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Background: Screening ultrasound (US) has increased the detection of congenital vascular anomalies in utero. Complementary magnetic resonance imaging (MRI) may improve the diagnosis, but its real utility is still not well established. Objectives: We aimed to describe the imaging findings on prenatal US and MRI of the most frequent congenital vascular anomalies (lymphatic malformations and congenital hemangiomas) to assess the accuracy of prenatal US and MRI exams for diagnosis and to evaluate the relevance of the additional information obtained by complementary fetal MRI. Materials and methods: All confirmed postnatal congenital vascular anomalies detected in the last 10 years at 3 university hospitals were retrospectively identified. The prenatal diagnosis was compared with the final diagnosis for both methods and the clinical relevance of additional MRI information was evaluated. A second MRI in advanced pregnancy was performed in fetuses with lesions in a sensitive anatomical location and the clinical relevance of the additional information was evaluated. Results: Twenty-four cases were included in the study, 20 lymphatic malformations and 4 hemangiomas. MRI slightly improved the diagnosis of lymphatic malformation, 85% vs. 80% at US, especially for abdominal lesions. Both methods had a low identification rate (25%) for tumors. MRI performed late in five fetuses with lymphatic malformation allowed optimized management at birth. Conclusion: MRI improves the diagnosis of congenital lymphatic malformations whereas hemangiomas remain difficult to identify in utero. The main role of MRI is to provide high-defined anatomical data to guide management at birth. [ABSTRACT FROM AUTHOR]

Background: Off-label drug use is associated with an increased risk of adverse drug reactions. It is common in pediatrics and in rare diseases, which are two characteristics applying to vascular anomalies (VA). Objectives: The aim of this work was to quantify off-label drug use in VA and assess its safety. Methods: A review was conducted to extract a list of drugs used in VA management. A drug was considered to have significant safety concerns if a black box warning was present or if a serious adverse drug reaction (SADR) was reported in at least 1% of the patients (SADR is defined as a noxious and unintended response to a drug that occurs at any dose and results in hospitalization, prolongation of existing hospitalization, congenital malformation, persistent or significant disability or incapacity, life-threatening condition, or death). The labelling status and safety of each drug was assessed based on the product monograph, Micromedex, and the FDA data. Results: We found that 98.9% of the inventoried drugs were used off-label or unlicensed for VA management. Only the oral solution of propranolol hydrochloride (Hemangeol®) for the treatment of infantile hemangiomas is approved. Significant safety issues concerned 73% of the drugs and were more frequent among systemic than locally delivered drugs. Conclusions: Off-label drug use in VA is the rule and not the exception. Significant safety concerns are common. It is necessary to carefully weigh risk and benefits for every patient when using systemic and local treatments carrying safety concerns. Patients should be openly informed and involved in the decision-making process. [ABSTRACT FROM AUTHOR]

Arteriovenous malformation (AVM) is a rare condition affecting less than 5/10,000 people, with high misdiagnosis due to its heterogeneity, inconsistent nomenclature, and diverse diagnostic criteria. Understanding its prevalence in this age group is crucial for effective treatment. Here we present a case report of a patient with AVM. IRB approval and patient consent were obtained. This study was done based on SCARE criteria. A 53-year-old female patient was diagnosed with a right hip vascular mass suggestive of AVM. The patient reported painless swelling on the right hip for five years, initially increasing in size but significantly increasing in the last six months. The patient had no history of trauma, neurological or pelvic symptoms, or constitutional symptoms. An examination of the lower limbs revealed a firm, non-tender mass measuring approximately 15 × 15 cm. A thigh MRI revealed a sizable, well-rounded, lobulated soft tissue mass with a stromal structure and pronounced vascularity, indicative of a soft tissue tumor. AVMs misdiagnosis is a significant issue, with 40 % of soft tissue sarcomas still misdiagnosed delaying care and leading to unnecessary measures. A 2015 study found 42.5 % of AMV patients were misdiagnosed, and 71 % were misdiagnosed as hemangiomas. Management involves multidisciplinary approaches, including radiology, sclerotherapy, surgical resection, and chemo/radiotherapy. Sirolimus may improve AVM prognosis. Misdiagnosis of AVMs is a significant issue, with 40 % of soft tissue sarcomas still misdiagnosed. Management involves multidisciplinary approaches, including interventional radiology, sclerotherapy, surgical resection, and chemo/radiotherapy. • A significant proportion of patients with AVMs are diagnosed in their adulthood. • High rates of misdiagnosis have been reported. • Accurate diagnosis of AVM is crucial to guide the selection of appropriate therapeutic options. • AVM management requires a multidisciplinary approach. [ABSTRACT FROM AUTHOR]

Evidence of horseshoe kidney in Indian population is 1 in 600-800 individuals. Horseshoe kidney is predisposed to complications by virtue of its ectopic position, malrotation and associated vascular and ureteral anomalies. Incidence of Renal Cell Carcinoma (RCC) in a horseshoe kidney is same as that in general population. Other pelvic tumours, transitional tumours, Wilms tumour and carcinoids show a greater frequency. High grade urothelial carcinomas are quite rare with a few case reports available. An index case of 75 yeal old male presented with renal mass in an incidentally diagnosed horseshoe kidney on radiologic imaging. The case has been highlighted due to its poorly differentiated tumour morphology and aggressive nature. Further, immunohistochemistry was done to arrive at a correct diagnosis for appropriate treatment. The tumour cells showed positivity for Cytokeratin 7 (CK 7) and CK 5/6. They were negative for p63, PAX-8 (Paired-box gene 8). Also, it is technically difficult to excise large-sized renal mass in an anomalous kidney.

