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Vascular anomalies (VAs) have phenotypic variability within the same entity, overlapping clinical features between different conditions, allelic and locus heterogeneity and the same disorder can be inherited in different ways. Most VAs are sporadic (paradominant inheritance or de novo somatic or germline mutations), but hereditary forms (autosomal dominant or recessive) have been described. This Utility Gene Test was developed on the basis of an analysis of the literature and existing diagnostic protocols. The genetic test is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia characterized by telangiectases and arteriovenous malformations. These lesions cause bleeding, particularly in the nose, gastrointestinal tract and brain. HHT has incomplete penetrance, variable expressivity and genetic heterogeneity. De novo mutations associated with the onset of sporadic HHT have been reported. This Utility Gene Test was prepared on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

Objectives: Arteriovenous malformations (AVM) are the most troublesome vascular malformations to deal with. They tend to behave like low-grade malignancies with infiltrative and disruptive growth. Crucially, the clinical course of an AVM that has been improperly managed is usually characterized by a recurrence that is much more aggressive than the original disease. As in oncology, a comprehensive staging system is highly desirable and is to date lacking in the literature. The authors present a new comprehensive staging system., Methods: A multicentric multidisciplinary team of experts in the field of vascular anomalies has created this new staging system. The SECg staging system defines the local extension of the disease (S1-S4), the vascular architecture of the malformation (E1, E2, E3), the severity of the symptoms (C0-C3) and the presence or absence of growth of the AVM (g+, g-)., Results: This staging system allows to address all the aspects of AVMs and, more importantly, to help building an appropriate, individualized treatment plan for affected patients. After being staged an AVM can be defined as (a) healable, (b) healable with predicted sequelae, or (c) unhealable. Then, the SECg system allows to outline (a) absolute indications, (b) relative indications, and (c) no indications for treatment. The purpose of the treatment (radical, palliative) is furthermore taken into consideration., Conclusions: This multicentric, the SECg staging system that this multidisciplinary group of Authors has defined allows for a comprehensive staging of the disease which in turn has enabled to outline an algorithm to properly manage AVMs.

Syndromes with lymphatic malformations show phenotypic variability within the same entity, clinical features that overlap between different conditions and allelic as well as locus heterogeneity. The aim of this review is to provide a comprehensive clinical genetic description of lymphatic malformations and the techniques used for their diagnosis, and to propose a flowchart for genetic testing. Literature and database searches were performed to find conditions characterised by lymphatic malformations or the predisposition to lymphedema after surgery, to identify the associated genes and to find the guidelines and genetic tests currently used for the molecular diagnosis of these disorders. This search allowed us to identify several syndromes with lymphatic malformations that are characterised by a great heterogeneity of phenotypes, alleles and loci , and a high frequency of sporadic cases, which may be associated with somatic mutations. For these disorders, we found many diagnostic tests, an absence of harmonic guidelines for molecular diagnosis and well-established clinical guidelines. Targeted sequencing is the preferred method for the molecular diagnosis of lymphatic malformations. These techniques are easy to implement and have a good diagnostic success rates. In addition, they are relatively inexpensive and permit parallel analysis of all known disease-associated genes. The targeted sequencing approach has improved the diagnostic process, giving patients access to better treatment and, potentially, to therapy personalised to their genetic profiles. These new techniques will also facilitate the prenatal and early postnatal diagnosis of congenital lymphatic conditions and the possibility of early intervention., Competing Interests: Competing interests: None declared., (© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)

