systolic function, and mild right ventricular enlargement with mildly decreased right ventricular systolic function. There was trace aortic regurgitation and mild mitral regurgitation, with increased aortic flow velocity with a mean gradient of 19 mmHg. There was also mild tricuspid regurgitation with an estimated right ventricular systolic pressure of 51 mmHg. No other valvular lesions or vegetations were found. Abdominal computed tomography (CT) revealed diffuse angiomatous tissue within the liver, early opacification of all hepatic veins, and low-attenuation tissue in segment 7 of the liver likely representing biliary necrosis (Fig. 1). Abdominal magnetic resonance imaging (MRI) confirmed the diffuse heterogeneous enhancement of the liver and presence of multiple arteriovenous malformations (Fig. 2). Angiography was performed, and the initial aortogram revealed a hugely dilated celiac artery and replaced left hepatic and common hepatic arteries (Fig. 3). The proper M. Lee (&) T. J. Daugherty Division of Gastroenterology and Hepatology, Department of Medicine, Stanford University Medical Center, 300 Pasteur Drive, Alway Building, M211, Stanford, CA 94305-5187, USA e-mail: maxlee@stanford.edu

Síndrome de Rendu-Osler-Weber: causa infrecuente de hipoxemia en la infancia

Hereditary haemorrhagic telangiectasia or Rendu-Osler-Weber syndrome is a rare genetic autosomic dominant disorder with an estimated prevalence of one in 3000–5000 individuals. This multisystemic vascular dysplasia is determined by the mutation of two main genes which are endoglin (ENG) or HHT1 and ALK1 or HHT2. These mutations induce the vascular disorders which cause recurrent epistaxis and eventually multiple telangiectasias and arteriovenous visceral malformations (AVM). We report the case of an 11-year-old boy who developed severe hypoxaemia due to multiple pulmonary arteriovenous malformations.

Platypnoea, clubbing, and epistaxis in a 61-year-old man

In May, 2009, a 61-year-old man presented with a spontaneous nosebleed, a 2-month history of worsening shortness of breath, and platypnoea. He suff ered from frequent epistaxis. The only abnormalities on physical examination were telangiectasia of his nasal mucosa, pallor, and clubbing. Oxygen saturation on room air was 92% lying down, and 83% sitting; arterial blood oxygen was 62 mm Hg. Haemoglobin concentration was 68 g/L, MCV was 51 fL, and reticulocyte count was 1%. Investigations for anaemia revealed severe iron defi ciency. A chest radiograph showed a mass in the right lower lobe (fi gure A), and contrast-enhanced CT revealed multiple pulmonary arteriovenous malformations (fi gure B). On the basis of the history of recurrent epistaxis with telangiectasia and pulmonary arteriovenous malformations, hereditary haemorrhagic telangiectasia (HHT) was diagnosed. We found a single arteriovenous malformation in the cerebellum during screening of other organs. A contrast-enhanced abdominal CT was normal and endoscopy excluded bleeding into the gastrointestinal tract; we decided that epistaxis was the cause of our patient’s anaemia. We treated his epistaxis with endonasal coagulation, and the feeding arteries of his pulmonary arteriovenous malformations were embolised; his platypnoea dramatically improved. He decided to leave his cerebellar aneurysm untreated, after considering risks and harms of treatment. He was discharged on oral tranexamic acid and iron treatment. A chest CT in November, 2009, showed no reperfusion of his arteriovenous malformations, and he remained asymptomatic. The patient and his family underwent genetic testing for HHT, but no known causal mutations were identifi ed. HHT is inherited as an autosomal-dominant trait. Mutations in genes that modulate signalling by transforming growth factor β lead to aberrant vasculogenesis. Manifestations generally present in early adulthood; recurrent epistaxis is the earliest and most common symptom and can cause iron-defi ciency anaemia, as in our patient. Telangiectases and arteriovenous malformations can also occur in the pulmonary, gastrointestinal, and hepatic vasculature. Pulmonary arteriovenous malformations can grow and reperfuse with time, and cause life-threatening complications, such as stroke and cerebral abscess due to paradoxical embolisation. Our patient became dyspnoeic possibly owing to progressive growth of his pulmonary arteriovenous malformations and worsening anaemia. Hypoxaemia, platypnoea, and clubbing also occur when shunted blood is not oxygenated. The re commended screening test for pulmonary arteriovenous malformations is transthoracic contrast echocardio graphy. Chest CT is confi rmatory. Endoscopy is needed to exclude gastrointestinal arterio venous malformations, and doppler ultrasonography or abdominal CT is used to seek malformations in the liver. Cerebral malformations are usually clinically silent but can cause seizures and haemorrhage; contrast MRI is a safe method of screening for these malformations. Angiography is the goldstandard test to diagnose any arteriovenous malformation. HHT is diagnosed clinically on the basis of epistaxis, telangiectases, visceral arteriovenous malformations, and a fi rst-degree relative with the disease. HHT is defi nite if more than three of these criteria occur. Endonasal humidifi cation or coagulation can treat epistaxis and gastrointestinal bleeding can be controlled by endoscopic ablation. Medical treatment includes oestrogen preparations and antifi brinolytics to limit bleeding; clinical trials of angiogenesis inhibitors, immuno suppressants, and thalidomide are underway. Pulmonary arteriovenous malformations should be embolised. Antibiotic prophylaxis is required before procedures that carry a risk of bacteraemia. Asymptomatic cerebral arteriovenous malformations should be managed only after discussion of the risks and benefi ts with the patient.