A replaced common hepatic artery during pancreaticoduodenectomy is a challenging condition. Prevalence in the general population is 1.8%. A 6-type anatomic classification system introduced by Huang was adopted. The type II setting with the replaced common hepatic artery running on the ventral side of the pancreas is extraordinarily rare. Preservation of the replaced common hepatic artery during pancreaticoduodenectomy is recommended in all cases where it is possible. [ABSTRACT FROM AUTHOR]

The paper presents the case of a 23-year-old man with multiple venous anomalies. The abnormalities were asymptomatic, and they were detected accidentally on routine abdominal ultrasound examination. The anomalies were found in the inferior vena cava, right testicular vein, left renal vein, and hepatic veins. Familiarity with different developmental variants within the inferior vena cava and other venous vessels plays a crucial role in ultrasound imaging. Vascular anomalies, although rare, should be taken into account in the differential diagnosis of focal lesions within the abdominal cavity. Also, variation in vascular anatomy may be a precipitating factor for blood flow disorders, and hence predispose patients to deep vein thrombosis and other pathological conditions. The reported case serves as a valuable addition to the knowledge of the vascular system that radiologists use in their everyday practice when performing diagnostic ultrasound examinations.

Vascular anomalies (VAs) may be associated with significant morbidity and mortality. The aim of this study was to evaluate the efficacy and safety of sirolimus (rapamycin) in the treatment of children and young adults with complicated VAs. A retrospective chart was created that included 19 patients treated with sirolimus for complicated VAs. Concurrently, a search of the PubMed database for VA cases treated with sirolimus was conducted. Descriptive analysis was performed and the efficiency rate of sirolimus was calculated. This retrospective study included 19 patients, 17 of whom were treated with oral sirolimus and 2 with topical sirolimus. Clinical improvement occurred in 15 patients (79%). One patient experienced near-complete resolution. Only 2 patients showed poor response and discontinued treatment. The literature review analysed 150 cases of VA treated with sirolimus. Sirolimus was efficient in 85% of cases, including 5 cases of complete resolution. Sirolimus appears to be an effective and safe treatment for children and young adults with complicated VAs.

Vascular anomalies comprise a heterogeneous group of disorders characterized by abnormal growth or development of blood vessels. Diagnosis of vascular anomalies is often challenging due to the large variety of conditions, which exhibit phenotypic heterogeneity and a wide range of symptomology and severity. Accurate diagnosis is crucial for appropriate evaluation and management, often requiring multidisciplinary specialists. Recent interdisciplinary collaboration has led to collaborative studies and their outcomes are being prospectively evaluated. While there is still a role for surgical intervention in various vascular anomalies, discoveries of pharmacologic agents effective in treating vascular anomalies have broadened our medical therapeutic options. This paper focuses on vascular anomaly issues often seen by the pediatricians and reviews the clinical pearls on infantile hemangiomas, lymphatic malformations, venous malformations, and arteriovenous malformations.

Abstract Malignant vascular tumors as part of the vascular anomalies spectrum are extremely rare in children and young adults. Instead, benign vascular neoplasias are frequently encountered in the pediatric patient population. While vascular malformations are congenital vascular lesions, originating from a mesenchymal stem cell defect, vascular tumors are neoplastic transformations of endothelial and other vascular cells. The appropriate differential diagnosis and nomenclature according to the classification of the International Society for the Study of Vascular Anomalies (ISSVA) is decisive to initiate correct therapy. While infantile hemangioma can be routinely diagnosed by clinical means and rarely require therapy, more rare vascular tumors are frequently difficult to diagnose, require dedicated cross-sectional imaging, and benefit from an interdisciplinary treatment approach. The focus of this review is to provide an overview over the spectrum of vascular tumors, typical imaging characteristics, and summarize treatment options including interventional radiology approaches.

Aim: To present the endodontic management of a patient diagnosed with a high‐flow arteriovenous malformation (AVM) requiring root canal treatment and to discuss the relevant endodontic literature for this rare but significant problem. Summary: AVM is a complex communication of an artery and a vein in which the oxygenated blood is forced away from the intended tissue. The incidence of its occurrence in the face and neck is rare, and when present, the most common sign is gingival bleeding. Arteriovenous malformation is both a diagnostic and therapeutic challenge for dentists. Also, there is ambiguity regarding the precautions to be taken whilst doing endodontic procedures in such cases. Hence, there is a need to understand the disease process and its implications in order to prevent life‐threatening complications during treatment. This case report highlights the successful endodontic management of a cariously exposed right maxillary second premolar in a patient diagnosed with high‐flow AVM. On an orthopantomogram, the AVM was spreading in the left submandibular space involving the left ramus area. The clinical findings of limited mouth opening with inter‐appointment swelling and trismus during treatment made the case unusual and challenging. This paper addresses the current understanding of the classification, diagnosis, clinical features and endodontic management, together with specific guidelines and recommendations whilst performing endodontic procedures in AVM cases. Key learning points: The classification and oral manifestations of AVM must be known and understood.Practitioners should be aware of the radiographic appearance of AVM.Recommended precautions should be taken when carrying out restorative and endodontic procedures in a patient with AVM.Antibiotic prophylaxis may be considered before endodontic treatment in a patient with AVM.Multidisciplinary treatment planning may be required. [ABSTRACT FROM AUTHOR]

Objectives: Infantile hemangiomas (IHs) are the most common benign tumors in children. Color Doppler ultrasound is a noninvasive imaging modality that can show subclinical anatomic parameters in a wide range of dermatologic conditions. The purpose of this study was to describe the ultrasound characteristics of IHs and look for subclinical features with the potential to influence the involution and therapeutic response. Methods: A review of the ultrasound database of children with clinical and ultrasound IH diagnoses was conducted. The clinically reported duration and the ultrasound assessment of the proliferative phase were compared. Descriptive and statistical analyses of qualitative and quantitative parameters of the series were performed. Significance was set at P <.05. Results: A total of 204 IHs were included. Twenty percent had arteriovenous shunts; 15% had afferent branches from main regional arteries; and almost 30% showed involvement of deep structures. Sixty‐one percent of IHs were in the head and neck. Deep hemangiomas showed significantly thicker lesional vessels. A prolonged proliferative stage was significantly associated with a higher presence of arteriovenous shunts and a higher peak systolic velocity of the arterial vessels (≥15 cm/s) within the lesions. Conclusions: Color Doppler ultrasound can support the detection of subclinical anatomic features that may potentially influence the involution and response to treatment of IHs. Some of these characteristics may serve as potential markers to predict and manage IHs in prolonged proliferative stages. [ABSTRACT FROM AUTHOR]

