Congenital Arteriovenous Fistula Research Articles

Progressive headache and neck pain associated with neck rotation due to a congenital external carotid-jugular arteriovenous fistula: illustrative case.

Congenital external carotid-jugular arteriovenous fistulas (AVFs) are often diagnosed based on a pulsatile neck mass. Patients rarely complain of headaches or neck pain. A 45-year-old woman with no history of trauma had been diagnosed with a congenital cervical external carotid AVF 10 years earlier. At that time, only a pulsatile neck mass in the right neck had been observed, and she had been managed conservatively. Over the next 10 years, the right neck mass had enlarged, and she started experiencing unbearable headaches and neck pain when she turned her head. Angiography images showed that the outflow veins, including the external and internal jugular veins, were more dilated and tortuous than they had been 10 years earlier. During neck rotation, the internal jugular vein constricted, causing intracranial venous reflux. Complete occlusion of the shunt was achieved with coils and n-butyl-2-cyanoacrylate. Immediately after surgery, the pulsation in the right neck, the unbearable headaches, and neck pain on neck rotation resolved. Even in adults with congenital cervical external carotid AVFs that have been managed as simple neck masses, progressive dilatation and tortuosity of the outflow veins can, over time, lead to venous reflux during neck rotation and can cause unbearable headaches and neck pain. https://thejns.org/doi/10.3171/CASE24407.

High flow pial arteriovenous fistula with dural sinus malformation of the posterior circulation.

Posterior fossa congenital pial arteriovenous fistulas are rare vascular anomalies associated with high morbidity. These anomalies often present challenges to neurointerventionists due to their complex morphological features. We successfully treated two technically challenging, infratentorial large pial arteriovenous fistulas (AVFs) associated with complete flow steal in the basilar artery. The first case involved an 18-year-old male with a posterior fossa single-hole AVF characterized by dilated venous pouches and retrograde venous reflux. After an unsuccessful initial coiling attempt, this patient was treated using a double microcatheter coiling technique, supported by a large balloon for flow control. The second case involved a 9-month-old infant with a complex two-hole posterior fossa pial AVF and a large venous sac. This patient was treated with coil embolization of the fistula and with balloon protection of the vertebrobasilar junction. Both patients recovered without postoperative complications and showed significant improvement on follow-up. These cases provide valuable insights into the management and characteristics of pial arteriovenous fistulas.

Congenital renal arteriovenous fistula with giant arterial and venous aneurysms formation

Congenital renal arteriovenous fistula with giant arterial and venous aneurysms formation

Prenatal Diagnosis and Prognosis of Abdominal Arteriovenous Fistulae: A Comprehensive Case Series and Systematic Review.

This study had two main objectives. Firstly, we conducted a thorough literature review on the prenatal diagnosis of abdominal congenital arteriovenous fistulas (CAVFs) involving the abdominal aorta and hepatic arteries. Secondly, we aimed to provide detailed descriptions of eight additional cases diagnosed at our medical center and assess the outcome of this anomaly for informed counseling. We conducted a systematic search of online databases using specific keywords like "outcome", "ultrasound", "intrahepatic fistulae", and "fetal venous anomalies", focusing on studies published between 1998 and 2023. We selected 10 relevant articles and analyzed 13 cases. Additionally, we conducted a five-year prospective study in two referral centers, identifying eight CAVF cases with an incidence rate of 0.16%. Among the 21 cases evaluated, 11 resulted in live births, all of which received treatment. However, four cases (36.3%) had poor postnatal outcomes and neonatal demise due to heart failure. Prenatal signs of poor fetal hemodynamics, including cardiomegaly or hydrops, were observed in 52.3% of cases, regardless of outcome. Our findings highlight the rarity of this vascular malformation and emphasize the importance of effective treatment to avoid unfavorable outcomes. The long-term effectiveness of prenatal treatment or postnatal embolization remains uncertain, with liver transplantation being considered the most reliable treatment option.

A rare congenital pulmonary arteriovenous fistula presenting with recurrent headache and dizziness.

A rare congenital pulmonary arteriovenous fistula presenting with recurrent headache and dizziness.

A “Snake-Like” Vessel in the Thorax

We report a congenital extracardiac arteriovenous fistula revealed incidentally in a patient undergoing computed tomographic coronary angiography for angina. This clinical vignette panel describes the origin and the trajectory of this rare vascular lesion.

Curative transvenous embolization for congenital multi-hole pial arteriovenous fistula.