Intracardiac defect demonstrated by cardiac CTA

A 50-year-old woman with history of multiple pulmonary arteriovenous malformation embolisations caused by hereditary haemorrhagic telangectasia (Rendu-Osler-Weber syndrome), complained of atypical chest pain and dyspnea. Electrcardiographic (ECG) findings were normal and the bicycle stress test was equivocal. ECG-gated 64-row cardiac multidetector computed tomography (MDCT) showed no significant coronary stenosis, but a membranous ventricular septal defect (VSD) (Fig. A, B). Patient responded well to a treatment with beta-adrenergic blocker (Carvedilol 3.125 mg/day), and considering the surgical risks, no attempt to close the VSD was performed.

Paradoxical embolism causing stroke and migraine

This case report describes a lady who underwent investigations as a part of a clinical study. A 32-year-old woman with a history of episodes of severe migraine with aura, deep vein thrombosis and recurrent epistaxis, presented with two episodes of stroke with no particular cause evident on routine investigations. A contrast echocardiogram demonstrated a patent foramen ovale (PFO). She was found to be positive for the Factor V Leiden mutation. The PFO was closed percutaneously. However, a substantial right to left shunt of 14% persisted. Pulmonary angiography revealed multiple arterio-venous malformations (AVMs) and she was diagnosed with hereditary hemorrhagic telangiectasia. The AVMs were embolized and she has had no further cerebral events. Interestingly, her episodes of 'migraine' have also improved dramatically following the closure of the PFO and the embolization of the AVMs. This case demonstrates the complex relationship between right to left shunts, cryptogenic stroke and migraine.

Clinical Improvement After Banding of a Pulmonary Branch Artery in a Symptomatic Patient with Osler–Rendu–Weber Syndrome

We report a symptomatic newborn with Osler-Rendu-Weber syndrome, multiple and diffuse pulmonary arteriovenous malformations, and right-to-left shunting in the left lung. Right-to-left shunting was significantly decreased by selectively banding the left pulmonary branch artery and clipping one large feeding vessel so that total resection of the left lung could be avoided.

Multiple pulmonary arteriovenous malformations presenting as an acute myocardial infarction

Pulmonary arteriovenous malformations are rare, mostly asymptomatic vascular anomalies. These malformations cause direct right to left shunting of unoxygenated blood, resulting chronically in cyanosis, dyspnea, and exercise intolerance. The serious complications reported earlier have mainly been neurologic, for example, cerebrovascular accidents and brain abscesses and are most likely caused by paradoxical embolism. Detection of pulmonary arteriovenous malformations is challenging, and the emergency department personnel play an essential role. Once suspected, the diagnosis can be made promptly using standard imaging techniques and appropriate treatment may prevent serious complications. In this report, we describe a case of a 41-year-old man with acute anterior myocardial infarction, unexpectedly caused by emboli from pulmonary arteriovenous malformations. This rare etiology of acute myocardial infarction should be taken into consideration especially in cases with atypical presentation.

