Diagnosis Of Vascular Malformations Research Articles

Pediatric orbital lesions: non-neoplastic extraocular soft-tissue lesions.

Orbital pathologies can be broadly classified as ocular, extraocular soft-tissue (non-neoplastic and neoplastic), osseous, and traumatic. In this paper, we discuss the key imaging features and differential diagnoses of congenital and developmental lesions (dermoid cyst, dermolipoma), infective and inflammatory pathologies (pre-septal cellulitis, orbital cellulitis, optic neuritis, chalazion, thyroid ophthalmopathy, orbital pseudotumor), and non-neoplastic vascular anomalies (venous malformation, lymphatic malformation, carotid-cavernous fistula), emphasizing the key role of CT and MRI in the imaging work-up. In addition, we highlight the adjunctive role of ocular ultrasound in the diagnosis of dermoid cyst and chalazion, and discuss the primary role of ultrasound in the diagnosis of vascular malformations.

Magnetic resonance - guided treatment of low-flow vascular malformations and the technologies to potentiate adoption.

Vascular malformations are congenital, non-neoplastic lesions that arise secondary to defects in angiogenesis. Vascular malformations are divided into high-flow (arteriovenous malformation) and low-flow (venous malformations and lymphatic malformations). Magnetic resonance imaging (MRI) is the standard for pre-and post-intervention assessments, while ultrasound (US), X-ray fluoroscopy and computed tomography (CT) are used for intra-procedural guidance. Sclerotherapy, an image-guided therapy that involves the injection of a sclerosant directly into the malformation, is typically the first-line therapy for treating low-flow vascular malformations. Sclerotherapy induces endothelial damage and necrosis/fibrosis with eventual involution of the malformation. Image-guided thermal therapies involve freezing or heating target tissue to induce cell death and necrosis. MRI is an alternative for intra-procedural guidance and monitoring during the treatment of vascular malformations. MR can provide dynamic, multiplanar imaging that delineates surrounding critical structures such as nerves and vasculature. Multiple studies have demonstrated that MR-guided treatment of vascular malformations is safe and effective. This review will detail (1) the use of MR for the classification and diagnosis of vascular malformations, (2) the current literature surrounding MR-guided treatment of vascular malformations, (3) a series of cases of MR-guided sclerotherapy and thermal ablation for the treatment of vascular malformations, and (4) a discussion of technologies that may potentiate interventional MRI adoption including high intensity focused ultrasound and guided laser ablation.

Estimate of the Prevalence of Vascular Malformations

Objectives: To estimate the prevalence of vascular malformations using retrospective data collected from 1999 to 2020 in a specialty vascular anomalies service. Methods: The vascular anomalies service associated with the Royal Children’s Hospital provides a reference service to both adults and children, covering the entire state of Victoria, Australia, which has a population of 6.7 million and around 70,000 births per year. A database of patients was interrogated to identify those treated by the service over the study period with a diagnosis of vascular malformation, excluding capillary malformations. A total of 1501 patients were identified, including 1233 with slow-flow malformations and 147 with arteriovenous malformations. Prevalence was calculated as the number of cases born per year who attended the service plus those estimated as yet to attend for assessment, divided by the average number of live births each year. This was calculated for a selected period comprising the years when the numbers were expected to be most stable. Results: The prevalence of slow-flow malformations is estimated to be 1 case per thousand livebirths. Approximate estimates of cases per 100,000 births for individual lesions are: venous malformation 45, lymphatic malformation 35, intramuscular slow-flow malformation 10, complex malformations (Klippel-Trenaunay and CLOVES) 4, glomuvenous malformation 5, and verrucous venous malformation 2. The prevalence of extracranial arteriovenous malformation is estimated to be around one case per 10,000 population. Conclusions: An updated estimate, more accurate than those previously published, of the prevalence of vascular malformations has been obtained.

Arteriovenous Malformation of the Face Involving the Right Temporal Region: a Case Report and Literature Review

Arteriovenous malformation (AVM) of the face is an uncommon condition. Clinical manifestations typically include local pain, pulsatile mass, headache, and less frequently, necrosis and hemorrhage. This study discusses and illustrates an unusual case of progressively progressive AVM of the right temporal region of the face in a 33-year-old woman. The diagnosis of vascular malformation was evoked on angio-CT. The treatment was surgical and consisted of complete removal of the tumor after vascular ligation. Histology confirmed the diagnosis.