Objective: An accurate "molecular" diagnosis and classification of similar but distinct diseases is sometime challenging but often crucial for the definition of the appropriate patient medical management and treatment as well as for genetic counseling and risk assessment in families. The advent of next-generation sequencing (NGS), which analysed all known disease-associated genes in parallel in a cost- and time-effective manner, eased this process of disease definition and also for vascular anomalies that are a heterogeneous group of vascular tumors and congenital circulatory malformations and often characterized by overlapping phenotypes., Methods: We designed a NGS-based screening of the 25 currently most prevalent genes identified in patients with vascular anomalies with Mendelian inheritance and applied this panel to study the DNA of 150 patients affected with vascular anomalies for autosomal recessive and autosomal dominant variants and to analyse the paired blood and DNA from intralesional biopsy specimens in 17 patients for somatic unbalance. Results were confirmed with Sanger sequencing., Results: We identified 14 pathogenic variants in 13 of 150 patients. Eight variants were previously reported as a disease-causing variant, and six were new. In 55 additional probands we detected 75 variants with unknown significance. Moreover, a previously reported somatic variant was detected in five of 17 available tissue biopsy specimens., Conclusions: Our results show that many genes can cause a wide variety of syndromic and nonsyndromic disorders, confirming that genetic testing by NGS is the approach of choice to diagnose heritable vascular anomalies, especially, but not only, when an intralesional biopsy specimen is available. The identification of the causative genes and the possibility of tracing somatic variants in tissues provide important information about etiology, patient clinical management, and treatment, and it could highlight otherwise unsuspected clinical situations., (Copyright © 2017 Society for Vascular Surgery. Published by Elsevier Inc. All rights reserved.)

Purpose: The aim of this study was to evaluate complications in patients with head and neck venous malformations (VMs) treated with foam sclerotherapy using sodium tetradecyl sulfate (STS)., Methods: The authors retrospectively evaluated the complications, pain. and degree of satisfaction in 69 consecutive patients affected by cervicofacial VM managed with STS using the Tessari method in a single institution., Results: The average number of procedures for each patient was 2.1. The most frequent complication was blistering. We observed 1 patient of temporary weakness of a facial nerve branch, 1 paradoxical embolism, and 1 orbital compartment syndrome.The average pain score was 0 (no pain at all) (51.5%). There was no statistically significant correlation between patient satisfaction and the presence of complications or the degree of pain., Conclusions: Sclerotherapy with STS is an effective treatment that yields to very high patient satisfaction. This procedure has an overall low complication rate and is usually effective within a few sessions. However, severe complications may occur; these must be pointed out in the informed consent and the surgeon must be aware of and ready to quickly treat them to prevent long-term sequelae.

Venous malformations (VMs) are the most common vascular developmental anomalies (birth defects) . These defects are caused by developmental arrest of the venous system during various stages of embryogenesis. VMs remain a difficult diagnostic and therapeutic challenge due to the wide range of clinical presentations, unpredictable clinical course, erratic response to the treatment with high recurrence/ persistence rates, high morbidity following non-specific conventional treatment, and confusing terminology. The Consensus Panel reviewed the recent scientific literature up to the year 2013 to update a previous IUP Consensus (2009) on the same subject. ISSVA Classification with special merits for the differentiation between the congenital vascular malformation (CVM) and vascular tumors was reinforced with an additional review on syndrome-based classification. A "modified" Hamburg classification was adopted to emphasize the importance of extratruncular vs. truncular sub-types of VMs. This incorporated the embryological ongm, morphological differences, unique characteristics, prognosis and recurrence rates of VMs based on this embryological classification. The definition and classification of VMs were strengthened with the addition of angiographic data that determines the hemodynamic characteristics, the anatomical pattern of draining veins and hence the risk of complication following sclerotherapy. The hemolymphatic malformations, a combined condition incorporating LMs and other CVMs, were illustrated as a separate topic to differentiate from isolated VMs and to rectify the existing confusion with name-based eponyms such as Klippei-Trenaunay syndrome. Contemporary concepts on VMs were updated with new data including genetic findings linked to the etiology of CVMs and chronic cerebrospinal venous insufficiency. Besides, newly established information on coagulopathy including the role of D-Dimer was thoroughly reviewed to provide guidelines on investigations and anticoagulation therapy in the management of VMs. Congenital vascular bone syndrome resulting in angio-osteo-hyper/hypotrophy and (lateral) marginal vein was separately reviewed. Background data on arterio-venous malformations was included to differentiate this anomaly from syndromebased VMs. For the treatment, a new section on laser therapy and also a practical guideline for follow up assessment were added to strengthen the management principle of the multidisciplinary approach. All other therapeutic modalities were thoroughly updated to accommodate a changing concept through the years.