Congenital intracranial pial arteriovenous fistula (PAVF) is a rare cerebral vascular pathology characterized by a direct shunt between one or more pial feeding arteries and a cortical draining vein. Transarterial endovascular embolization (TAE) is widely considered first line therapy. Curative TAE may not be achievable in the multihole variant due to the potential to harbor innumerable small feeding arteries. Transvenous embolization (TVE) may be considered to target the final common outlet of the lesion. Here, we present a series of four patients with complex multi-hole congenital PAVF treated with staged TAE followed by TVE. A retrospective review was conducted on patients who underwent treatment for congenital, multi-hole PAVFs treated by a combined TAE/TVE approach at our institution since 2013. We identified four patients with multi-hole PAVF treated by a combined TAE/TVE. Median age was 5.2 (0-14.7) years. Median follow-up of 8 (1-15) months by catheter angiography and 38 (23-53) months by MRI/MRA was obtained. TVE achieved complete occlusion in three patients that proved durable on radiographic follow-up and demonstrated excellent clinical outcomes with a modified Rankin Score (mRS) of 0 or 1. Complete occlusion of the draining vein was not achieved by TVE in one case. This patient is graded as pediatric mRS=5 three years post-procedure. With thorough technical considerations, our series indicates that TVE of multi-hole PAVF that are refractory to TAE is feasible and effective in arresting the consequences of chronic, high-flow AV shunting produced by this pathology.

Management of congenital arteriovenous fistula of the brachial artery

Management of congenital arteriovenous fistula of the brachial artery

Clinical Utility of Next-Generation Sequencing Panel Testing in the Evaluation of Arteriovenous Malformations

Abstract Arteriovenous malformations (AVMs) are vascular lesions in which an overgrowth of blood vessels of varying sizes develops with one or more direct connections between the arterial and venous circulation. AVMs are seen in sporadic and syndromic conditions that are caused by a variety of genomic alterations. Here, we performed a retrospective review of the cases sent for next-generation sequencing (NGS) analysis for diseases of somatic mosaicism (DoSM). Specimens from 54 patients with clinical indication of AVMs were submitted for the DoSM NGS panel between October 2013 and Dec 2021. DNA extraction and sequence analysis were performed on affected tissues, including fresh tissue, formalin-fixed paraffin-embedded tissue, fibroblast cultures, and buccal specimens. Single-nucleotide variants (SNVs) with variant allele fractions (VAFs) greater than 3% and small insertions and deletions (indels, <21 bp) were called using VarScan2, Genome Analysis Toolkit (GATK), and Pindel. Variants with VAFs between 1-3% were manually reviewed based on the sequencing data quality and the known clinical significance. 38/54 (69.1%) patients were females and 16/54 (30.9%) were males. Ages ranged from 1 month to 73 years (median age 17 years). Most of the patients were indicated with sporadic AVM (81%), although additional clinical indications were noticed, including unspecified congenital vascular malformation (9.1%), capillary malformation (5.5%), arteriovenous fistula, and AVM associated with capillary and lymphatic malformations (1.8% each). The biopsied lesion was most often located in the head (43.6%), followed by the limbs (30.9%), and unspecified areas of the body in the remaining 25.5%. Among the 54 cases, 37 (68.5%) cases had pathogenic and/or likely pathogenic (P/LP) variants identified, 2 cases (3.7%) had variants of unknown significance, and the remaining 15 cases (27.8%) had negative results. MAP2K1 variants were found in 12 samples, followed by KRAS (8), TEK (7), PTEN (5), BRAF (4), TSC2 (2), HRAS (2), RASA1 (2), and PDGFRB (1). Of note, four cases had two P/LP variants. Among the 37 positive cases, 32 cases had somatic alterations; the remaining 5 cases had at least one germline P/LP variant, including PTEN (4) and RASA1 (1). In summary, the diagnostic yield of cases with clinical indication of AVMs was 68.5% using our in-house DoSM NGS panel. This study demonstrates the clinical utility of the DoSM NGS panel testing in the evaluation of a cohort with clinical presentations of AVMs.

A Rare Congenital Arteriovenous Fistula between Right Subclavian Artery and Innominate Venous in an Adult.

A Rare Congenital Arteriovenous Fistula between Right Subclavian Artery and Innominate Venous in an Adult.

