Venous Vascular Malformations Research Articles

4:10 PM Abstract No. 388 Ethylene vinyl alcohol copolymer (Onyx) for treatment of large venous vascular malformations: long-term results

To describe the long-term results and advantages of ethylene vinyl alcohol polymer for treatment of venous vascular malformations. Since 2005, we have used Ethylene vinyl alcohol copolymer (Onyx 18 & 34) in the treatment of 62 patients with large, low-flow venous vascular malformations. There were 34 females and 28 males with ages ranging from 7–59 years (mean 25 years). Fifty-one of the malformations involved the extremities and 11 involved the chest, abdominal wall or pelvis. All patients were evaluated with MRI/MRA pretreatment. Onyx was delivered by direct injection with ultrasound and fluoroscopic guidance under tourniquet control. In a few cases Onyx was also delivered via a transarterial micro catheter positioned in large feeding vessels. Sodium tetradecyl (3%) foam was used also in conjunction with Onyx in six patients where there were associated smaller foci of malformation. Histologic examination of tissues from patients whose embolized lesions were subsequently explanted was performed. Ethylene vinyl alcohol copolymer (Onyx) was found to be useful for occlusion of large venous channels in venous malformations. Unlike sclerosing agents, its visibility allowed direct observation of filling of the venous malformation during injection. When used alone, there was minimal post procedure discomfort. There were two complications: one extrusion of Onyx from a lesion on the sole of the foot, which healed without sequelae and one instance of embolization of a small Onyx fragment to the lung, also without sequelae. On H & E stains, the Onyx was noted to be distributed in the intraluminal spaces with associated mild foreign body type giant cell reaction. Permanency of the copolymer was demonstrated on long-term imaging follow-up. Ethylene vinyl alcohol copolymer (Onyx) is a safe, durable agent for treatment of venous vascular malformations. It is of particular value in malformations with large venous channels. Unlike standard sclerosing agents, Onyx behaves as a filler, and is not dependent upon generation of an inflammatory reaction for occlusion. Its opacity allows visualization of filled channels. It can be used alone or in conjunction with sclerosing agents.

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.

GNAQ Mutation in the Venous Vascular Malformation and Underlying Brain Tissue in Sturge-Weber Syndrome.

AbstractThe recent identification of the somatic GNAQ mutation (c.548G > A) provides insight into the pathogenesis of Sturge–Weber syndrome (SWS). Although the primary SWS brain pathology is the leptomeningeal angiomatosis (LMA), cerebral cortical and white matter abnormalities play a prominent role in the disease manifestations. In some cases, SWS brain involvement is present even without detectable LMA on magnetic resonance imaging (MRI). To expand our understanding of the etiology of SWS brain pathology, surgical SWS brain specimens from nine children (age: 0.8–7.5 years) were carefully separated into LMA and (non-LMA) brain tissue; the latter did not contain any vascular malformation. A custom Competitive Allele-Specific TaqMan PCR (castPCR) assay to detect the mutation in GNAQ was performed in these separated specimens. The mutation was present in all nine LMA and seven of the nine non-LMA brain tissues. LMA tissues were significantly enriched by the mutation, as compared with non-LMA brain (mean: 7.2 ± 2.1% and 1.2 ± 0.4%, respectively; p = 0.008). These results demonstrate that the somatic GNAQ mutation in SWS is not confined to the venous vascular malformation but can directly (although less severely) affect underlying brain parenchyma, not directly affected by LMA, and possibly contribute to SWS brain pathology. Future studies should identify the specific cell type(s) affected by the mutation in the SWS-affected brain parenchyma.

Syndromes hypertrophiques secondaires aux mutations de PIK3CA

This review presents an overview of a recently characterized spectrum of overgrowth syndrome: phosphoinositide-3 kinase (PI3K)-related overgrowth spectrum (PROS). This spectrum encompasses overgrowth syndromes associated with somatic mosaic activating PIK3CA mutations such as megalencephaly-capillary malformation (MCAP) syndrome, dysplatic megalencephaly (DMEG), congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies (CLOVES) syndrome, hemihyperplasia-multiple lipomatosis (HHML), fibroadipose overgrowth and Klippel-Trenaunay syndrome. Mosaic gain of function mutation in PIK3CA gene leads to abnormal AKT-mTOR pathway activation and is responsible of the clinical manifestations. Here, we summarize the current knowledge on this disorder.

CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS).

Overgrowth syndromes are characterized by global or localized disproportionate growth associated with other anomalies, including vascular malformations and neurological and/or visceral disorders. CLOVES (Congenital Lipomatous asymmetric Overgrowth of the trunk with lymphatic, capillary, venous, and combined-type Vascular malformations, Epidermal naevi, Scoliosis/Skeletal and spinal anomalies) is an overgrowth syndrome caused by mosaic activating mutation in gene PIK3CA, which gives rise to abnormal PI3K-AKT-mTOR pathway activation. These mutations are responsible for the clinical manifestations of the syndrome, which include low- and high-flow vascular malformations, thoracic lipomatous hyperplasia, asymmetric growth, and visceral and neurological disorders. These common anomalies are illustrated with figures from two personal cases. Identification of the clinical and genetic characteristics of CLOVES syndrome is crucial for the differential diagnosis with other overgrowth syndromes, such as Proteus or Klippel-Trenaunay (K-T) syndromes, and for the therapeutic management of the different anomalies. In this context, a new entity comprising different syndromes with phenotypic mutations in PIK3CA has been proposed, designated PIK3CA-related overgrowth spectrum (PROS), with the aim of facilitating clinical management and establishing appropriate genetic study criteria.

3:00 PMAbstract No. 296 - ▪ FEATURED ABSTRACT Percutaneous image-guided cryoablation of soft-tissue venous vascular malformations: a study of safety and efficacy

3:00 PMAbstract No. 296 - ▪ FEATURED ABSTRACT Percutaneous image-guided cryoablation of soft-tissue venous vascular malformations: a study of safety and efficacy

Clinical analysis of the resection of intracranial cavernous malformation complicated with venous malformation

Objective To preliminarily discuss the operation strategy in patients with intracranial cavernous hemangioma complicated with venous malformation. Methods The clinical data and postoperative follow-up results of 13 patients with intracranial cavernous hemangioma complicated with venous malformation operated at the Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University from January 2007 to December 2014 were analyzed retrospectively. Results In the 13 patients, intracranial cavernous malformation complicated with venous malformation achieved total resection in 7 patients. They all developed severe cerebral edema after procedure. Four of them were in the supratentorial region, their prognoses were good after strengthening dehydration treatment, and 1 in the supratentorial region died, and 2 left sequelae. The postoperative condition was stable and the prognosis was good in 4 patients whose abnormal expansion of medullary veins were resected, the main drainage veins were retained and in 2 patients whose venous vascular malformations were retained. Conclusion In the operation of resection of intracranial cavernous malformation complicated with venous malformation, the resection of abnormally dilated medullary veins and retaining main draining veins at the same time of the total resection of cavernous malformation are more conducive to the rehabilitation of patients. Key words: Hemangioma, cavernous, central nervous system; Venous malformation; Microsurgery

Venous vascular malformation of the floor of mouth masquerading as a dermoid tumor

Venous vascular malformations (VVMs) are described as abnormal post-capillary lesions which exhibit low flow. These are typically malleable and may grow with endocrine fluctuations. A VVM that mimics the classic appearance of dermoid tumor on imaging has never been reported. We encountered a 43-year-old woman with intermittent dysphagia relating to a firm submandibular mass. Physical exam and cross-sectional imaging revealed features consistent with variant dermoid cyst. However, catheter angiography eventually demonstrated a VVM which possessed vessels of variable size and partial thrombosis. We report the case and propose that catheter angiography remains important in cases where vascular malformation is considered.

Analysis and Treatment of Multiple Severe Venous Vascular Malformation Syndrome Combined with Coagulopathy.

Analysis and Treatment of Multiple Severe Venous Vascular Malformation Syndrome Combined with Coagulopathy.

MR Angiographic-Guided Percutaneous Sclerotherapy for Venous Vascular Malformations: A Radiation Dose-Reduction Strategy.

We present a new technique using MRA instead of the usual DSA to provide guidance in the treatment of venous vascular malformations. When one performs this embolization procedure, appropriate needle positioning within the malformation must be confirmed before injection of the sclerosing agent to prevent untoward complications. Time-resolved imaging of contrast kinetics-MRA can accurately depict the angioarchitecture of the lesion, which substantially reduces the total radiation dose in these patients who are commonly in the pediatric age group and usually require numerous treatment episodes.