Background: Surgical removal of large cervicofacial venous malformations might be hampered by massive intraoperative bleeding. Moreover, these lesions often insinuate within normal surrounding tissue, making complete resection impossible without causing significant morbidity., Methods: Two patients affected by facial venous malformations nonresponsive to sclerotherapy underwent surgery. Bleeding and critical branching of the facial nerve within the lesion prevented the surgeons from proceeding with the removal. The unresectable malformation was decompressed by means of a number of nonresorbable stitches from the surface of the lesion to the periosteum, tailoring a permanent pressure dressing., Results: Outcomes at 12-month follow-up were stable, with good cosmetic results and satisfaction reported by both patients. No long-term side effects related to the procedure were observed., Conclusion: Decompression of large venous malformations by means of a strangling technique might represent a safe and effective procedure for those cases where a removal cannot be accomplished., (© 2014 Wiley Periodicals, Inc.)

Venous malformations (VMs) are the most common vascular developmental anomalies (birth defects). These defects are caused by developmental arrest of the venous system during various stages of embryogenesis. VMs remain a difficult diagnostic and therapeutic challenge due to the wide range of clinical presentations, unpredictable clinical course, erratic response to the treatment with high recurrence/persistence rates, high morbidity following nonspecific conventional treatment, and confusing terminology. The Consensus Panel reviewed the recent scientific literature up to the year 2013 to update a previous IUP Consensus (2009) on the same subject. ISSVA Classification with special merits for the differentiation between the congenital vascular malformation (CVM) and vascular tumors was reinforced with an additional review on syndrome-based classification. A "modified" Hamburg classification was adopted to emphasize the importance of extratruncular vs. truncular subtypes of VMs. This incorporated the embryological origin, morphological differences, unique characteristics, prognosis and recurrence rates of VMs based on this embryological classification. The definition and classification of VMs were strengthened with the addition of angiographic data that determines the hemodynamic characteristics, the anatomical pattern of draining veins and hence the risk of complication following sclerotherapy. The hemolymphatic malformations, a combined condition incorporating LMs and other CVMs, were illustratedas a separate topic to differentiate from isolated VMs and to rectify the existing confusion with namebased eponyms such as Klippel-Trenaunay syndrome. Contemporary concepts on VMs were updated with new data including genetic findings linked to the etiology of CVMs and chronic cerebrospinal venous insufficiency. Besides, newly established information on coagulopathy including the role of D-Dimer was thoroughly reviewed to provide guidelines on investigations and anticoagulation therapy in the management of VMs. Congenital vascular bone syndrome resulting in angio-osteo-hyper/hypotrophy and (lateral) marginal vein was separately reviewed. Background data on arterio-venous malformations was included to differentiate this anomaly from syndrome-based VMs. For the treatment, a new section on laser therapy and also a practical guideline for follow up assessment were added to strengthen the management principle of the multidisciplinary approach. All other therapeutic modalities were thoroughly updated to accommodate a changing concept through the years.

Primary intraosseous arteriovenous malformations are rare. Many minimally invasive procedures can be considered preoperative steps and/or definitive treatment. The case reported regards a young woman with a voluminous arteriovenous extratroncular infiltrating malformation of the humerus. She underwent several treatments, but none of them was completely occlusive. The last treatment consisted of direct percutaneous puncture of the intraosseous alteration and injection of polymethylmethacrylate (PMMA), which is normally used in percutaneous vertebroplasty. We obtained complete occlusion of the humerus lytic lesion. To the best of our knowledge, this represents the first case of intraosseous AVM treated by percutaneous injection of PMMA.

Because of its extremely powerful sclerosing effect, in our experience, ethanol can be considered the most efficacious agent in the percutaneous treatment of peripheral venous malformations. To reduce the risk of ethanol reflux into the superficial veins or the central venous system, we developed a simple but very efficacious technique. After the time necessary to obtain the sclerosing effect, we drain the ethanol with the same needle used to inject. The purpose of this article is to describe the technique of sclerotherapy with 96% ethanol for peripheral venous malformations and its effectiveness in reducing the serious complications of alcohol.