Venous malformation (VM) is the most common type among vascular malformations classified by the International Society for the Study of Vascular Anomalies. Most VMs are sporadic (94%), caused in 40% of cases by somatic mutation of TEK gene. VMs can be cutaneous, visceral, or combined. Visceral involvement is rare, and gastrointestinal (GI) tract is the most common localization. Visceral VMs, usually asymptomatic, may manifest with bleeding, anemia, and consumptive coagulopathy, which sometimes require an emergency treatment. Our aim is to study the possible GI involvement in patients with only one cutaneous VM. We analyzed a series of six patients who presented with a single cutaneous VM and have subsequently manifested intestinal involvement at our reference center for vascular anomalies since 2010. In our patients, cutaneous VMs were located on lower or upper limbs, and GI involvement manifested from 3 to 10 years after skin diagnosis. Our experience urges to early diagnose a GI involvement also in patients with only one skin VM and to prevent severe complications. A multidisciplinary approach is mandatory for the diagnosis and treatment of these patients. [ABSTRACT FROM AUTHOR]

Cervicofacial lymphatic malformations (CFLM) are rare, potentially life-threatening vascular anomalies, yet reports on multidisciplinary treatment strategies are lacking. We evaluated outcomes for CFLMs following sclerotherapy, surgical resection, and/or medical management. We identified children with a CFLM at a vascular anomalies center from 2004 to 2019. Exclusion criteria: retro-orbital malformations, untreated malformations, patients without follow-up. Primary clinical outcome was contour improvement, with significance defined as LM volume reduction of > 50% by cross-sectional imaging. Sixty-three children met inclusion criteria: 35 with macrocystic CFLMs, six with microcystic CFLMs, and 22 with mixed-type malformations. Mean post-intervention follow-up was 27.5 months. Fifty-eight patients underwent sclerotherapy (median: two treatments). Doxycycline and/or bleomycin were used in 95% of patients. After sclerotherapy, 97% of macrocystic CFLMs improved significantly compared to 82% of mixed and 67% of microcystic lesions. Sixteen children underwent surgical resection with 75% significantly improving; two additional patients were successfully treated with sclerotherapy after debulking surgery. Six children received sirolimus for microcystic disease, of which 33% significantly improved. Sclerotherapy is very effective for macrocystic components of CFLMs, albeit less so for microcystic disease. Microcystic CFLMs frequently require surgical resection. Sirolimus is a helpful therapeutic adjunct, particularly for microcystic lesions, but more study is needed. Level II, prognosis study [ABSTRACT FROM AUTHOR]

Vascular anomalies are vascular lesions that are present from childhood. They are classified into tumours or malformations based on clinical and histological features. Benign infantile haemangiomas are the most common vascular tumour and have a predictable self-limiting course. Rarer vascular tumours exist, and some may cause platelet consumption. Management is usually conservative, with active treatment reserved for functional or cosmetic complications (ulceration, or obstruction and distortion of vital structures). Oral propranolol is useful for troublesome lesions. Vascular malformations are structural anomalies of vascular morphogenesis present at birth without cellular proliferation that, in general, grow with the patient. They are sub-classified by vessel type as 'low flow' (capillary, lymphatic and venous) and 'high flow' (arteriovenous) or lesions with a combination of vessel type. They become problematic under certain circumstances, usually puberty and also pregnancy. The most troublesome are extensive lesions, especially venous and arteriovenous. Their effects may be cosmetic, those of a space-occupying lesion, infection, bleeding, pain or coagulopathy. Venous lesions cause consumptive coagulopathy, sometimes with life-threatening risks. Treatment options include medication and symptom control with antibiotics, analgesia, control of menses, compression garments and intervention with laser (capillary type), sclerotherapy, embolization and/or surgical excision. Patients with complex lesions, are best managed by a multidisciplinary team and all surgical sub-specialties may be involved. [ABSTRACT FROM AUTHOR]

The diagnosis of vascular tumors and malformations is usually achieved with clinical history and physical examination. The imaging of these patients has been sufficiently refined to answer pertinent questions when trying to make an accurate differential diagnosis in order to establish an informed treatment plan. The imaging modalities at hand include ultrasound, doppler sonography, magnetic resonance imaging and contrast material enhanced magnetic resonance angiography. We present two cases of different vascular anomalies that were managed according to the clinical aspect, natural history and imaging performed. Moreover, with better understanding of the imaging features, the radiologist has become a key player in the diagnosis and management plan of the vascular anomalies. This is crucial in avoiding misdiagnosis and improper treatment. [ABSTRACT FROM AUTHOR]

Treatment of vascular anomalies (VAs) is mostly empirical and, in many instances unsatisfactory, as the pathogeneses of these heterogeneous conditions remain largely unknown. There is emerging evidence of the presence of cell populations expressing stemness-associated markers within many types of vascular tumors and vascular malformations. The presence of these populations in VAs is supported, in part, by the observed clinical effect of the mTOR inhibitor, sirolimus, that regulates differentiation of embryonic stem cells (ESCs). The discovery of the central role of the renin-angiotensin system (RAS) in regulating stem cells in infantile hemangioma (IH) provides a plausible explanation for its spontaneous and accelerated involution induced by β-blockers and ACE inhibitors. Recent work on targeting IH stem cells by inhibiting the transcription factor SOX18 using the stereoisomer R(+) propranolol, independent of β-adrenergic blockade, opens up exciting opportunities for novel treatment of IH without the β-adrenergic blockade-related side effects. Gene mutations have been identified in several VAs, involving mainly the PI3K/AKT/mTOR and/or the Ras/RAF/MEK/ERK pathways. Existing cancer therapies that target these pathways engenders the exciting possibility of repurposing these agents for challenging VAs, with early results demonstrating clinical efficacy. However, there are several shortcomings with this approach, including the treatment cost, side effects, emergence of treatment resistance and unknown long-term effects in young patients. The presence of populations expressing stemness-associated markers, including transcription factors involved in the generation of induced pluripotent stem cells (iPSCs), in different types of VAs, suggests the possible role of stem cell pathways in their pathogenesis. Components of the RAS are expressed by cell populations expressing stemness-associated markers in different types of VAs. The gene mutations affecting the PI3K/AKT/mTOR and/or the Ras/RAF/MEK/ERK pathways interact with different components of the RAS, which may influence cell populations expressing stemness-associated markers within VAs. The potential of targeting these populations by manipulating the RAS using repurposed, low-cost and commonly available oral medications, warrants further investigation. This review presents the accumulating evidence demonstrating the presence of stemness-associated markers in VAs, their expression of the RAS, and their interaction with gene mutations affecting the PI3K/AKT/mTOR and/or the Ras/RAF/MEK/ERK pathways, in the pathogenesis of VAs.

