Slow-flow Vascular Malformation Research Articles

Glomangiomyoma: An unusual neck mass with atypical presentation in a child- A case report

Background: Glomangiomyoma is a rare histological variant of glomus tumour. Clinically, it was referred to as enlarged cervical lymph node and is challenging to diagnose. Only one case was reported in the neck of a child so far in the literature. Case summary: A 10 year old girl presented with the complaints of painful progressive neck swelling in the left side for two and half year. Sonography and Contrast enhanced CT neck suggested a slow flow vascular malformation and fine needle aspiration cytology (FNAC) was inconclusive, demonstrating only a few blood cells. The mass was removed in toto under general anaesthesia without postoperative complications. The histopathology confirmed it to be glomangiomyoma Conclusion: It is an extremely rare variant of glomus tumour and only one case of a Glomangiomyoma reported in the neck of a child. Although it is a rare occurrence, when encountering a subcutaneous mass that initially appears a venous malformation but exhibits pain, consideration should be given to glomus tumours or related conditions.

Klippel–Trenaunay–Weber Syndrome—Case Report: Diagnostic Role of Fetal Autopsy and Histopathology

Abstract Objectives The aim of this study was to evaluate a case of Klippel–Trenaunay–Weber Syndrome (KTWS) diagnosed at 15 weeks of gestation. Materials and Methods A 30-year-old G4P1L1A2 at 15 weeks gestation was detected with abnormal fetal right lower limb thickness and hypervascularity in both thighs. Multiseptated hypoechoic areas were detected involving skin and subcutaneous tissue of the left shoulder region, axilla, chest wall, and lower back region posteriorly extending into both lower limbs associated with cortical thickening of long bones of the lower limb. Significant subcutaneous thickening was present in the right foot along with a slow flow vascular malformation. The couple did not opt for any prenatal testing and continued the pregnancy. Results The patient received routine antenatal care and at 27 weeks of gestation there was polyhydramnios with fetal demise. She delivered a macerated stillborn baby girl weighing 2.5 kg (>99th centile). Consent was obtained for external autopsy, fetal photographs, and tissue biopsy. The fetus was grossly macerated. The skin was hypertrophied and subcutaneous tissue along with bluish discoloration was present over the affected areas. Histopathology of fetal thigh tissue was suggestive of arteriovenous malformation compatible with a diagnosis of KTWS. Conclusions KTWS has unique sonographic features. Confirmation can be done by clinical exome sequencing of amniotic fluid or fetal tissue.

Pathophysiology of Slow-Flow Vascular Malformations: Current Understanding and Unanswered Questions.

Slow-flow vascular malformations include venous, lymphatic, and lymphaticovenous malformations. Recent studies have linked genetic variants hyperactivating either the PI3K/AKT/mTOR and/or RAS/RAF/MAPK signaling pathways with slow-flow vascular malformation development, leading to the use of pharmacotherapies such as sirolimus and alpelisib. It is important that clinicians understand basic and translational research advances in slow-flow vascular malformations. A literature review of basic science publications in slow-flow vascular malformations was performed on Pubmed, using search terms "venous malformation," "lymphatic malformation," "lymphaticovenous malformation," "genetic variant," "genetic mutation," "endothelial cells," and "animal model." Relevant publications were reviewed and summarized. The study of patient tissues and the use of primary pathogenic endothelial cells from vascular malformations shed light on their pathological behaviors, such as endothelial cell hyperproliferation and disruptions in vessel architecture. The use of xenograft and transgenic animal models confirmed the pathogenicity of genetic variants and allowed for preclinical testing of potential therapies. These discoveries underscore the importance of basic and translational research in understanding the pathophysiology of vascular malformations, which will allow for the development of improved biologically targeted treatments. Despite basic and translation advances, a cure for slow-flow vascular malformations remains elusive. Many questions remain unanswered, including how genotype variants result in phenotypes, and genotype-phenotype heterogeneity. Continued research into venous and lymphatic malformation pathobiology is critical in understanding the mechanisms by which genetic variants contribute to vascular malformation phenotypic features.

Fibroadipose vascular anomaly: a clinicopathological study of 75 cases.