The role of MRI in the evaluation of vascular malformations

Objective The aim of this study was to evaluate the role of MRI and MR angiography in the assessment of vascular malformations as compared with the usefulness of duplex sonography and digital subtraction arteriography. Participants and methods A total of 40 patients (age range, 1-35 years; 21 male and 19 female) with diagnosed vascular malformations on the basis of color duplex imaging were examined on a 1.5 T whole-body MR scanner. Using parameters based on a fast localizer sequence, we acquired axial or coronal T1-, T2-, short-time inversion recovery (STIR) and contrast-enhanced T1-weighted images. Dynamic postcontrast three-dimensional (3D) gradient-echo MRIs were used for patients with high-flow arteriovenous malformation. MR data sets were evaluated for the detection of the lesion, determination of the malformation extent, involvement of surrounding structures, and vascular details with regard to the nidus, feeding arteries, and draining veins. Results were compared with findings from the digital subtraction angiography (DSA). Results All MRIs revealed 14 low-flow venous vascular malformations, 12 high-flow arteriovenous malformations, and 14 hemangiomas. The STIR sequence was helpful for determining the extent of vascular malformation, whereas dynamic postcontrast 3D MR angiography helped in the classification of the type of the vascular malformation. MR angiography was inferior to DSA in revealing the vascular details and for interventional procedure planning. Conclusion MRI and MR angiography appear to play a significant role in the assessment of vascular malformations. The protocol for imaging such vascular malformations should include dynamic postcontrast 3D gradient-echo MRI with STIR sequences. However, DSA is still required for more vascular detail delineation and definitive treatment decisions.

Syndrome CLOVES : un syndrome malformatif proche du syndrome de Protée

CLOVES syndrome (Congenital Lipomatous asymmetric Overgrowth of the trunk with lymphatic, capillary, venous, and combined-type Vascular malformations, Epidermal nevi, Skeletal anomalies) is a sporadic malformational syndrome that has recently been described (mutation of PIK3CA), with asymmetric body hypertrophy, lipomatous hamartoma of the trunk and numerous malformations. We report a case of CLOVES syndrome initially diagnosed as Proteus syndrome, revealed by infection of a dorsal lipomatous hamartoma. The patient presented with both right lower limb hypertrophy and capillary and venous-lymphatic malformations, associated with dorsal capillary malformations, left cervico-facial hypertrophy, and cervical epidermal hamartoma, all of which are consistent with Proteus syndrome. Imaging of the dorsal lipomatous hamartoma associated with capillary as well as underlying venous-lymphatic malformations and syringomyelia resulted in subsequent correction of the earlier diagnosis of Proteus syndrome to that of CLOVES syndrome. Several malformational syndromes are associated with tissue hypertrophy, hamartoma and vascular malformations. Diagnosis of CLOVES syndrome may be delayed due to its fairly close phenotypic similarity to Proteus syndrome. Nevertheless, the prognosis and complications differ. Our case underlines the importance of considering a diagnosis of CLOVES syndrome in the presence of lipomatous hamartoma with hemi-hypertrophy and epidermal hamartoma, in order to enable adequate follow-up with specific monitoring for the possible complications associated with this disease.

E-053 Management of Tongue Venous and Lymphatic Vascular Malformations

PurposeTo determine the efficacy of ethanol embolisation in management of tongue vascular malformations.Materials and MethodsThirty-nine patients (22 females, 17 males; mean age: 38 years) presented with tongue vascular malformations. Forty-seven...

Terminal Deletion 2q37.3 in a Patient with Klippel-Trenaunay-Weber Syndrome

Klippel-Trenaunay-Weber syndrome (KTWS) is a rare congenital disorder, characterized by capillary, venous and lymphatic vascular malformations in association with bone and soft tissue hypertrophy. We report a KTWS patient with extensive hemangiomatosis of the right lower limb, trunk and upper limbs; bone and soft tissue hypertrophy of upper limbs, scapular girdle and right lower limb; and muscle atrophy on left lower limb with marked body asymmetry, scoliosis and toe malformations. These pathological features are associated with moderate mental retardation, mild renal and hepatic abnormalities. We identified by array CGH (Comparative Genomic Hybridization) a submicroscopic deletion 2q37.3 that could be related to impaired cognitive function. To our knowledge this is the first reported 2q37.3 microdeletion in a patient with KTWS.

