Vascular Malformations In Children Research Articles

Congenital Vascular Malformations in Children: From Historical Perspective to a Multidisciplinary Approach in the Modern Era-A Comprehensive Review.

Congenital vascular malformations (CVMs) are the result of an aberrant development during embryogenesis. Although these lesions are present at birth, they are not always visible yet. Once symptomatic, patients suffer from pain, bleeding, ulcers, infections or lymphatic leakage, depending on the subtype of vessels involved. Treatment includes conservative management, surgery, sclerotherapy, embolization and pharmacological therapy. The clinical presentation varies widely and treatment can be challenging due to the rarity of the disease and potential difficulties of treatment. This review gives an overview of the historical developments in diagnosis and classification and exposes the key elements of innovations in the past decades on the identification of genetic mutations and personalized treatment. These advances in the field and a multidisciplinary approach are highly valuable in the optimization of clinical care aimed at both curing or stabilizing the CVM and pursuing physical and psychosocial wellbeing.

Congenital Intracranial Vascular Malformations in Children : Radiological Overview.

Prompt medical attention is crucial for congenital intracranial vascular malformations in children and newborns due to potential severe outcomes. Imaging is pivotal for accurate identification, given the diverse risks and treatment strategies. This article aims to enhance the identification and understanding of congenital intracranial vascular abnormalities including arteriovenous malformation, arteriovenous fistula, cavernous malformation, capillary telangiectasia, developmental venous anomaly, and sinus pericranii in pediatric patients.

Reply to Eker et al. Comment on “Kilian et al. Comparing Characteristics and Treatment of Brain Vascular Malformations in Children and Adults with HHT. J. Clin. Med. 2023, 12, 2704”

We are grateful to Eker et al. for their thoughtful analysis and response to our publication titled Comparing Characteristics and Treatment of Brain Vascular Malformations in Children and Adults with HHT [...]

Baseline Quality of Life in Low-Flow Head and Neck Vascular Malformations in Children

Objective: To determine baseline quality of life characteristics in patients with low-flow head and neck vascular malformations. Study Design: Retrospective review of prospectively collected data. Setting: Tertiary Pediatric Hospital. Methods: Patients with low-flow head and neck vascular malformations (age 0–18 years) evaluated through our vascular anomalies clinic from 2016 to 2019 were reviewed. Patients with completed PedsQL surveys using parent-proxy reports for children 2–7 years old and both patient and parent-proxy data for patients ≥8 years old were included. Results: In total 94 consecutive patients were included, with a mean age of 9.2 ± 4.7 years. Diagnoses included lymphatic malformations (n = 50), venous malformations (n = 41), and combined venolymphatic malformations (n = 3). Total parental quality of life scores were lower than their children’s (84.23 vs 87.45; P = .037), with lower emotional scores as age at presentation increased (d = −0.60; P < .01). Lower parental scores were also noted across multiple domains for submandibular/sublingual, oropharyngeal, hypopharyngeal, and orbital involvement. (g = −0.68 to −1.10; P < .05). Increasing subsite number involvement affected parents and children similarly (−0.30 vs −0.35; P ≤ .02). Higher physical function scores were noted in venous versus lymphatic malformations (d =−1.07; P = .01). The child-reported school function scores were lower in African-American versus Caucasian children (P = .04). Prior treatment was associated with lower parental scores (d = 0.59; P = .04). Conclusion: The parent and patient’s quality of life is reduced across multiple domains for low-flow head and neck vascular malformations based on age, lesion location and type, disease burden, race, and prior treatment.

Comment on Kilian et al. Comparing Characteristics and Treatment of Brain Vascular Malformations in Children and Adults with HHT. J. Clin. Med. 2023, 12, 2704.

We read with interest the recent article by Killian et al. regarding the characteristics and treatment of brain vascular malformations (VMs) in children and adults with hereditary hemorrhagic telangiectasia (HHT) [...].

Comparing Characteristics and Treatment of Brain Vascular Malformations in Children and Adults with HHT.

Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disease characterized by the development of vascular malformations (VMs) in organs such as the brain and lungs, as well as telangiectases on mucosal surfaces. Prophylactic treatment of organ VMs may prevent potential complications, such as hemorrhage. However, brain VM treatment-surgical resection, embolization, and/or radiosurgery-is not recommended for all patients due to the associated risks. Given the scarcity of data regarding HHT-related brain VM presentation and treatment trends in pediatric patients, we aim to describe the clinical presentations and the patterns of treatment of HHT-related brain VMs in a pediatric cohort, and compare pediatric trends to those of adults. Demographic and clinical data were analyzed in 114 pediatric patients with HHT-related brain VMs and compared with a cohort of 253 adult patients enrolled in the multicenter Brain Vascular Malformation Consortium HHT Project. Our data demonstrated that a higher proportion of pediatric patients with HHT-related brain VMs were symptomatic at presentation (p = 0.004). Moreover, a higher proportion of pediatric patients presented with intracranial hemorrhage (p < 0.001) and seizure (p = 0.002) compared to adult patients. Surgical resection was the most common brain VM treatment modality in both children and adults. We conclude that pediatric patients may be more likely to present with symptoms and complications from brain VMs, supporting the case for screening for brain VMs in children with HHT.

Lymphatic-Venous Malformation Presenting as a Mediastinal Mass in a 6-Year-Old Boy

Among the slow-flow vascular malformations in children, lymphatic malformation (LM; formerly known as lymphangioma) typically develops in the neck (75‒90%), with the posterior triangle being the most commonly affected site (1,2). Ninety percent of the entity is detected in children younger than 2 years (2). LM tends to behave like lymphatic-venous malformation (LVM; formerly, lymphangiohemangioma), but these two entities are clinically indistinguishable (3,4). This article describes a rare case of LVM, presenting as a new-onset, cervical mass extending to the mediastinum in a school-aged boy, that is, an unusual location and age for the malformation.

Vulvar Vascular Malformations in Children and Adolescents-A Report of a Rare Entity and Review of the Literature.

Vulvar Vascular Malformations in Children and Adolescents-A Report of a Rare Entity and Review of the Literature.

Coil-Localized Laparoscopic-Assisted Resection of Symptomatic Gastrointestinal Vascular Malformations in Children and Young Adults.

To describe a technique of intentional preoperative coil localization of symptomatic pediatric GI vascular malformations by pediatric interventional radiology to facilitate fluoroscopically assisted laparoscopic resection. We searched the electronic privacy information center and picture archive and communication system in our center and found 3 cases. The electronic privacy information center and picture archive and communication system databases were the sources for retrieval of demographic, medical, radiological, and procedural information in all 3 cases. After many nondiagnostic investigations in all 3 patients, a GI vascular malformation as a cause of GI bleeding was diagnosed with computed tomography angiography/magnetic resonance angiography and catheter angiography. A preoperative 0.018-inch Hilal coil was placed as close as possible to the vascular malformation during super selective angiography. Laparoscopic surgery was performed within 24 hours of coil placement. In all cases, histology confirmed the resected bowel lesions to be vascular malformations. Intentional endovascular coil localization has the potential to increase the precision of lesion localization and may reduce laparoscopic operative time, when guided by the coil position.

Clinical course of pediatric large vascular anomalies located in the extremities.

Difficulties encountered in the diagnosis and treatment of vascular anomalies located in the extremities of the children. The most common vascular lesions are hemangiomas and venous malformations. The complex malformations, such as, Klippel-Trenaunay Syndrome are much less commonly encountered lesions. Treatment of vascular malformations are variable based on the etiology of the lesion and clinical presentation. In this study, we aimed to share our experience on the clinical features of vascular lesions in the extremities of the children. The demographic, clinical and prognostic features of 330 children with vascular anomalies followed at IUC, Cerrahpasa Medical Faculty, Department of Pediatric Hematology and Oncology were retrospectively reviewed. Fifty-one patients with lesions >5 cm in diameter were included into the study. The diagnosis, age, sex, history of prematurity, lesion type and location, imaging and biopsy findings, complications, details of treatment, and follow-up were evaluated. Twenty-nine (57%) of patients were female and 22 (43%) were male. The female to male ratio was 1.3:1. The median age at admission was 15 months (10 days-180 months). Eight patients (16%) had a history of premature birth. Thirty-one patients (61%) had lesions since birth, eight lesions (8%) appeared in the first month of life and 6 (12%) occurred after 1 year of age. Sixteen of the patients (31%) had hemangioma, 11 (22%) had lymphangioma, 19 (37%) had venous malformation and 5 (10%) were diagnosed as Klippel Trenaunay Syndrome. The lesions were in the upper extremity in 21 patients (41%), in the lower extremity in 27 patients (53%), and both lower and upper extremities were affected in 3 patients (6%). Of all patients, six had intramuscular and two had intraarticular lesions. The diagnosis was made on clinical grounds in most of the cases. In 22 children Magnetic Resonance Imaging was performed for differential diagnosis and to demonstrate the infrastructure of the lesion and the extent of local infiltration. Histopathologic examination by biopsy was done in four patients. Complications developed in 19 patients as follows: Disseminated intravascular coagulation in 6, bleeding in 4, thrombosis in 3, and soft tissue infection in 6. Twenty-one patients were not given any treatment. Medical treatments were propranolol in 14 patients, sirolimus in 4 patients, propranolol and sirolimus in 5 patients. Intralesional bleomycin injection was performed in 3 children. The diagnosis, classification and treatment of extremity located vascular malformations in children are complex. Treatment strategy should be defined as in accordance with a combination of the type of the vascular malformation, the age of the patient and the clinical picture.