Covered Stent to Treat Pulmonary Arteriovenous Malformation with Short Feeding Artery

A patient with hereditary hemorrhagic telangiectasia and multiple bilateral pulmonary arteriovenous malformations (PAVMs) was found to have a complex PAVM in the left upper lobe with two feeder vessels, one of which could be successfully embolized with coils but the other of which was extremely short. Preservation of the parent vessel was considered important as it supplied a large portion of the left upper lobe. A covered stent was used to successfully exclude the feeding vessel and treat the PAVM. At 6-month follow-up, the PAVM sac was gone and the stent remained patent.

Multiple Symptomatic Cerebral Arteriovenous Malformations in a Patient with HIV

This brief case report describes an unusual presumed association of chronic HIV infection with multiple cerebral arteriovenous malformations. An adult male patient presented with recurrent spontaneous brain intracranial hemorrhages and neurologic deficits requiring surgical evacuation. The diagnosis was delayed because of lack of a high index of suspicion of this unexpected and previously unrecognized association.

Anaesthetic management of parturients with hereditary haemorrhagic telangiectasia for caesarean section

Hereditary haemorrhagic telangiectasia, also known as Osler-Weber-Rendu disease, is a vascular disorder characterized by multiple mucocutaneous and visceral arteriovenous malformations. There is little in the literature about the anaesthetic management of parturients with this condition. We report the anaesthetic management for caesarean section of two such parturients. One patient, with significant pulmonary involvement, received neuraxial anaesthesia for caesarean delivery. The second patient had general anaesthesia because investigations could not rule out neurological involvement. We review and discuss the anaesthetic considerations for obstetric patients with hereditary haemorrhagic telangiectasia.

Two juvenile polyps, hereditary hemorrhagic telangiectasia and SMAD4 mutation

An adolescent girl with recurrent iron deficiency anemia, epistaxis, cyanosis, hypoxemia, clubbing, two juvenile polyps in the colon, oro-naso-pharyngeal telangiectasias, multiple arterio-venous malformations of the lungs, and a new homozygous mutation in SMAD4 gene is reported. Patients with juvenile polyps should be examined carefully for mucocutaneus findings and digital clubbing. When a combination of these signs is noted, a genetic testing is warranted inspite of low polyp count in order to prevent potential risk of malignancy and other complications.

BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia

Pulmonary arterial hypertension (PAH) and hereditary hemorrhagic telangiectasia (HHT) are distinct clinical entities caused by germline mutations in genes encoding members of the TGFbeta/BMP superfamily: BMPR2 in PAH and ACVRL1, ENG, or SMAD4 in HHT. When PAH and HHT occasionally co-exist within the same family, ACVRL1 mutations predominate. We report a 36-year-old woman initially diagnosed with PAH at age 24. At 35, following massive hemoptysis, multiple pulmonary arteriovenous malformations were discovered, prompting evaluation for HHT. She met the Curaçao diagnostic criteria for suspected HHT based on additional findings of nasal telangiectases and epistaxis. Mutation analysis of ACVRL1, ENG, and SMAD4 was normal, but a germline nonsense mutation in BMPR2 was identified. This is the first known report of HHT features, particularly pulmonary AVMs, associated with a BMPR2 mutation. It adds further weight to a common molecular pathogenesis in PAH and HHT, and highlights that BMPR2 gene analysis is indicated in patients affected with both HHT and PAH.

Transcatheter Closure of Bilateral Multiple Huge Pulmonary Arteriovenous Malformations with Homemade Double-Umbrella Occluders

A 28-year-old man underwent successful transcatheter occlusion of three huge pulmonary arteriovenous malformations (PAVMs) using homemade double-umbrella occluders and stainless steel coils. Thoracic CT with three-dimensional reconstruction and pulmonary angiography were used for treatment planning and follow-up. The diameters of the feeding vessels were 11 mm, 13 mm, and 14 mm, respectively. This report demonstrates the novel design and utility of the double-umbrella occluder, an alternative tool for treatment of large PAVMs.