Genes and phenotypes in vascular malformations

Vascular malformations (VMs) are caused by localized defects of vascular development. Most VMs are due to sporadic, postzygotic mutations, while some are the result of autosomal dominant germline mutations. Genotype-phenotype correlation is influenced by many factors. Individual genes can induce different phenotypes (pleiotropy), and similar phenotypes can be due to different genes/mutations (redundancy). The phenotypic spectrum of somatic mutations is wide, and depends on variant allele frequency, timing during embryogenesis, cell type(s) involved and type of mutation. The phenotype of germline mutations is determined by penetrance and expressivity, and is influenced by epigenetic factors (DNA methylation, histone modification) or 'second-hit' somatic mutations. Except for disorders with pathognomonic phenotypes such as Proteus syndrome or a characteristic constellation of symptoms such as CLOVES [congenital lipomatous (fatty) overgrowth, vascular malformations, epidermal naevi and scoliosis/skeletal/spinal anomalies] or PIK3CA-related overgrowth spectrum syndrome, differential diagnosis of VM is therefore difficult. It will be greatly facilitated with increasing analytic sensitivity of sequencing techniques such as next-generation sequencing. High-sensitivity molecular techniques are a prerequisite for targeted pharmacotherapy, i.e. selective therapeutic inhibition of activating mutations underlying VM, which has shown promising results in preliminary studies.

Vascular malformations: classification, diagnosis and treatment.

Vascular malformations are congenital lesions with complex clinical presentations and management. Their classification and treatment options have considerably changed throughout the years, with conflicting evidence in the literature. In this article, we aim to review the classification, diagnosis and treatment of the main vascular malformations. A thorough non-systematic review of the literature was conducted using PubMed/Medline. Seventy-nine articles were selected and included, according to their scientific relevance and relation with the subject. Vascular malformations occur due to errors during vasculogenesis. They are present at birth, though they may not be apparent until later in life. These malformations are most frequently found in the head and neck, but can occur in any part of the body. They can be divided according to the predominant vessel type into arteriovenous, venous, capillary and lymphatic. Combined malformations occur when more than one type of vessel is present. Clinical presentation is variable and depends on the type of malformation, as well as location, size and relation with other structures. Symptoms such as ischemia, swelling, pain, thrombosis, deformity and functional impairment can be caused by these lesions. The diagnosis of vascular malformations is based in both clinical presentation and complementary imaging techniques, with special emphasis on magnetic resonance imaging. Depending on the malformation and clinical presentation, treatment may be medical or interventional, by means of either interventional techniques or surgery. Vascular malformations are a complex group of pathologies, with different clinical presentations and treatment options, and therefore management by a multi-disciplinary team is essential. Their cure is often challenging and when not possible, treatment should aim at symptomatic control and improvement of patient's quality of life.

Update on classification and diagnosis of vascular malformations.

This review provides an update of the classification in the classification of vascular anomalies since April 2014 at the International Society for the Study of Vascular Anomalies meeting in Melbourne, Australia. The reader will become familiar with how to diagnose the major vascular malformations, including capillary, venous, arteriovenous, and lymphatic and combinations thereof. In addition, vascular malformation syndromes, including those with overgrowth, will be clarified. Vascular malformations are common. Capillary malformations are now better understood through an updated classification. Verrucous hemangioma is truly a venulocapillary malformation that extends into the subcutis. PIK3Ca-Related Overgrowth Syndromes encompass Klippel-Trenaunay, Congenital Lipomatous Asymmetric Overgrowth of the Trunk with Lymphatic, Capillary, Venous, and Combined-Type Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal and Spinal Anomalies, Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome (M-CAP), fibroadipose hyperplasia, and macrodactyly. Yet another syndrome should be highlighted: Capillary Malformation of the Lower Lip, Lymphatic Malformation of the Face and Neck, Asymmetry and Partial/Generalized Overgrowth. Knowledge of the genetic basis of vascular malformations will lead to future treatments.