Perinatal observation of large congenital pial arteriovenous fistula before and after surgery: A case report

Pial arteriovenous fistula (PAVF) is an extremely rare type of intracranial vascular congenital anomalies. The presented clinical case is a unique example of intrauterine diagnosis of PAVF using fetal MRI at 30 weeks of gestation, which allowed successful surgical treatment in the early neonatal period. The case demonstrates the capabilities of fetal MRI in the diagnosis of PAVF and estimation of accompanying brain changes, which are fully consistent with the results of postnatal cerebral angiography. Based on neuroimaging data, endovascular embolization of the fistula with detachable microcoils was successfully performed on the 2nd day of the child’s life. A good neurologic outcome of the surgery was stated. Taking into account the known unfavorable outcome of PAVF in the case of untimely surgical treatment, this observation demonstrates the need to use fetal MRI for prenatal differential diagnosis of vascular malformations in order to reduce the risk of possible complications and mortality in the early neonatal period.

Congenital systemic arteriovenous fistulas: Interventional strategies and embryological perspectives.

Background:Data on congenital systemic arteriovenous fistulas are largely based on individual case reports. A true systemic arteriovenous fistula needs to be differentiated from other vascular malformations like capillary or venous hemangiomas, which are far more common.Objectives:We sought to identify the varied symptoms, diagnostic challenges, describe interventional treatment options, and postulate an embryological basis for this uncommonly described entity.Methods:This is a descriptive study of a cohort of systemic arteriovenous fistulas seen in the department of pediatric cardiology at a tertiary cardiac institute from 2010 to 2020, with prospective medium-term follow-up. A total of seven cases were identified. The diagnosis was confirmed by computed tomographic imaging, magnetic resonance angiography, or conventional angiography.Results:All were successfully closed using duct occluders or embolization coils with no recurrence in six cases over a median duration of follow-up of 48 months (interquartile range: 16; 36–52 months). Four of the seven cases underwent follow-up imaging using echocardiography or ultrasound.Conclusion:The incidence of congenital systemic arteriovenous fistulas is low and accounted for 0.009% of pediatric outpatients seen over 10 years at our institute. The spectrum of clinical presentation varies from an innocuous swelling or a pulsating mass to frank heart failure. Strong clinical suspicion and advanced imaging modalities have helped identify some hitherto undescribed connections. Large malformations with multiple communications may persist or recur despite transcatheter closure.

Congenital subclavian-superior vena cava arteriovenous fistula with initial stenosis in an adult: a case report

BackgroundA subclavian-superior vena cava arteriovenous fistula is usually acquired and secondary to trauma or operations, while congenital causes are very rare. A congenital arteriovenous fistula leads to congestive heart failure soon after birth and is typically diagnosed in early infancy.Case presentationWe present an unusual case of a 21-year-old female suffering from new-onset heart failure at 20 years old who was diagnosed with a congenital arteriovenous fistula from the right subclavian artery to the superior vena cava (RSA-to-SVC) with stenosis at the proximal initial site of the fistula. The patient successfully underwent transcatheter occlusion for the fistula and had a significant improvement in symptoms at the 3-month follow-up.ConclusionsAn RSA-to-SVC fistula is a very rare congenital disorder that can lead to shunt-related heart failure. If there is an indication for closure, as with the patient presented, percutaneous device closure can be considered a reasonable option.

Prenatal diagnosis and treatment of intrahepatic arteriovenous fistulas: case reports and the literature review

Background Congenital arteriovenous intrahepatic fistulas, which are hepatic hemangiomas and arteriovenous malformations (AVMs) are rare and they confused with each other. Knowledge of prenatal medical treatment of AVMs is insufficient. Objectives First is to emphasize the distinction between hepatic hemangioma and AVMs. Second is discussion of the first case of hepatic AVM that responded well to steroid-propranolol treatment in the prenatal period. Methods Color Doppler ultrasonography, fetal and postnatal MR were used for diagnosis. Results The first case is a giant hepatic hemangioma diagnosed and progressively growing in the prenatal period and gradually shrinking in the postnatal period. The second case was hepatic AVM with no signs of heart failure during the prenatal period and postnatal right extended hepatectomy was performed as the anastomosis was enlarged and intraportal collateral vessels were developed. The third case is the first hepatic AVM which reaches a term that was prenatally diagnosed and responded to treatment with marked reduction. Conclusion Color flow and pulse Doppler imaging have a key role in the prenatal diagnosis of arteriovenous fistulas. Intrahepatic AVM are abnormal intrahepatic vascular network formation primarily fed by the hepatic artery or its branches and drained by the hepatic venous system. This vascular region looks like a mass, but it does not contain a solid area, which allows the separation of hepatic AVMs from hepatic hemangiomas. Steroid and propranolol therapy should be considered in management.