Percutaneous Cryotherapy of Vascular Malformation: Initial Experience

The present report describes a case of percutaneous cryotherapy in a 36-year-old woman with a large and painful pectoral venous malformation. Cryoablation was performed in a single session for this 9-cm mass with 24 h hospitalisation. At 2- and 6-month follow-up, the pain had completely disappeared, and magnetic resonance imaging demonstrated a significant decrease in size. Percutaneous cryoablation shows promise as a feasible and apparently safe method for local control in patients with symptomatic venous vascular malformations.

Clinically obscure venous malformation in the sub mandibular triangle: A rare presentation

Vascular lesions have been classified as hemangiomas or vascular malformations depending on the presence of cellular proliferation. These lesions have been known to cause significant morbidity and even mortality in both children and adults. Confusing nomenclature, relative rarity of these lesions, inappropriate diagnosis, lack of precise imaging studies and deficiency of multidisciplinary approach are some of the factors which result in ineffective treatment of such patients. Here, we report a rare case of venous vascular malformation presenting as a mass in the sub mandibular region with no clinical stigmata which was diagnosed with the help of various imaging techniques and subsequently treated by surgery.

US and MRI features in venous vascular malformation of the abdominal wall. A case report

Vascular anomalies are classified as vascular tumors and vascular malformations. Venous vascular malformations are the most common type of vascular malformation. They may be isolated or multiple and they rarely affect the trunk. The authors report a rare case of isolated venous vascular malformation of the abdominal wall with an emphasis on the related MRI and ultrasound (US) features.

Role of magnetic resonance venography in evaluation of cerebral veins and sinuses occlusion

IntroductionCerebral venous occlusion (CVO) means intraluminal obstruction by cerebral venous thrombosis (CVT) or external compression. The differential diagnosis is broad including stroke, brain capillary telangiectasia, contusion, hypertensive hemorrhage, metastases and venous vascular malformations. MRI in conjunction with MRV is considered the modality of choice in diagnosis of CVO. ObjectiveTo assess the role of magnetic resonance venography in the evaluation of cerebral veins and sinuses occlusion. MethodsThe study was conducted on 15 patients with cerebral venous occlusion and subjected to MRI and MRV. ResultsThe study included 13 patients with cerebral venous occlusion due to thrombosis and two patients with occlusion by tumors (meningioma). ConclusionMRI in conjunction with MRV is considered an accurate, safe, non-invasive, non-ionizing diagnostic modality in assessing CVO. It can assess parenchymal lesions and detect intraluminal small thrombi and its extension.

Bilateral submandibular salivary gland venous vascular malformation with ultrasound guided sclerotherapy

Common disease of the salivary gland is sialolithiasis with or without sialadenitis. A young male presented with pain in the left sumandibular region mimicking sialolithiasis. Ultrasonography showed focal hypoechoic lesions with calcifications on both sides. CT and MRI confirmed the diagnosis of venous vascular malformation. Focal lesions like venous vascular malformation should be considered in differential diagnosis whenever focal calcifications are seen, as it could represent phleboliths. Doppler applications are mandatory in all focal lesions of salivary glands. In the management, ultrasound guided local sclerotherapy was used as primary treatment. This unusual presentation and management makes this case interesting.

Tratamento a laser das malformações vasculares venosas

To evaluate whether treatment of venous congenital vascular malformations with the use of laser technology provides lightening or disappearance of lesions with a high degree of satisfaction reported by patients and observed by the physician. A retrospective study gathered 26 patients suffering from vascular malformation, of which 73.07% were female and were treated with the PhotoDerm® device. The treatment of vascular malformations needed an average of 6.43 sessions, with intervals of six to eight weeks. Patients included in this study had skin type II (57.40%) and type III (42.30%), according to the Fitzpatric's classification. The mean age ranged from 14 to 61 years, averaging 36.70 years. Data were obtained through the completion of an informed protocol by the patient. High satisfaction rates were reported (96.16%) and only one case (3.84%) was partially satisfied when considering lightening or disappearance of lesions. When evaluated by medical professionals, lesions disappeared in 80.76% and became lighter in 19.24%. The treatment of venous vascular malformations with Photo-Derm® is safe and effective as it offered a high degree of patient satisfaction and good results in the disappearance of the lesions.