Magnetic resonance imaging of head and neck vascular anomalies

Purpose: The aim of this study was to describe typical MRI features of the head and neck vascular anomalies and the possible diagnostic pitfalls. Patients and methods: Patients with extracranial vascular anomalies of the head and neck, who underwent MRI examinations between January 2013 and January 2016, were included in the study. Precontrast and postcontrast T1-WI,T2-WI, with and without fat saturation were acquired. When indicated, a noncontrast MR angiography was performed. Dynamic postcontrast MRI techniques were available in six children. Results: The study included 33 patients (age ranged from 10 to 20 years, mean: 49 months). MRI confirmed the clinical diagnosis in equivocal cases, and provided proper determination of lesion extension and/or associated intracranial anomalies. The study included 10 cases of vascular tumors (hemangioma), whereas the remaining 23 cases had the diagnosis of vascular malformations (one patient with arteriovenous malformation, one with capillary malformation, seven with venous, nine with macrocystic lymphatic, and five with microcystic lymphatic malformations). Conclusion: Vascular anomalies in the head and neck are mostly diagnosed on clinical basis; however, when the history is uncertain or the diagnosis is equivocal, a well-tailored MR examination can be a single valuable diagnostic tool providing structural and functional information. Keywords: children, head and neck, hemangioma, lymphatic malformation, magnetic resonance angiography, venous malformation

P-07: Vascular Anomalies Associated With Esophageal Atresia and Tracheoesophageal Fistula: Incidence, Clinical Presentation, Diagnosis and Consequences

Vascular anomalies may be associated with esophageal atresia (EA) and tracheoesophageal fistula (TEF). Our main objective is to report their incidence in a cohort of EA/TEF patients while describing clinical presentation, diagnosis and consequences. The secondary objective is to determine the diagnostic value of esophagram in the diagnosis of aberrant right subclavian artery (ARSA). All patients born with EA/TEF from 2005 to 2013 were studied. Preoperative echocardiography reports, surgical description of primary esophageal repair and esophagram were retrospectively reviewed. Age at diagnosis, discovery mode, clinical presentation and need for surgical correction of the vascular malformation were noted. 76 of 86 children with EA/TEF were included. Fourteen children (18%) had a vascular malformation. The incidence of right aortic arch (RAA) and ARSA was 6% (5/76) and 12% (9/76) respectively. Respiratory and/or digestive symptoms occurred in 9 of them. Long gap EA and severe cardiac malformations requiring surgery were both significantly associated with vascular anomalies (p < 0.05). We reviewed 254 esophagrams; 40% were inconclusive for the detection of vascular anomalies. The diagnosis of vascular malformation was missed in four patients with a long gap EA. The sensitivity of esophagram for the diagnosis of ARSA was 66%, the specificity was 98%, the negative predictive value 95%, and the positive predictive value 85%. ARSA and RAA have an incidence respectively of 12% and 6% in EA/TEF patients. Echocardiography and esophagram are effective but their sensitivity is not optimal for the diagnosis of ARSA. A CT-angioscan is recommended when esophageal stenting is indicated.

Multimodality imaging of vascular anomalies

Vascular malformations and hemangiomas are common in children but remain a source of confusion during diagnosis, in part because of the lack of a uniform terminology. With the existing treatments for hemangiomas and vascular malformations, it is important to make the correct diagnosis initially to prevent adverse physical and emotional sequelae in not only the child but also the family. The diagnosis of vascular malformations is made primarily by the clinician and based on the physical exam. Imaging is carried out using predominantly ultrasound (US) and magnetic resonance imaging (MRI), which are complementary modalities. In most cases of vascular anomalies, US is the first line of imaging as it is readily available, less expensive, lacks ionizing radiation and does not require sedation. MRI is also of great help for further characterizing the lesions. Conventional arteriography is reserved for cases that require therapeutic intervention, more commonly for arteriovenous malformations. Radiographs usually play no role in diagnosing vascular anomalies in children. In this article, the author describes the terminology and types of hemangiomas and vascular malformations and their clinical, histological features, as well as the imaging approach and appearance.