Clinical Analysis of Transcatheter Embolotherapy for Congenital Pulmonary Arteriovenous Fistulas in Children

Objective: To summarize the clinical features and therapeutic effects of transcatheter embolotherapy for congenital pulmonary arteriovenous fistulas (PAVFs) in children, and to explore the method and therapeutic principle of transcatheter embolotherapy for congenital PAVFs in children. Method: We retrospectively reviewed nine patients with PAVF who underwent transcatheter embolotherapy in the Children’s Hospital of Chongqing Medical University from July 2004 to July 2019, including the demographic characteristics, clinical manifestations, efficiency of closure, and follow-up. Results: Transcatheter embolotherapy was successful in all cases, and the symptom remission rate was 100% during the follow-up. No residual shunts or other complications occurred during the follow-up period. Compared with before embolotherapy, there were significant changes in the percentage of saturated oxyhemoglobin and total hemoglobin level at the last follow-up (t=10.06, P=0.000; t=3.055, P=0.0076). No significant difference was observed in pulmonary artery pressure before and after embolotherapy (t=0.13, P=0.90). Conclusions: Transcatheter embolotherapy offers the advantages of safety, with a decreased risk of trauma and a specific effect of treatment, and therefore is recommended as the first-line treatment for congenital PAVFs in children. However, continued research is necessary to understand the full potential of transcatheter embolotherapy.

Congenital arteriovenous fistula between descending aorta and the left innominate vein

Thoracic aortocaval fistulae are rare entities where a direct shunt between thoracic arteries and systemic veins is seen. They can be traumatic or congenital in origin. Congenital thoracic aortocaval fistulae usually involve descending aorta and azygos, hemiazygos systems. Presenting symptoms range from continuous murmur to signs of congestive heart failure. In this case report, imaging findings of a 3-year-old girl referred for continuous murmur over the left sternal border are presented. Computed tomography angiography revealed multiple tortuous vessels along the descending aorta with a course toward the left brachiocephalic vein, and was suspicious for an aorta-venous fistula. Subsequent digital subtraction angiography for treatment planning showed a fistula originating at the level of the left 6th intercostal artery, with direct drainage into the left brachiocephalic vein without involvement of the azygos/hemiazygos system.

A Successful Case of Liver Transplantation in an Adult With Congenital Hepatic Arteriovenous Fistulae Associated Cardiac Dilatation and Heart Failure

Congenital hepatic arteriovenous fistulae (CHAVF) are direct communications between the hepatic artery and portal vein or hepatic vein. Clinical symptoms of CHAVF depend mainly on the location, duration, and blood flow volume of the fistulae, which are manifested by portal hypertension, hepatic fibrosis, cardiac enlargement, and eventually heart failure.Here we report a female patient aged 54 who was first admitted to our hospital due to recurrent chest tightness and palpitations in March 2014. Metoprolol tartrate and diltiazem hydrochloride were prescribed to control the symptom since nothing unusual was found in coronary angiography and abdominal ultrasound. Until April 2015, the patient's syndrome relapsed and abdominal computed tomography angiography and digital subtraction angiography revealed diffuse arteriovenous fistulae between the branches of hepatic artery and vein. Subsequently, 3 attempts at hepatic arterial embolization were performed; however, her abdominal pain aggravated and her heart discomfort could not be relieved eventually.Therefore, orthotopic liver transplantation as the salvage treatment was performed using a hepatic graft from a 19-year-old cardiac-death donor performed on January 1, 2017. Upon operation, the enlarged right hepatic artery whose diameter was approximately 1.5 cm in this recipient. And we also demonstrated a novel manner that the graft's celiac artery patch was anastomosed to the recipient's proper hepatic artery and gastroduodenal artery patch, which could reduce the blood flow successfully. The patient recovered uneventfully and was discharged home on the postoperatively 15th day. Since her liver transplantation, she has not complained of cardiac discomfort and abdominal pain, and her heart size has returned to normal on echocardiography. The hepatic artery peak velocity reduced to normal and the heart shadow also recovered.Nevertheless, for complex and diffuse intrahepatic vascular fistulae after failed hepatic artery embolization, liver transplantation should be strongly considered as the definitive treatment of choice.