Aim: The clinical assessment of arteriovenous malformations (AVMs), including treatment response (surgical and/or embolosclerotherapy), has traditionally been done by arteriography, mainly by looking for residual lesions. However, arteriography is disadvantaged as it is an expensive invasive test with high morbidity and provides only limited anatomical information at the qualitative level. Here, transarterial lung perfusion scintigraphy (TLPS), which was developed as a less invasive test for the physiologic assessment of the arteriovenous shunting status of AVM lesions located in the lower extremities, was evaluated for its ability to replace traditional arteriography as a means of following-up treatment results., Methods: The shunting volume of radioisotope-tagged macro-aggregated albumin injected into the arterial system of the affected limb was counted by TLPS before and after AVM treatment, as a quantitative measure of treatment response. The findings obtained were compared with a matching duplex scan, whole body blood pool scintigraphy (WBBPS) findings, and arteriographic findings., Results: Twenty-one TLPS tests were performed as follow-up assessments on 15 patients with AVM in the extremity, who underwent multistaged embolo/sclerotherapy alone or combined with surgical therapy. These 21 TLPS findings, including 6 interim TLPS results (average 16 months follow-up), provided quantitative measurements of lesion reductions as percentile ratios versus the baseline pretreatment values. Matching posttreatment duplex scan (14 out of 17 sets) and WBBPS (12 out of 15 sets) findings confirmed the posttreatment TLPS assessment., Results: In addition, all 12 available arteriographic studies confirmed the matching TLPS findings., Conclusions: TLPS can provide accurate information on shunting volume reduction, occurring in response to various treatments during or after the completion of therapy. TLPS, therefore, may be able to replace arteriography, and provide a reliable means of follow-up assessment for the determination of the future treatment strategy.

Aim: Various non- to less-invasive tests have been recently introduced in the management of congenital vascular malformations (CVM) and have become essential for the initial diagnostic work-up, largely replacing the traditional role of invasive tests. Whole body blood pool scintigraphy (WBBPS) was initially adopted as a supplementary test to reinforce other well-established essential diagnostic tests, and has been used extensively together in our Clinic, for years. We have evaluated WBBPS retrospectively for the diagnosis of venous malformation (VM) and arterio-venous malformation (AVM), and also for a further possible role for the interim assessment of treatment results during multistaged embolo/sclerotherapy., Methods: Of 123 VMs and 48 AVMs selected for various treatments, 80 patients (66 VMs and 14 AVMs) were reviewed. The reliability of WBBPS as an initial diagnostic tool for VMs and AVM was assessed first by comparing its findings with matching MRI and/or duplex scan findings. These 80 patients underwent embolo/sclerotherapy with absolute ethanol mostly for VM, and N-butyl cyanoacrylate for AVM. A total of 251 sessions were performed either as a primary treatment independently or in conjunction with surgical treatment preoperatively. Thirty-six patients were available in terms of the subsequent review of the treatment results, to compare their 72 post-therapy WBBPS findings with matching duplex scan and MRI findings. The WBBPS assessment of treatment response was based on the percentage reduction of abnormal blood pooling over the region of interest (ROI) from baseline (initial) value. Treatment response was also qualitatively and semi-quantitatively assessed according to the degree of abnormal blood pool reduction., Results: Of the 80 CVM (66 VM and 14 AVM) patients, 61 of 66 WBBPS findings of VM on initial diagnosis were confirmed as true-positive. Twelve of 14 AVMs were also confirmed as WBBPS true-positive findings. The sensitivity of WBBPS for the initial diagnosis was 93.8% (61/65) for VM and 92.3% (12/13) for AVM. The positive predictive value was 98.4% (61/62) for VM and 92.3% (12/13) for AVM. Of 72 post-therapy WBBPS performed for follow-up assessment of the results of treatment on 36 patients, 52 WBBPS showed positive findings qualitatively and/or quantitatively, the remaining 20 were negative. Fifty-one of the 52 WBBPS-positive findings were true-positive and 18 of the 20 were true-negative. Hence, WBBPS for follow-up assessment showed a sensitivity of 96% (51/53); a specificity of 95% (18/19); a positive predictive value of 98% (51/52); and a negative predictive value of 90% (18/20)., Conclusions: Contemporary management of CVMs can be improved by using WBBPS, which is a less expensive, simple, and safe non-invasive test, especially for venous and arterio-venous malformations. WBBPS is a cost-effective and practical test with dependable accuracy for the assessment of treatment results, especially for interim measurements during multistage embolo/sclerotherapy.