Treatment of multiple arteriovenous malformations in pediatric patients with hereditary hemorrhagic telangiectasia and spontaneous hemorrhage

Due to inheritance of an autosomal dominant genetic mutation, patients with hereditary hemorrhagic telangiectasia (HTT) have an increased risk of harboring a cerebral arteriovenous malformation (AVM). They are also significantly more likely to have multiple AVMs. The natural history of AVMs in patients with HHT as well as their rate of hemorrhage is not clearly defined. Furthermore, spontaneous regression of such lesions has been reported. Treatment of cerebral AVMs in patients with HHT presents a particular challenge, especially with detection of incidental lesions following screening of asymptomatic patients. The management of HHT in two pediatric patients in whom hemorrhaging from a cerebral AVM occurred but who also had other lesions is presented here. Both patients were treated with stereotactic radiosurgery.

Oral 11, Potential life-threatening complications of vascular malformations

We present two patients with vascular anomalies which illustrate important learning points. Patient 1 was a 7‐year‐old girl who was being followed up for a vascular malformation which had been present at birth and had slowly enlarged over the years. It was located midline, overlying her thoracic spine. Magnetic resonance (MR) imaging revealed the lesion to be an arteriovenous malformation. An MR angiogram, performed to delineate further the extent of involvement around the spine, surprisingly revealed multiple pulmonary arteriovenous malformations. The patient admitted to having regular nosebleeds but was otherwise asymptomatic and had no telangiectasia on her face or in her mouth. There was no family history of bleeding disorders. Genetic testing has confirmed hereditary haemorrhagic telangiectasia. We present this girl to highlight the significance of midline vascular lesions, which should be treated with suspicion and physicians should have a low threshold for investigation. Patient 2 was an 18‐year‐old man attending the multidisciplinary vascular anomalies clinic with an extensive lymphatic venous malformation present since birth. Imaging showed this involved the bladder and rectum, and extended the whole way down the left leg to include the foot. Over the years he was troubled with haematuria, rectal bleeding, and recurrent painful episodes. D‐dimers were elevated. His condition was complicated by bilateral extensive pulmonary emboli and he was started on low‐molecular‐weight heparin. Despite this he went on to suffer a fatal pulmonary embolus 2 months later. These cases highlight the associated risks of vascular malformations.

Craniofacial Vascular Malformations in Wyburn-Mason Syndrome

Wyburn-Mason syndrome (WMS) is a rare syndrome associated with multiple arteriovenous malformations (AVMs) involving the orbit, brain and/or face. The purpose of this study was to analyze the imaging spectrums of craniofacial vascular malformations in 14 patients with WMS. The medical records of 14 patients with the diagnosis of WMS who underwent neuroimaging studies (computed tomography [CT], 8; magnetic resonance imaging [MRI], 12; conventional angiography, 14) were reviewed, emphasizing the location, extension and type of facial, orbital and brain vascular malformations. Complete WMS was defined as vascular malformations involving all the 3 zones of the face, orbit and brain, while partial WMS was considered as vascular malformation distributed in 2 zones. The craniofacial vascular malformations were confined on the left side in 7 patients, 2 were found on the right side, while the remaining other 5 patients had midline brain AVMs involving both sides. All but 1 of these 14 patients had orbital and/or brain AVMs; facial vascular malformations were documented in 5 patients. The most common site of involvement was the optic nerve (n = 12), followed by the retina (n = 10), optic chiasma/hypothalamus (n = 9), thalamus (n = 7), basal ganglion (n = 5), midbrain (n = 2), occipital lobe (n = 1), temporo-occipital lobe (n = 1) and fronto-temporo-parieto-occipital lobe (n = 1). The complete form of WMS was found in 2 patients and the partial form in 12. CT, MRI and conventional angiography have the capacity to demonstrate the extent of intracranial AVMs. However, MRI is superior to both CT and angiography for detecting the size, extent of AVMs and the effects of AVMs on adjacent brain. Conventional angiography is superior to both CT and MRI in determining the detailed angioarchitecture of AVMs. WMS has a wide spectrum of multiple AVMs involving unilateral or bilateral craniofacial regions. The most common involved site is the orbit, followed by the brain. WMS should be considered in patients with ocular AVMs associated with brain AVMs.