Fibroadipose vascular anomaly (FAVA) is a complex vascular malformation that is likely to be under-recognised. In this study we aimed to report the pathological features and somatic PIK3CA mutations associated with the most common clinicopathological features. Cases were identified by reviewing the lesions resected from patients with FAVA registered at our Haemangioma Surgery Centre and unusual intramuscular vascular anomalies in our pathology database. There were 23 males and 52 females, who ranged in age from 1 to 51 years. Most cases occurred in the lower extremities (n = 62). The majority of the lesions were intramuscular, with a few disrupting the overlying fascia and involving subcutaneous fat (19 of 75), and a minority of the cases had cutaneous vascular stains (13 of 75). Histopathologically, the lesion was composed of anomalous vascular components that were intertwined with mature adipocytic and dense fibrous tissues and vascular components with: (a) clusters of thin-walled channels, some with blood-filled nodules and others with thin walls resembling pulmonary alveoli; (b) numerous small vessels (arteries, veins and indeterminate channels) - proliferative small blood vessels were often mixed with adipose tissue; (c) larger abnormal venous channels usually irregularly and sometimes excessively muscularised; (d) lymphoid aggregates or lymphoplasmacytic aggregates were usually observed; and (e) lymphatic malformations were sometimes seen as minor elements. All patients had their lessons subjected to PCR, and 53 patients had somatic PIK3CA mutations (53 of 75). FAVA is a slow-flow vascular malformation with specific clinicopathological and molecular characteristics. Its recognition is fundamental for its clinical/prognostic implications and for targeted therapy.

Development of hemodynamically relevant acquired arterio-venous fistulae in patients with venous malformations.

Venous malformations tend to retain their slow-flow behavior, even in progressive disease or regression following therapy. The aim of this study is to analyze the development of acquired hemodynamic relevant arterio-venous fistulae in patients with slow-flow malformations. This study is a retrospective analysis based on a consecutive local registry at a tertiary care Interdisciplinary Center for Vascular Anomalies. Patients with venous malformations and development of secondary arterio-venous fistulae were included. Indications for therapy of the vascular malformation were based on patients' symptoms and complications. The following endpoints were of clinical interest and were assessed: origin of development of arteriovenous fistula, development of secondary comorbidities as a result of the vascular malformation. For analysis we focused on descriptive statistics. Out of 1213 consecutive patients with vascular malformations, in 6 patients perfusion changed from slow flow to arterio-venous fast-flow patterns. Four patients developed the fistula after local trauma in the area of the malformation, the other 2 patients developed the fistula due to progression of the disease and recurrent thrombophlebitis. These 2 patients had no trauma or interventions at the time of arterio-venous fistula development. Acquired arterio-venous fast-flow fistula in patients with slow flow vascular malformation is very rare and might be a result of local trauma or the progression of the disease with recurrent thrombophlebitis. Specific evidence-based treatment options for these patients do not exist.

MRI Evaluation of Soft Tissue Tumors and Tumor-Like Lesions of Extremities.

The current study aimed to evaluate the use of magnetic resonance imaging (MRI) in the diagnosis of extremity soft tissue tumors and tumor-like abnormalities. This prospective observational study of 71 patients with soft tissue lesionsof extremities was conducted at a tertiary hospital and teaching center in western India after obtaining Institutional Ethical Committee (IEC) clearance. All patients underwent an MRI of the region of interest on Siemens Magnetom Vida 3 Tesla MRI (Erlangen, Germany). MRI findings and diagnosis were correlated clinically and with histopathological examination. A total of 71 patients (49 males and 22 females) in the age group of six to 90 years were included in our study. Out of 44 patients with soft tissue tumors, the most common lesion was neurofibroma (18.1%), followed by lipoma and undifferentiatedsarcoma (9.1% each). Liposarcoma, myxoid liposarcoma, giant cell tumor of the tendon, pigmented villonodular synovitis, and schwannoma were seen in 4.5% of patients each. The soft tissue tumor-like lesions were seen in 27 (38%) patients, the most common being slow-flow vascular malformation, which was seen in 9/27 (33%) patients. The second most common pathology was actinomycosis, seen in four (14.8%) patients. Out of 44 patients with soft tissue tumors, 27 (61.4%) were benign and 17 (38.6%) were malignant.Tumor size of more than 5 cm was more commonly seen in malignant tumors (70.5%) than benign tumors (40.7%). The smooth margin was more common in benign tumors (70.3), while most malignant tumors (70.5%) had irregular or lobulated margins.Heterogenous enhancement was more common in malignant tumors (82.3%) than benign tumors (62.9). The odds of a benign histopathological diagnosis for a tumor suspected to be benign by MRI were 93.75 times higher than the odds of a benign histopathological diagnosis for a tumor suspected to be malignant by MRI. MRI is extremely useful in the evaluation of different soft tissue masses and helps in evaluating the characteristics of the masses, their extent and relationship to surrounding structures, and bone destruction, multiplicity, composition, and enhancement pattern. The systematic imaging analysis approach helps to differentiate a benign lesion from a malignant lesion and also in differentiating various soft tissue tumor mimics.