Keywords: Venous malformations; vascular anomalies; Nd:YAG laser; bleomycin sclerotherapy; CO2 laser; airway EN Venous malformations vascular anomalies Nd:YAG laser bleomycin sclerotherapy CO2 laser airway E521 E524 4 01/15/21 20210201 NES 210201 INTRODUCTION Venous malformations (VMs) are classified as low-flow vascular lesions composed of abnormal venules present at birth, yet may not be clinically apparent until adulthood.1,2 VMs enlarge passively throughout life through hydrostatic forces and recruitment of collateral venules.3,4 Symptoms may arise secondary to enlargement or phlebolith formation.2-4 Clinically, VMs are soft, compressible, and have a violaceous appearance.3-6 Reversible expansion of the VM can be provoked by dependent position or Valsalva maneuvers.6,7 Up to 40% of VMs occur in the head and neck region, frequently affecting the airway.8 VMs affecting the airway present unique diagnostic and treatment challenges. MATERIALS AND METHODS A brief retrospective review was conducted of patients undergoing multimodal treatment of upper airway VMs using Nd:YAG laser bleomycin sclerotherapy by the senior authors (m.w. and t.m.-j.o.), For patients with redundant supraglottic tissue after sclerotherapy and Nd:YAG treatments, a defocused beam of CO SB 2 sb laser at 3 to 5 W was used to ablate the surplus mucosa under microscopic guidance. (F) Final appearance of the airway of the same patient prior to decannulation 7 months following the start of treatment. gl Patient was brought to the operating room (OR) for an awake tracheotomy and initial treatment with a Nd:YAG laser. [Extracted from the article]

Background: PHACE syndrome is a congenital disorder in infants characterized by the presence of large hemangiomas in the cervicofacial region along with congenital anomalies of the cardiovascular system, brain, and eyes. PHACE syndrome is an extremely rare condition, and PHACE syndrome with parotid hemangiomas has never been reported in the medical literature. Case presentation: A 3-month-old female infant presented with cervicofacial plaques that later involved the left eyelids. The plaques blanched on application of pressure and were diagnosed to be hemangiomas. MRI and MRA studies of the brain showed extensive vascular malformations, agenesis of the left internal carotid artery, and hemangiomas in the parotid glands. A biopsy of the parotid glands confirmed the parotid hemangiomas. Bilateral cataracts and subclavian artery with an aberrant origin were also found. On the basis of the hemangiomas and the arterial, cardiovascular, and ocular abnormalities, PHACE syndrome was diagnosed. A multi-disciplinary treatment approach was begun, but the infant died 20 days after presentation to the hospital. Conclusions: PHACE syndrome is an extremely rare condition that has only been described three hundred times in medical literature. It is usually associated with extensive structural, arterial, ocular, and cutaneous anomalies. However, PHACE syndrome with parotid hemangiomas has never been reported in the medical literature. Hemangiomas are the main diagnostic feature and the most common lesion of this disease. This strong association between PHACE syndrome and hemangiomas suggests the parotid hemangiomas seen in our case to be a new addition to the broad spectrum of anomalies associated with PHACE syndrome. [ABSTRACT FROM AUTHOR]

Vascular anomalies are a common cause of soft-tissue masses in children and often referred for ultrasonographic (USG) evaluation. They are broadly classified as vascular tumors (hemangiomas, hemangioendotheliomas, and angiosarcomas) or vascular malformations (venous malformations, lymphatic malformations, and arteriovenous malformations). Findings on USG and Doppler imaging can be used to categorize vascular anomalies into high- or low-flow lesions, which forms the basis for further workup, diagnosis, and management. On careful evaluation of various sonographic features, in conjunction with clinical findings, an accurate clinicoradiological diagnosis can be made in most cases. Further imaging with magnetic resonance (MR) imaging or computed tomography (CT) helps in delineation of lesion extent, whereas MR or CT angiography is useful to map the vascular supply of high-flow lesions. We have illustrated and discussed a step-by-step approach to diagnose vascular anomalies using ultrasound and Doppler imaging. [ABSTRACT FROM AUTHOR]

Cirsoid aneurysms, formerly identified as arteriovenous malformations (AVMs), represent infrequent vascular anomalies primarily localized within the scalp. These anomalies are typified by the absence of interposing capillaries, giving rise to extensively vascularized, expanded conduits connecting arterial feeders and venous outflows. This report details a case of a 13-year-old male afflicted with a cirsoid aneurysm in the scalp, who presented with swelling on the left frontal region, accompanied by headache and pulsatile sensations. Definitive diagnosis was achieved through radiological and histopathological examinations. Scalp cirsoid aneurysms may either be congenital in nature or arise following traumatic incidents, with clinical manifestations typically surfacing in the third decade of life. Common clinical presentations encompass a palpable, pulsatile subcutaneous mass, throbbing headaches, tinnitus, and cosmetic concerns. Diverse therapeutic strategies, including surgical excision, endovascular embolization, and percutaneous injection of sclerosing agents, can be employed contingent upon the particular characteristics of the lesion., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Gore et al.)