Abstract TP299: Lone Intraventricular Hemorrhage Frequently Harbors Vascular Malformations And Has Better Clinical Outcomes Than When Associated With Small Parenchymal Component

Background: Primary intraventricular hemorrhage (PIVH) is an uncommon neurological event which can cause significant morbidity. The current literature comprises of small case series that include two types of PIVH: 1) blood restricted to the ventricular system only 2) predominant IVH plus a small parenchymal component. Hypothesis: We hypothesized that these two types represent different clinical entities and have key differences in their clinical, diagnostic and prognostic profiles. Methods: We performed a retrospective chart review over last 3 years from our center’s database. Neuroradiology reports of initial CT scans from all cases of intracranial hemorrhage (ICH) were reviewed to capture patients. Then CT images were reviewed and classified into pure IVH or IVH with small intraparenchymal hemorrhage within 15mm of the ventricular wall (IVH/sICH). Exclusion criteria included presence of subarachnoid hemorrhage and head trauma. Results: Out of 846 ICH patients, 25 patients (3%) were identified as pure IVH and 26 (3.1%) as IVH/sICH. Median ages were 72 and 61 years, and females were 17 (68%) and 14 (54%) without significant difference. Pure IVH was found to have significantly higher rate of cerebral angiogram performance (60% vs 26.9%, p=0.02), more frequent etiology of arteriovenous malformations (AVM) or arteriovenous fistula (32% vs 3.8%, p=0.01), better early clinical outcomes measured by median modified Rankin score at discharge (4 vs 5, p=0.05) and lower in-hospital mortality (0% vs 23.1%, p=0.02). IVH/sICH group was found to have significantly higher rate of focal findings on presentation (p=0.02) and past history of HTN (p=0.02). No significant differences were found between the groups in clinical presentation, admission blood pressure, pre-admission antiplatelet and anticoagulation therapy, severity of IVH on CT, CT angiogram findings, and in-hospital complication and treatment. Conclusion: Clinical presentation was not different between pure IVH and IVH with small parenchymal component. Pure IVH patients received a more aggressive diagnostic approach, had more frequent diagnosis of vascular malformation, and had better early clinical outcomes.

Management of vascular malformations of the parotid area

To describe our experience in the management of vascular malformations of the parotid area. This was a retrospective study. Among 614 parotidectomy performed between 1998 and 2008 at our institution, 10 cases (1.6%) of vascular malformations have been identified. Clinical features and management of these patients were analyzed. Clinical presentation was usually related to that of a benign, slow-growing and asymptomatic tumor. There was a marked female predominance (90%). In any case, the diagnosis of vascular malformation could be obtained with certainty preoperatively. Surgical excision was performed most often referred to diagnosis. Sixty percent of vascular malformations were located in the superficial lobe of the parotid gland. On the histological we found a classic look with benign vascular proliferation of endothelial cells in the walls. The vessel lumen was either the head of a congestion or thrombosis or calcification (phleboliths). Vascular malformations of the parotid gland, rare disease, are mainly venous. The terminology is based on clinical data, scalable, histological and hemodynamic as classified by the International Society of Study of Vascular Anomaly (ISSVA). Despite advances in imaging including MRI they remain difficult to diagnose. The treatment of reference is surgical excision.

The Misguided Research on Klippel-Trenaunay Syndrome

The Misguided Research on Klippel-Trenaunay Syndrome

Zur Differenzialdiagnostik vaskulärer Malformationen im oberen Aerodigestivtrakt

The differential diagnosis of vascular malformations of the upper aero-digestive tract may represent a diagnostic challenge and become a hindrance for therapy planning. The terminus ” EXTRACRANIAL VASCULAR ANOMALIES” of the Head and Neck integrates hemangiomas and vascular malformations. The differntial diagnosis contains benign and malign neoplasms, naevi, pigmentations and purpura.

Application of color Doppler ultrasound in the diagnosis and classification of vascular malformations of the maxillofacial region

Objective To explore the diagnosis classification of color Doppler ultrasound(CDU)in the vascular malformations of the maxillofaacial region.Methods The feathes of CDU of 110 cases with vascular malformations of the maxilloface were studied.According to their high resolution gray-scale ultrasound and hemodynamic characteristics,110 cases with vascular malformation were divided into highlow lesion and low-flow lesion.All high-low vascular malformation were performed digital subtraction angiography(DSA) examination.Results Among the 110 cases,67 cases showed net-like mixed echoic area with irregular shape,and there were many calcifications in lesions and CDU showed blood signal rare or relatively abundant,and peak arterial systolic flow velocity(PSV)were(28.53±8.1)cm/s,and were diagnosed as low-flow vascular malformation.Forty-three cases showed 72 supplying arteries thickening and extra abundant blood signal and PSV were averagely(144.53±38.9)cm/s,and showed low resistant artery frequency spectrum and ultrasonic diagnosis were high-flow vascular malformation.DSA examination or postoperative pathology proved that high-flow and low-flow ultrasonic diagnosis accuracy rate were 100% and 97% respectively.Conclusions CDU can make correct diagnosis,classification and differential diagnosis of vascular malformations and has guiding significance in selecting appropriate clinical treatment options. Key words: Ultrasonography; Doppler; color; Vascular abnormalities; Maxillofacial abnormalities