Paediatric Facial Malformation - A Case Report

Arteriovenous malformations (AVMs) are rare congenital vascular malformations. They account for 1.5% of all vascular anomalies. Oral and maxillofacial regions are the common sites and account for 50% of the cases. We report a seven-year-old female child with progressive left cheek swelling for the past two years. There was no pain, dysphagia or difficulty in chewing food. But the swelling caused significant cosmetic concern due to facial disfigurement. There was a history of cystic hygroma, operated at a young age. There is no significant family history of vascular anomalies. Child was investigated and diagnosed to have slow flow vascular malformation. Treatment is a multidisciplinary approach. Minimally invasive procedures can conservatively manage it by injecting drugs. Other options are laser therapy, open surgery and a combination of the above treatments. Our case improved after multiple cycles of foam sclerotherapy. Many cases might not improve with one or two injections, but it requires multiple doses. Arteriovenous malformation is not only a physical problem but also involves psychological concern for the child. Though it may be a benign condition, it might cause facial disfigurement, as in our case. A high index of suspicion is required as it is incidentally diagnosed during dental procedures. Multimodality therapy is necessary for the management and is beneficial in all age groups. The present case is published for its rarity.

Sirolimus (Rapamycin) for Slow-Flow Malformations in Children

Sirolimus is increasingly being used to treat various vascular anomalies, although evidence of its efficacy is lacking. To assess the efficacy and safety of sirolimus for children with slow-flow vascular malformations to better delineate the indications for treatment. This multicenter, open-label, observational-phase randomized clinical trial included 59 children aged 6 to 18 years with a slow-flow vascular malformation who were recruited between September 28, 2015, and March 22, 2018, in 11 French tertiary hospital centers. Statistical analysis was performed on an intent-to-treat basis from December 4, 2019, to November 10, 2020. Patients underwent an observational period, then switched to an interventional period when they received oral sirolimus (target serum levels, 4-12 ng/mL). The switch time was randomized from month 4 to month 8, and the whole study period lasted 12 months for each patient. The primary outcome was change in the volume of vascular malformations detected on magnetic resonance imaging scan (with centralized interpretation) per unit of time (ie, between the interventional period and the observational period). Secondary outcomes included subjective end points: pain, bleeding, oozing, quality of life, and safety. Among the participants (35 girls [59.3%]; mean [SD] age, 11.6 [3.8] years), 22 (37.3%) had a pure venous malformation, 18 (30.5%) had a cystic lymphatic malformation, and 19 (32.2%) had a combined malformation, including syndromic forms. Variations in the volume of vascular malformations detected on magnetic resonance imaging scans associated with the duration period were not overall significantly different between the interventional period and the observational period (all vascular malformations: mean [SD] difference, -0.001 [0.007]; venous malformations: mean [SD] difference, 0.001 [0.004]; combined malformations: mean [SD] difference, 0.001 [0.009]). However, a significant decrease in volume was observed for children with pure lymphatic malformations (mean [SD] difference, -0.005 [0.005]). Overall, sirolimus had positive effects on pain, especially for combined malformations, and on bleeding, oozing, self-assessed efficacy, and quality of life. During sirolimus treatment, 56 patients experienced 231 adverse events (5 serious adverse events, none life-threatening). The most frequent adverse event was an oral ulcer (29 patients [49.2%]). This observational-phase randomized clinical trial allows for clarifying the goals of patients and families when starting sirolimus therapy for children older than 6 years. Pure lymphatic malformations seem to be the best indication for sirolimus therapy because evidence of decreasing lymphatic malformation volume per unit of time, oozing, and bleeding and increasing quality of life was found. In combined malformations, sirolimus significantly reduced pain, oozing, and bleeding. Benefits seemed lower for pure venous malformations than for the 2 other subgroups, also based on symptoms. ClinicalTrials.gov Identifier: NCT02509468; clinicaltrialsregister.eu Identifier: 2015-001096-43.