Apart from listening to the cry of a healthy newborn, it is the declaration by the attending paediatrician in the labour room that the child is normal which brings utmost joy to parents. The global incidence of children born with congenital anomalies has been reported to be 3%-6% with more than 90% of these occurring in low- and middle-income group countries. The exact percentages/total numbers of children requiring surgical treatment cannot be estimated for several reasons. These children are operated under several surgical disciplines, viz, paediatric-, plastic reconstructive, neuro-, cardiothoracic-, orthopaedic surgery etc . These conditions may be life-threatening, e.g. , trachea-oesophageal fistula, critical pulmonary stenosis, etc . and require immediate surgical intervention. Some, e.g. , hydrocephalus, may need intervention as soon as the patient is fit for surgery. Some, e.g. , patent ductus arteriosus need 'wait and watch' policy up to a certain age in the hope of spontaneous recovery. Another extremely important category is that of patients where the operative intervention is done based on their age. Almost all the congenital anomalies coming under care of a plastic surgeon are operated as elective surgery (many as multiple stages of correction) at appropriate ages. There are advantages and disadvantages of intervention at different ages. In this article, we present a review of optimal timings, along with reasoning, for surgery of many of the common congenital anomalies which are treated by plastic surgeons. Obstetricians, paediatricians and general practitioners/family physicians, who most often are the first ones to come across such children, must know to guide the parents appropriately and convincingly impress upon the them as to why their child should not be operated immediately and also the consequences of too soon or too late., Competing Interests: Conflict-of-interest statement: Authors declare no conflict of interests for this article., (©The Author(s) 2024. Published by Baishideng Publishing Group Inc. All rights reserved.)

The subclavian steal syndrome (SSS) is defined by the reversal of flow in the ipsilateral vertebral artery in the setting of subclavian artery stenosis proximal to its origin. Here, we describe a rare case of left SSS with significant left subclavian artery stenosis associated with anomalous origin of the left vertebral artery (LVA) directly from the aortic arch in a patient presenting with signs of vertebrobasilar insufficiency and resolution of symptoms following angioplasty. Through this case, the authors try to emphasize the importance and the correct technique of using Doppler ultrasonography, and the importance of invasive angiography in understanding the mechanism of subclavian steal in patients with anomalous LVA origin., Competing Interests: None to declare., (Copyright 2024, Vinod et al.)

Genomic technologies are now utilized for the genetic diagnosis of vascular anomalies. This provides the opportunity for genetic counselors to make a significant contribution to patient care for this complex disease. The aim of this study was to explore Australian healthcare professionals' perspectives on the relatively recent integration of molecular diagnostic testing for vascular anomalies, with or without genetic counseling support. Nine semi-structured interviews were conducted with Australian healthcare professionals involved in the provision of care for individuals with vascular anomalies. Thematic analysis identified six themes: (1) Molecular diagnosis is beneficial; (2) psychosocial needs can motivate families to pursue a molecular diagnosis; (3) molecular genetic testing for vascular anomalies is complex; (4) genetic service provision is not a one size fits all; (5) a client-centered approach for genetic service provision can go a long way; and (6) the value of genetic counselors. Based on our findings, implementation of a vascular anomalies genetic diagnostic program inclusive of genetic counseling may be challenging, yet such programs are likely to benefit both patients and their families, as well as healthcare professionals. As this paradigm shift unfolds, genetic counselors have an opportunity to contribute to the vascular anomaly field by educating healthcare professionals and patients, by participating in multidisciplinary clinics to support complex cases and by raising awareness regarding their practice and potential contributions., (© 2023 The Authors. Journal of Genetic Counseling published by Wiley Periodicals LLC on behalf of National Society of Genetic Counselors.)

This narrative review aims to summarise the classification of vascular anomalies, their clinical presentation, and their radiological features to propose a diagnostic algorithm to approach patients with suspected soft tissue vascular anomalies of the extremities. The management of vascular anomalies necessitates a multidisciplinary approach. Clinical presentation and physical examination are sufficient in most cases to achieve a correct diagnosis. This is especially true for small congenital lesions of the skin and subcutaneous tissue. Imaging is used for accurate characterization of these lesions, especially in cases of atypical or vague clinical presentation, and to assess extension in cases of lesions that are larger and localized in deeper tissues.

Uterine arteriovenous malformation (AVM) is a rare but serious condition that can cause heavy uterine bleeding. It occurs when abnormal connections form between the arteries and veins in the uterus, leading to significant health complications. Accurate identification and diagnosis are crucial because overlooking or mishandling them can lead to severe, life-threatening bleeding. We present the case of a 30-year-old patient presenting with abnormal uterine bleeding 15 days after she gave birth to her second child. The ultrasound examination showed images suggestive of retained ovuloplacental remnants, so a uterine aspiration was performed, but the patient presented severe vaginal bleeding. Subsequently, magnetic resonance imaging (MRI) was performed, demonstrating the presence of a prominent lesion in the posterior wall of the uterine body with multiple serpentine-like pathways and a signal void suggestive of aberrant vessels corresponding to AVMs. Ergotrate and misoprostol were administered to control the bleeding, and a Bakri balloon was inserted and maintained until the bleeding stopped. We are highlighting this case to emphasize the importance of considering uterine AVM (UAVM) when dealing with abnormal uterine bleeding, even in the postpartum period. Due to its rarity, there is a lack of substantial evidence to guide clinicians in managing this condition., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2024, García-Lima et al.)

Introduction: Vascular anomalies are a spectrum of disorders, including vascular tumors and malformations, that often require multispecialty care. The rarity and variety of these lesions make diagnosis, treatment, and management challenging. Despite the recognition of the medical complexity and morbidity associated with vascular anomalies, there is a general lack of education on the subject for pediatric primary care and subspecialty providers. A needs assessment and the lack of an available standardized teaching tool presented an opportunity to create an educational workshop for pediatric trainees using the POGIL (process-oriented guided inquiry learning) framework., Methods: We developed a 2-hour workshop consisting of an introductory didactic followed by small- and large-group collaboration and case-based discussion. The resource included customizable content for learning assessment and evaluation. Residents completed pre- and posttest assessments of content and provided written evaluations of the teaching session., Results: Thirty-four learners in pediatrics participated in the workshop. Session evaluations were positive, with Likert responses of 4.6-4.8 out of 5 on all items. Pre- and posttest comparisons of four content questions showed no overall statistically significant changes in correct response rates. Learners indicated plans to use the clinical content in their practice and particularly appreciated the interactive teaching forum and the comprehensive overview of vascular anomalies., Discussion: Vascular anomalies are complex, potentially morbid, and often lifelong conditions; multispecialty collaboration is key to providing comprehensive care for affected patients. This customizable resource offers a framework for trainees in pediatrics to appropriately recognize, evaluate, and refer patients with vascular anomalies., (© 2024 Mojica and Wolfe.)