Interentional therapy in apatient with congenital hepatic arteriovenous fistula

Interentional therapy in apatient with congenital hepatic arteriovenous fistula

Anterior Circulation Steal Syndrome

Introduction: Arteriovenous fistula (AVF) can be congenital or acquired. Congenital AVF are less common while acquired fistula are most frequently the result of penetrating trauma or iatrogenic action.Acquired common carotid jugular fistulas are uncommon in the head and neck region, accounting only 4 to 7% of all the traumatic AVFs encountered throughout the body that is not usually detected during the acute injury phase.Objective:For the first time in our center we diagnose and treat a carotid jugular vein fistula due to neck stab wound.Case Description:A 48 years old man with neck stab wound and strangulation was treated as an outpatient in a clinic with suturing the wound. he was stable and discharged without apparent neurologic deficit, after two days he was referred to our center due to left hemiparesis .in our assessment, Brain imaging showed right side hemodynamic infarct, in carotid duplex the flow was bidirectional and low RI, in angiography there was fistula from Right ICA to jugular vein, in left ICA angiography there was reversible flow from Right distal ICA to the fistula. After two times of brachychardia and asystolic cycle the patient was intubated and CPR was done. Cardiac arrest maybe because of cardiac problems dueto carotid jugular fistula.Approach:Due to carotid injury and high flow fistula, the Right ICA jugular fistula was obliterated by Balloon and ICA was also sacrificed. in left ICA Angiography the flow to Right ICA was stopped and MCA and ACA got flow from left side .the patient was stable and after few days he could be extubated and he was discharged with stable condition.Discussion:Carotid jugular fistula is a rare complication of neck trauma, because its symptoms appear late, with neurologic deficit many times neurologist was suspect to dissection and maybe MRA and CTA report Carotid occlusion but Duplex is an efficient device to differentiated between these two disease. in dissection there is prestenotic pattern and we can see the Flap flow in pseudolumen but in Carotid jugular fistula there is bidirectional and low resistance flow in proximal ICA. Meanwhile jugular vein have pulsatile flow due to direct carotid arterial flow.we presented a case of carotid-jugular fistula following cervical trauma.we are implicating on the role of carotid duplex for evaluation of cervical trauma. Duplex could efficiently differentiate between the two major complication of trauma that is cervical arteries dissection and carotid-jugular fistula.

Arteriovenous fistula between descending aorta: and left inferior pulmonary vein

Congenital systemic arteriovenous fistula arising from aorta and draining through the pulmonary vein to left atrium without lung sequestration is a rare vascular malformation [1,2]. On physical examination there is usually a continuous or systolic murmur. Clinical presentation depends upon the size and place of the vascular malformation [3]. If there is a suspicion of arteriovenous fistula on physical examination and echocardiography, multislice computed tomography angiography (CTA) can be helpful in confirming diagnosis and anatomic model, and choosing appropriate treatment modality [3,4]. We describe a rare case with arteriovenous fistula between thoracic aorta and left inferior pulmonary vein occluded with Amplatzer vascular plugs. A 20 month old girl with failure to thrive and cardiac murmur was referred by a pediatrician with suspected congenital heart diseases for an echocardiography. Her weight and height were 9 kg (<3% percentile) and 78 cm (10-25% percentile). Physical examination confirmed the presence of Grade III/VI systolic murmur heard on apical region and radiated to the mid scapular region posteriorly. There were a hyper dynamic pulse at the rate of 110/ min, forceful left ventricular apex impulse and mild hepatomegaly. There was no cyanosis or clubbing. Chest radiography showed mild cardiomegaly (cardio thoracic ratio 0.54) with increased pulmonary vascular markings especially in the lower left pulmonary region. The patient has mild congestive heart failure clinically. Echocardiography revealed left atrial and ventricular enlargement, moderately mitral valve regurgitation and increased blood flow into left atrium from enlarged left inferior pulmonary vein. An abnormal vessel that demonstrated a communication with the left inferior pulmonary vein was noted nearly to the left atrium. Diagnosis of the patient may be arteriovenous malformation/fistula but was not clear. Hence multislice CTA was done which revealed an abnormal communication, arteriovenous fistula, originating from thoracic aorta and draining into left inferior pulmonary vein (FIGURE 1 & VIDEO 1). The fistula drained through the left inferior pulmonary vein to the left atrium leading to left-to-left shunt. Lung had normal bronchial connection and pulmonary vasculature. Thoracic aortogram revealed an arteriovenous fistula originating from thoracic aorta and draining to left inferior pulmonary vein, and finally into left atrium (VIDEO 2). That was closed with embolization of Amplatzer vascular plugs. Post procedure Mustafa Kosecik