Intralesional Bleomycin injection in head and neck haemangioma and vascular malformation: A nonsurgical treatment

Background: Successful management of vascular anomaly of head and neck region are often challenging. As the surgical modality carries high complications and bad aesthetic outcome, the treatment paradigm for these lesions has been shifting towards the non-invasive one. Because of its high sclerosing effect on vascular endothelium, low cost and easy availability intralesional Bleomycin injection can be an alternative.Objective: To determine the efficacy and safety of intralesional Bleomycin sclerotherapy for head and neck haemangioma and slow flow vascular malformation.Methods: Thirty-six patients (12 males and 24 females) with head and neck haemangioma and slow flow vascular malformations were treated with intralesional Bleomycin injection in the dose of 0.5mg/kg/dose (not exceeding 15 mg/dose) in a medical college of Nepal. The repeat injection was offered every three weeks if needed. The size of the lesion was measured and serial photographs were taken. Complications were also recorded.Results: Ten patients (28%) had complete resolution (cured), 19 patients (53%) had marked improvement five (14%) had mild improvement and two (6%) had no response. Minor complications like fever and transient rise in temperature were seen in eight patients (22%). Hyperpigmentation of the overlying skin were observed in four (11%). None of the patients developed haematological toxic side effects or pulmonary fibrosis during the follow up.Conclusion: Intralesional Bleomycin injection is simple, safe, effective and non-invasive modality of the treatment for head and neck haemangioma and slow flow vascular malformation.

The Usefulness of Surgical Treatment in Slow-Flow Vascular Malformation Patients.

BackgroundMany difficulties exist in establishing a treatment plan for slow-flow vascular malformation (SFVM). In particular, little research has been conducted on the surgical treatment of SFVMs. Thus, we investigated what proportion of SFVM patients were candidates for surgical treatment in clinical practice and how useful surgical treatment was in those patients. MethodsThis study included 109 SFVM patients who received care at the authors’ clinic from 2007 to 2015. We classified the patients as operable or non-operable, and analyzed whether the operability and the extent of the excision varied according to the subtype and location of the SFVM. Additionally, we investigated complications and self-assessed satisfaction scores. ResultsOf the 109 SFVM patients, 59 (54%) were operable, while 50 (46%) were nonoperable. Total excision could be performed in 44% of the operable SFVM patients. Lymphatic malformations were frequently non-operable, while capillary malformations were relatively operable (P=0.042). Total excision of venous malformations could generally be performed, while lymphatic malformations and combined vascular malformations generally could only undergo partial excision (P=0.048). Complications occurred in 11% of the SFVM patients who underwent surgery; these were minor complications, except for 1 case. The average overall satisfaction score was 4.19 out of 5. ConclusionsBased on many years of experience, we found that approximately half (54%) of SFVM patients were able to undergo surgery, and around half (44%) of those patients were able to fully recover after a total excision.Among the patients who underwent surgical treatment, high satisfaction was found overall and relatively few complications were reported.

The yield of initial conventional MRI in 115 cases of angiographically confirmed spinal vascular malformations.

MRI is the primary screening tool for patients with myelopathy. The decision to obtain additional imaging, notably spinal angiography, is generally based on initial MRI findings. This study retrospectively analyzed the yield of initial MRI in a cohort of patients with angiographically confirmed vascular malformations. MRI obtained at symptom onset was available in 115 patients with either high-flow (29 cases) or low-flow (86 cases) vascular malformations. MRI was classified as "positive" when the report mentioned a vascular malformation or "negative" when considered normal or when another diagnosis was suggested. Initial MRI was positive in 61 patients (53.0%), correctly identifying 28 high-flow (96.6%) but only 33 low-flow (38.4%) lesions. Flow voids were noted in 96.6% of the high-flow lesions and 38.4% of the low-flow ones. T2-signal anomalies (77.4%) and parenchymal enhancement (54.5%) were also common in low-flow anomalies. Patients with negative MRI had an average delay of 111days before angiography and 239days before therapy; these intervals were 27 and 76days for those with positive MRIs. In summary, MRI shows a high yield for high-flow vascular malformations, i.e., characterized by prominent flow voids on T2-weighted images, but misdiagnosed over 60% of low-flow lesions. The percentage of correctly identified anomalies matched the percentage of observed flow voids in both groups, indicating over-reliance on this sign for the diagnosis of slow-flow lesions. MRI findings in slow-flow vascular malformation overlap with other conditions, notably transverse myelitis, which was initially misattributed to 40% of the slow-flow lesions in our cohort.