Background: Patients with complex rare disorders often require the care of multiple specialists. Effective coordination between primary and specialty care is needed to ensure patients receive high-quality care. Previous research has documented the importance of primary care clinicians providing referrals to specialty care and the importance of specialists in helping patients reach a diagnosis. However, little is known about primary care clinicians' roles in the ongoing care of patients with rare disorders. In the current study, we explored the role of primary care clinicians in the care of rare and complex vascular anomalies., Materials and Methods: Data were collected using semi-structured qualitative interviews with 34 parents and 25 adult patients recruited from advocacy groups for patients with complex vascular anomalies participated. We asked participants about their diagnosis, care experiences, and communication with clinicians. We used thematic analysis to identify themes illustrating the roles of primary care clinicians., Results: PCC roles were characterized by four behaviors. Supporting behaviors included learning more about vascular anomalies and asking participants about the care they received from specialists. Facilitating included providing referrals, ordering tests, and engaging in problem-solving. Interfering included failing to provide referrals or help participants coordinate care, ordering incorrect tests, or making inappropriate recommendations. Disregarding included focusing narrowly on primary care needs and not showing concern about the vascular anomaly., Conclusions: The results reveal opportunities to improve primary care for patients with vascular anomalies. Disregarding and interfering behaviors furthered the division between primary and specialty care for patients with vascular anomalies and prevented patients from receiving comprehensive primary care. Supporting and facilitating behaviors convey genuine interest in the care of the vascular anomaly and a commitment to helping the patient and parent., Competing Interests: There are no conflicts of interest., (Copyright: © 2024 Journal of Family Medicine and Primary Care.)

High temperature requirement A1 (HTRA1) is a member of the serine protease family, comprising four structural domains: IGFBP domain, Kazal domain, protease domain and PDZ domain. HTRA1 encodes a serine protease, a secreted protein that is widely expressed in the vasculature. HTRA1 regulates a wide range of physiological processes through its proteolytic activity, and is also involved in a variety of vascular abnormalities-related diseases. This article reviews the role of HTRA1 in the development of vascular abnormalities-related hereditary cerebral small vessel disease (CSVD), age-related macular degeneration (AMD), tumors and other diseases. Through relevant research advances to understand the role of HTRA1 in regulating signaling pathways or refolding, translocation, degradation of extracellular matrix (ECM) proteins, thus directly or indirectly regulating angiogenesis, vascular remodeling, and playing an important role in vascular homeostasis, further understanding the mechanism of HTRA1's role in vascular abnormality-related diseases is important for HTRA1 to be used as a therapeutic target in related diseases., Competing Interests: The authors report no conflicts of interest in this work., (© 2024 Song et al.)

Background: We aimed to correlate alterations in the rat sarcoma virus (RAS)/mitogen-activated protein kinase pathway in vascular anomalies to the clinical phenotype for improved patient and treatment stratification., Methods and Results: This retrospective multicenter cohort study included 29 patients with extracranial vascular anomalies containing mosaic pathogenic variants (PVs) in genes of the RAS/mitogen-activated protein kinase pathway. Tissue samples were collected during invasive treatment or clinically indicated biopsies. PVs were detected by the targeted sequencing of panels of genes known to be associated with vascular anomalies, performed using DNA from affected tissue. Subgroup analyses were performed according to the affected genes with regard to phenotypic characteristics in a descriptive manner. Twenty-five vascular malformations, 3 vascular tumors, and 1 patient with both a vascular malformation and vascular tumor presented the following distribution of PVs in genes: Kirsten rat sarcoma viral oncogene (n=10), neuroblastoma ras viral oncogene homolog (n=1), Harvey rat sarcoma viral oncogene homolog (n=5), V-Raf murine sarcoma viral oncogene homolog B (n=8), and mitogen-activated protein kinase kinase 1 (n=5). Patients with RAS PVs had advanced disease stages according to the Schobinger classification (stage 3-4: RAS , 9/13 versus non- RAS , 3/11) and more frequent progression after treatment ( RAS , 10/13 versus non- RAS , 2/11). Lesions with Kirsten rat sarcoma viral oncogene PVs infiltrated more tissue layers compared with the other PVs including other RAS PVs (multiple tissue layers: Kirsten rat sarcoma viral oncogene, 8/10 versus other PVs, 6/19)., Conclusions: This comparison of patients with various PVs in genes of the RAS/MAPK pathway provides potential associations with certain morphological and clinical phenotypes. RAS variants were associated with more aggressive phenotypes, generating preliminary data and hypothesis for future larger studies.

The effects of anomalous vasculature impeding optimal exposure to an anterior lumbar interbody fusion approach are limited in literature. We present five individual, unique cases of vascular anomalies in patients undergoing two-stage anterior-posterior lumbar interbody fusion. Cases 1, 2, 4, and 5 have yet to be described in literature in context of anterior lumbar interbody fusions. Case 3 presents anomalous vasculature that has only been described in two other case reports. Case 1 presents the right internal iliac vein originating from the left common iliac vein which was transected for L4-L5 vertebral disc exposure. Case 2 presents the left internal iliac vein originating from the right common iliac vein which required an oblique approach. Case 3 presents a duplicated inferior vena cava that was taken into account but did not interfere with the anterior retroperitoneal approach. Case 4 presents large osteophytes adhering to the left common iliac vein which limited safe dissection and mobilization. Case 5 presents the left internal iliac vein with a high takeoff spanning across the L5-S1 vertebral disc space and requiring transection. This case series highlights the need for preoperative imaging and a working detailed knowledge of anatomy to avoid damaging vasculature that can potentially lead to fatal consequences. The information given in this case series should inform both spine and vascular surgeons on proper preoperative planning. To maximize operative efficiency and safety, spine surgeons and vascular surgeons should collaborate to minimize surgical complications., Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Introduction: The radial forearm free flap (RFFF) quickly became the workhorse for oral cavity and oropharyngeal reconstruction. The Allen's test is relied on preoperatively to determine the suitability of the radial forearm skin for a free flap. The aim of our study is to discuss the different anomalies of the radial artery (RA), highlighting scenarios when Allen's test is not accurate, and we report a rare anomaly of RA anatomy we encountered while raising the flap. Case report: During a RFFF harvest, the RA was found to travel underneath the pronator teres muscle. The superficial venous system was running superficial to the muscle and the deep venous system was running deep. This anomaly has been reported only three times thus far. We report this case to highlight our strategy for addressing the RFFF in a systematic way to avoid complications from unexpected vascular anomalies with a literature review of all other anomalies. Discussion: Free flap surgeons should be aware of vascular anomalies of the forearm that may affect flap harvest. We will focus in our discussion on preoperative detection, intraoperative management and precautions to vascular injury.

Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is classically a RASA1 mutation with small CMs and either central nervous system or musculoskeletal AVMs. However, CM-AVM2 has recently been discovered, and is characterized by an EPHB4 mutation to the EPHB4-RAS-ERK pathway. The skin findings favor those of hereditary hemorrhagic telangiectasia with Bier spots and telangiectasias, and the presence of central nervous system and musculoskeletal AVMs mirror classic CM-AVM. To our knowledge, this is the first report of a visceral AVM in CM-AVM2 in the literature. The patient presented with recurrent gastrointestinal bleeds, and after an extensive workup culminating in diagnostic visceral angiography, was found to have a CM-AVM2 with a jejunal AVM.

Abstract Variations in pulmonary venous anatomy should not be underestimated by thoracic surgeons prior to or during major lung resections in order to avoid serious surgical complications. Here, we report a case of middle lobe vein draining into a right inferior lobar vein formed by two anomalous trunks lying on the superior surface of the common basal bronchus: in such instance, to avoid compromising the middle lobe vein drainage during a thoracoscopic right lower lobectomy, the two main tributaries of the lower lobe vein were individually identified and dissected peripherally from the anterior aspect after division of the major fissure. A careful hilar dissection and a precise surgical strategy can help surgeons perform correct procedures in presence of pulmonary vascular anomalies.

Venous malformations represent a major sector of vascular anomalies. Most cases are asymptomatic or subclinical; however, large extensive lesions can cause severe disability and sometimes mortality. In this report, we present a successful case of sirolimus treatment in managing an extensive venous malformation in the pelvis of a 21-month-old boy who presented with life-threatening complications. With a history dating since the day 2 of life, the patient suffered from chronic bleeding due to scrotal skin ulcerations, in addition to recurrent attacks of severe bleeding per rectum necessitating hospital admission and blood transfusion (three attacks since the age of 7 months). Pelvic magnetic resonance image showed the typical findings of extensive venous malformation involving the pelvis, perineum, scrotum, and extending to the gluteal region. The lesion was seen totally encasing the anorectum with marked thickening of their walls almost occluding their lumen. Oral sirolimus (2 mg/m2) was started with a target blood trough level of 5 to 10 ng/mL. Over a follow-up period of 5 months, there was obvious clinical improvement that included healing of skin lesions (scrotal ulcer) with complete re-epithelialization, absence of bleeding per rectum with improvement of constipation, and rise of hemoglobin level from 7.5 to 11.5 g/dL.

Cardiovascular disorders include various conditions characterized by morphological and functional defects of the heart and vascular system. Molecular biology techniques (in particular DNA sequencing) have recently offered new insights into the etiology of cardiovascular defects, revealing their association with germline as well as somatic mutations.

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.

Abstract Background Percutaneous sclerotherapy is the preferred method of treatment for VMs (venous malformations). However, treatment protocols vary, and research on the most effective sclerosant is conflicting. Additionally, there is limited knowledge on the effect of sclerosant volume on treatment outcome. This study aims to determine the outcomes and complications of image-guided sclerotherapy for VMs with respect to sclerosant and sclerosant volume. Towards this, a 10-year retrospective chart review was conducted of patients with VMs treated with sclerotherapy at the Vascular Anomalies Clinic at British Columbia Children’s Hospital. Results Thirty-four patients with VMs were treated of which 15 had a successful outcome, 13 had a failed outcome, and 6 had additional planned treatments after the study time period. Lesions on the head and neck or classified as type I or II had the highest success rates. Combination therapy with both ethanol and 3% STS (sodium tetradecyl sulphate), and ethanol alone had a higher success rate (64% and 60%) compared to 3% STS (11%). Major complications were most associated with 3% STS (17%) followed by ethanol (9%), and no major complications were found with combination. No relationship between the volume of sclerosant per lesion volume and outcome was found. Conclusions Combination and ethanol were the most effective sclerosants in terms of highest success rates and lowest complication rates, and sclerosant volume per lesion volume had no effect on outcomes. Future work should aim at studying larger sample sizes to account for the multiple factors that may influence the choice of sclerosant and treatment outcomes.

Abstract Background Slow-flow superficial vascular malformations (VMs) are rare congenital anomalies that can be responsible for pain and functional impairment. Currently, we have no guidelines for their management, which can involve physical bandages, sclerotherapy, surgery, anti-inflammatory or anti-coagulation drugs or no treatment. The natural history is progressive and worsening. Mammalian target of rapamycin (mTOR) is a serine/threonine kinase that acts as a master switch in cell proliferation, apoptosis, metabolism and angio/lymphangiogenesis. Sirolimus directly inhibits the mTOR pathway, thereby inhibiting cell proliferation and angio/lymphangiogenesis. Case reports and series have reported successful use of sirolimus in children with different types of vascular anomalies, with heterogeneous outcomes. Objective The objective of this trial is to evaluate the efficacy and safety of sirolimus in children with complicated superficial slow-flow VMs. Methods/design This French multicenter randomized observational-phase, phase 2 trial aims to include 50 pediatric patients 6 to 18 years old who have slow-flow (lymphatic, venous or lymphatico-venous) voluminous complicated superficial VM. Patients will be followed up for 12 months. All patients will start with an observational period (no treatment). Then at a time randomly selected between month 4 and month 8, they will switch to the experimental period (switch time), when they will receive sirolimus until month 12. Each child will undergo MRI 3 times: at baseline, at the switch time, and at month 12. For both periods (observational and treatment), we will calculate the relative change in volume of the VM divided by the study period duration. This relative change weighted by the study period duration will constitute the primary endpoint. VM will be measured by MRI images, which will be centralized and interpreted by the same radiologist who will be blinded to the study period. Hence, each patient will be his/her own control. Secondary outcomes will include assessment of safety and efficacy by viewing standardized digital photographs and according to the physician, the patient or proxy; impact on quality of life; and evolution of biological makers (coagulation factors, vascular endothelial growth factor, tissue factor). Discussion The main benefit of the study will be to resolve uncertainty concerning the efficacy of sirolimus in reducing the volume of VMs and limiting related complications and the safety of the drug in children with slow-flow VMs. This trial design is interesting in these rare conditions because all included patients will have the opportunity to receive the drug and the physician can maintain it after the end of the protocol if is found efficient (which would not be the case in a classical cross-over study). Trial registration ClinicalTrials.gov Identifier: NCT02509468, first received: 28 July 2015. EU Clinical Trials Register EudraCT Number: 2015-001096-43.