Proteus’ syndrome as a differential diagnosis of vascular malformations

Proteus’ syndrome as a differential diagnosis of vascular malformations

Incidence of vascular malformations in spontaneous intra-cerebral haemorrhage in children

To assess the incidence of vascular malformations in children presenting with non-traumatic intra-cerebral haemorrhage and outline the need for radiological investigations. Between 1993 and 2002, 26 children presented with spontaneous intra-cerebral haemorrhage at a mean age of 26 months (range 1-192 months). Twenty-two children had, as first treatment, surgical removal of the haematoma and any malformation found. One patient with no evidence of vascular malformation had conservative treatment, two had embolisation and one had stereotactic radiosurgery of arteriovenous malformations (AVMs). The diagnosis of vascular malformation was confirmed histologically and/or radiologically in 16 (61%) patients. Of these 16 patients, 7 were AVMs, 1 thrombosed middle cerebral artery (MCA) aneurysm, 1 cavernous angioma, 6 aggregates of abnormal vessels, 1 vein of Galen aneurysm. Pre-operatively, 12 patients had magnetic resonance imaging (MRI)/magnetic resonance angiography (MRA) and 7 were positive for vascular malformation (1 false positive) with no false negatives. Digital subtraction angiography (DSA) was performed pre-operatively in 7 patients, 4 were positive with no false negatives. There were no re-bleeds at the follow-up period. Five (19%) patients died from the haemorrhage, 7 (27%) had severe neurological deficit and 14 (54%) had no neurological deficit. Residual malformation after surgery requiring additional treatment was found in 3 (16%) patients. All patients with confirmed malformations were followed-up with DSA. MRI/MRA has high sensitivity and specificity in identifying vascular malformations in children presenting acutely with spontaneous intra-cerebral haemorrhage. This may prove useful when pre-operative DSA is not promptly available. After acute clot evacuation, there is high incidence of residual malformation and such patients should be followed-up with DSA.

Embolization of Vascular Malformations in Head and Neck Regions

The purpose of this study is to determine the effectiveness of embolization of each type of vascular malformation. Thirty three patients with a diagnosis of vascular malformations in head and neck regions who were treated by embolization at Siriraj Hospital, Thailand, between 1997-2002 were reviewed retrospectively. There were 19 arteriovenous malformations (AVMs), two arteriolar-capillary types, ten venous malformations, one veno-lymphatic malformation and one mixed capillary and venous types. The goal of treatment is to restore function and to prevent bleeding complications with particularly good cosmetic results. The technique and therapeutic agents depended on the types and flow characteristics of each malformation. Transarterial embolization with N-butyl cyanoacrylate were used in AVMs, unless no arterial route approach, then direct puncture was tried. This was carried out in five patients with AVMs. Polyvinyl alcohol was used in two capillary lesions. All venous malformations were treated by absolute alcohol injection, percutaneously. All had good outcome without serious complications. Two patients had further plastic surgery, one was AVM of eyelid and the other was facial venolymphatic malformation. Embolization is considered to be the primary treatment by eradication of those abnormal vessels directly at the target, whereas delayed plastic surgery may be needed later.

Magnetic resonance imaging in vascular malformations: studies with and without gadolinium-DTPA.

MRI and gadolinium-DTPA enhanced dynamic MRI increase the information available for and from diagnosis of vascular malformations since it appears possible to obtain nearly specific information about these lesions. Further investigations are needed with fast imaging, flow imaging, and MR substraction angiography to obtain information similar to that obtained by angiography and CT. The value of X-ray CT for the diagnosis of vascular malformations seems to be inferior to MRI since MRI can delineate vessels and flow better and also allows direct multiplanar imaging.