Background: Management of arteriovenous malformations (AVMs) remains challenging because of their unpredictable behavior and high recurrence rate. A multidisciplinary approach based on a new classification scheme and improved diagnostic techniques may improve their management. The purpose of this study was to review our experience with combined embolotherapy, sclerotherapy (embolo/sclerotherapy), and surgical procedures to manage AVMs., Methods: A total of 797 patients with congenital vascular malformations (January 1995 through December 2001) was investigated with noninvasive studies. Once an AVM was diagnosed, all underwent angiographic confirmation as a roadmap for treatment. Embolo/sclerotherapy and surgical procedures were instituted by the multidisciplinary team with periodic follow-up per protocol. Seventy-six patients with AVMs were reviewed retrospectively to assess the diagnosis and management by a multidisciplinary approach., Results: Seventy-six (9.5% of all CVM) patients had AVMs, mostly infiltrating, extratruncular form (61/76). Embolo/sclerotherapy with various combinations of absolute ethanol, N-butyl cyanoacrylate (NBCA), contour particles, and coils were used in 48 patients. Sixteen patients with surgically accessible localized lesions completed preoperative embolism and sclerotherapy through 24 sessions, with subsequent surgical excision with minimal morbidity. Interim results were excellent, with no evidence of recurrence in all 16 patients with a mean follow-up of 24 months. Thirty-two patients with surgically inaccessible lesions (infiltrating) were treated with embolism and sclerotherapy alone. There were nine failures in a total of 171 sessions. Interim results with a mean of 19 months' follow-up of embolism and sclerotherapy alone were excellent in the majority (25/32) and good to fair among the rest (7/32). However, 31 complications, mostly minor (27/31), occurred in 30 sessions. Four major complications occurred, including facial nerve palsy, pulmonary embolism, deep vein thrombosis, and massive necrosis of an ear cartilage., Conclusions: Diagnosis and management of AVMs by a multidisciplinary approach that integrates surgical therapy with embolism and sclerotherapy appears to improve the results and management with limited morbidity and no recurrence during early follow-up.

Congenital vascular-bone syndrome is an alteration in limb growth caused by congenital vascular malformations in childhood. A precise study of the anatomic and hemodynamic nature of the underlying defect is necessary, not only for diagnosis, but also for therapy. The use of old eponyms for diagnosis, such as "Klippel-Trenaunay," "Parkes-Weber," and "Servelle-Martorell" should be abandoned because they are meaningless and misleading. An anatomic/pathological categorization, according to the simple "Hamburg classification," is more practical for clinical purposes. Seven different types of vascular defects, all associated with a-v fistulas, are related with limb overgrowth. Four different types of vascular malformations may produce limb shortening. Complete diagnostic study should allow classifying the malformation into one of the groups listed and illustrated above. Precise diagnosis is useful because interventional therapy can correct limb length discrepancy if performed before epiphyseal closure.

During the last 25 years 170 patients with ruptured aortic aneurysms were treated in our centre for vascular surgery with an overall mortality of 54%. We have subdivided these patients into three groups according to temporal factors: the 1st group includes 16 patients treated in the years 1966-1978; the 2nd group includes 93 patients treated from 1979 to 1987; the 3rd group includes patients from 1988 to 1990. In these years no selection of patients was made and everybody still alive was operated on. Starting from the second period, haemodynamical monitoring of the patients was performed with the adoption of the Swan-Ganz catheter in almost all cases. Mortality in the first period was 69%, in the second period 60% and in the third period 40%. There was no difference in the haemodynamical state in the three groups. The difference lies in the number of surgical interventions per year: 1.33 intervention per year in the first period; 11.625 interventions per year in the second period and 20 in the third. We conclude that an improvement in the survival rate of patients undergoing urgent aortic aneurysm repair is due to precise haemodynamical intraoperative monitoring and a well trained surgical team.

Congenital vascular arteriovenous malformations can be treated by surgery in the majority of cases. Contraindications for surgical correction are only slight cases and very few of the severe cases in which amputation is the only possibility of treatment. After illustrating guidelines for surgical strategy, tactics and techniques of operative treatment are discussed. Results obtained in 52 cases are demonstrated.