Abstract Background Vena cava anomalies are a rare group of anatomical variations due to an incorrect development of the superior or inferior vena cava during fetal life. They generally show no clinical relevance and the diagnosis is done due to the association with congenital heart diseases in most of cases. However, preoperative identification of these anomalies is mandatory for surgeons to proper surgical planning. If not recognized, lethal complications may occur, as already reported in literature. Case presentation We report a case series of three different unidentified vena cava anomalies in patients undergoing lung resection. These unrecognized anomalies led to minor complications in two cases and required an accurate intraoperative evaluation in another. A careful retrospective evaluation of preoperative radiological images showed the anomalies. Conclusions A careful evaluation of the vena cava anatomy at pre-operative imaging is mandatory for thoracic surgeons to properly plan the surgery and avoid complications.

Aim: Vascular anomalies, lesions of abnormal vascular development pose a significant challenge in some of the cases for diagnosis and management. The International Society for the Study of Vascular Anomalies has classified this condition into two broad types as vasoproliferative or vascular neoplasms such as hemangioma and vascular malformation. We have analyzed all the cases with vascular anomalies that have presented in outpatient department (OPD) in the past 5 years. Materials and Methods: All patients presented to vascular OPD of Dhulikhel Hospital in the year 2013–2017, if patients are diagnosed with vascular anomalies, are included in the study. Details on age, sex, site of the lesion, and medical or operative management performed are analyzed. Results: Of the total 51 vascular anomalies cases, the mean age of the patient was 22.4 years (standard division. 8.4, range 6 months to 51 years). Female-to-male ratio was 2.4:1. Forty cases (70.48%) belonged to vascular malformation while 11 cases (21.56%) were of hemangioma. In case of vascular malformation, 18 cases were of venous malformation while 8 cases were of capillary malformation. There were a total of 14 arteriovenous malformations. The highest number of anomalies was noticed in the lower limb (39.22%) followed by the head (25.49%). Regarding treatment modality opted, in five cases, medical management with oral steroids and propranolol was advised. In 35 cases, surgical resection was done. Conclusion: Vascular anomalies are detected in fairly young patients with preponderance in the female. Treatment of vascular anomalies is complex and is based on stage, type, and location of each anomaly.

Background: Arteriovenous malformations (AVMs) are rare, congenital vascular anomalies. Intraosseous AVMS most frequently arise in the head and neck, with only a small fraction occurring in the extremities. Herein, we report the findings of a combined soft tissue and intraosseous AVM involving the lower extremity of a 13-year-old child. This case highlights the necessity of an interdisciplinary approach for the effective treatment and management of these rare vascular anomalies. Case Description: A 13-year-old female presented with a 4-year history of intermittent pain and swelling over her right lateral malleolus. The patient was evaluated with radiologic imaging revealing an AVM involving the right distal leg, ankle, and hindfoot with intraosseous involvement of the distal tibia and talus. She was then referred to Vascular and Plastic Surgery and an angiogram was performed demonstrating shunting from the anterior tibial, peroneal, and posterior tibial arteries to the AVM. Venous drainage was to the anterior tibial and greater saphenous veins. Three embolizations were performed over the course of 6 months. Following the third embolization, the patient was taken to the operating room where Plastic and Orthopedic Surgery performed total resection of the nidus and involved bone which was then grafted with injectable synthetic bone graft. Results: Successful resection of the nidus was achieved, and the patient had an uncomplicated recovery. Within 6 months postoperatively, the patient demonstrated full range of lower extremity motion and was able to participate in age appropriate gross motor activities. Radiologic evaluation 7 months postoperatively showed no evidence of nidus recurrence. Conclusion: Intraosseous involvement of AVMS is rare and presents a therapeutic challenge due to its invasive potential and high incidence of recurrence. Wide local excision with bone grafting and interdisciplinary management are paramount for complete resection. [ABSTRACT FROM AUTHOR]

Vascular malformations (Vascular Malformation) of soft tissue are a consequence of abnormal development of vascular elements during embryogenesis. They are named after the vessel responsible. Their presence at birth raises the hypothesis of an intrauterine etiology of Vascular Malformation, but the influence of other factors may play an important role in their appearance, localization, and size. The literature suggests that treatment of Vascular Malformation is rarely surgical. Surgery is applied in cases of voluminous malformations and in cases of possible hemorrhagic complications. Meanwhile, patient outcomes have improved with new discoveries in laser technology for the treatment of Vascular Malformation, especially those of capillaries and the results are, in most of the cases, quite satisfactory and without significant complications. After institutional review board approval, we collected and analyzed the medical records of 90 patients diagnosed with Vascular Malformation, between January 2015 and December 2019 at the service of Burns and Plastic Surgery, "Mother Teresa" University Hospital Center of Tirana, Albania and from another private clinic in Tirana. Data were collected from the medical records on patient's charts. The aim of this study is to analyze different treatment modalities and the outcomes achieved for each group. [ABSTRACT FROM AUTHOR]

Vascular anomalies represent a diverse group of tumors and malformations. Those involving the colon and rectum can greatly impact patients' quality of life. Proper workup to ensure the correct diagnosis can vary and may include endoscopic and radiographic studies. These lesions can also be challenging to treat and often require a multidisciplinary approach to ensure the best possible outcome. Treatment can include medical therapy, sclerotherapy, endoscopic, and operative intervention. Many patients will require multimodal therapy. We discuss the workup and management of vascular lesions of the colon and rectum. [ABSTRACT FROM AUTHOR]