One-Per-Mil Tumescent Infiltration Technique for Vascular Malformation Surgery in Hand and Upper Extremity.

To present the efficacy of 1:1,000,000 tumescent solution for resection of vascular malformation in hand and upper extremity without tourniquet application. Four patients with five slow flow vascular malformations were retrospectively reviewed. Prior to incision, 1:1,000,000 tumescent solution was infiltrated subcutaneously surrounding the lesion until the skin turned pale. Amount of tumescent solution injected, the length of surgery, the clarity of the operative field, and the complications were recorded. Clarity of operative field was categorized as totally bloodless, minimum bleeding, acceptable bleeding, and bloody. In the surgeries under local anesthesia, we also recorded self-reported intra-operative pain using VAS score, onset of pain, and conversion of anesthesia. The injected amount of the tumescent solution ranged from 4.5 to 200 mL, with the length of surgery ranged from 60 to 150 minutes. One out of 5 cases was totally bloodless, 3 cases were minimum bleeding and 1 case was acceptable bleeding. Minor skin necrosis was recorded in 1 patient. Neither intra-operative pain nor conversion from local to general anesthesia was reported. 1:1,000,000 tumescent solution is effective for resection of slow flow vascular malformation in hand and upper extremity without tourniquet application.

A case report: Pulmonary venous malformation complicated with pulmonary hemorrhage

Pulmonary venous malformation is extremely rare. We present imaging and clinical findings of a 17-year-old male with multifocal subcutaneous venous malformations and multiple cystic lesions in the liver and spleen, suggestive of slow flow vascular malformation. In the right lung, chest radiography followed by chest CT demonstrated large tortuous pulmonary veins and cystic emphysematous changes. Tc99m-MAA (pertechnetate-labeled macroaggregated albumin) lung perfusion scan demonstrated only 3% of normal perfusion to the right lung, with no evidence of arteriovenous shunting. The child had diffuse intraparenchymal hemorrhage throughout the right lower and middle lobes and underwent resection. Pathology confirmed the diagnosis of venous malformation complicated with bleeding.

Susceptibility-weighted angiography for the detection of high-flow intracranial vascular lesions: preliminary study

Susceptibility-weighted magnetic resonance imaging (MRI) sequences may demonstrate various signal intensities of draining veins in cases of high-flow vascular malformation (HFVM), including arteriovenous malformation (AVM) and dural arteriovenous fistula (dAVF). Our objective was to evaluate susceptibility-weighted angiography (SWAN) for the detection of HFVM. Fifty-eight consecutive patients with a suspected intracranial vascular malformation were explored with SWAN and post-contrast MRI sequences at 3 T. The diagnosis of slow-flow vascular malformation (SFVM), including developmental venous anomaly (DVA) or brain capillary telangiectasia (BCT), was based on MRI. Patients with suspected HFVM underwent digital subtraction angiography (DSA). SWAN images were analysed by three blinded readers according to a three-point scale of the venous signal. Thirty-one patients presented 35 SFVM (26 DVA and 9 BCT) that systematically appeared hypointense on SWAN images. In patients with atypical MRI findings, DSA revealed one patient with an atypical DVA and 26 patients with HFVM (22 AVM and 4 dAVF). SWAN revealed at least one venous hyperintensity in all patients with HFVM. Agreement between readers was excellent. SWAN appears reliable for characterising blood flow dynamics in brain veins. In clinical practice, SWAN can routinely rule out HFVM in patients with atypical brain veins.

Foot Drop after Ethanol Embolization of Calf Vascular Malformation: A Lesson on Nerve Injury

Ethanol is often used in sclerotherapy to treat vascular malformations. Nerve injury is a known complication of this procedure. However, the management of this complication is not well described in literature. This case describes a 10-year-old boy with a slow flow vascular malformation in the right calf who underwent transarterial ethanol embolization following prior unsuccessful direct percutaneous sclerotherapy. The development of a dense foot drop that subsequently recovered is described, and the management of this uncommon but distressful complication is discussed.