Effects of sirolimus in the treatment of unresectable infantile hemangioma and vascular malformations in children: A single-center experience

ObjectiveRecently, sirolimus has emerged as a safe and effective treatment modality for unresectable vascular lesions. In the present study, we investigated the effectiveness and safety of sirolimus from our early experience with patients with unresectable vascular anomalies. MethodsThe medical records and radiologic images of all patients with unresectable vascular anomalies treated with sirolimus at our center from January 2018 to November 2019 were retrospectively reviewed. All patients were administered oral doses of sirolimus 0.8 mg/m2 every 12 hours as the initial dose, followed by maintenance of a target serum concentration (5-10 ng/mL) with therapeutic drug monitoring. ResultsSix patients with unresectable vascular anomalies were treated with sirolimus for ≥10 months. Their median age at the initiation of sirolimus treatment was 17 months (range, 8-67 months). The median duration of treatment was 13 months (range, 10-16 months). One patient had a good response, four had an intermediate response, and one had no response to sirolimus therapy. None of the patients had discontinued sirolimus therapy because of adverse effects. ConclusionsSirolimus can be used effectively and safely for patients with unresectable vascular anomalies. However, further prospective studies are warranted to evaluate the long-term effects of sirolimus and clarify the indications for early intervention.

Інфантильна гемангіома

Infantile hemangioma is one of the most common benign vascular malformations in children. Besides that, some questions about classification, diagnostic, and choice of method of treatment remains the questionable. The modern data about classification, clinical course, diagnostic, and main principles of treatment of infantile hemangioma are presented in this work. In most cases, the uncomplicated clinical course of infantile hemangioma was observed. However, in some patients the complications may arise. Ulceration, obstruction, functional impairment, and disfigurement are the most often complications of infantile hemangioma. Although, most infantile hemangiomas tend to regress spontaneously, some of them required the treatment. Applying of the β-blockers (systemic or topical), laser therapy, and surgery are the main methods that used for the treatment of infantile hemangiomas. Patients with infantile hemangiomas, despite the simplicity of diagnostic, should be treated on specialized centers. Early detection of at-risk infantile haemangioma is a major point, requiring an increased awareness by paediatricians, with the aim to prevent the complications development. However, it was proven the efficacy of propranolol treatment for the all types of infantile hemangiomas, the long-term follow-up studies are needed to assess its safety with regard to neurodevelopment. No conflict of interest was declared by the authors. Key words: infantile hemangioma, diagnostic, treatment.

Інгібітори mTOR-рецепторів у комплексному лікуванні судинних мальформацій високого ризику у дітей

Інгібітори mTOR-рецепторів у комплексному лікуванні судинних мальформацій високого ризику у дітей

Endovascular treatment of intracranial vascular malformations in children.

Paediatric intracranial vascular malformations are rare and different from adult ones in vascular anatomy, pathophysiology, and symptoms. Their impact on the brain and their symptoms will differ in the antenatal period, in neonates, infants, and children. Clinical presentation includes seizures, focal neurological deficit, haemorrhage, congestive heart failure, hydrovenous disorder, and developmental delays. These malformations are thus associated with a poor prognosis if left untreated. Therefore, aggressive management is generally recommended and must be performed by a multidisciplinary team with extensive experience. Endovascular treatment is the first-choice treatment for most paediatric intracranial vascular malformations. Indication and timing for treatment should be decided on the basis of a careful assessment of neurological symptoms, growth and development, cardiac and other systemic manifestations, and imaging of the malformation and the brain tissue. WHAT THIS PAPER ADDS: Paediatric intracranial vascular malformations are rare, but their prognosis is poor if left untreated. Improved clinical, anatomical, and pathophysiological understanding of these complex lesions has improved prognosis.

Necessity and feasibility of limb length discrepancy correction in congenital vascular malformations in children

Necessity and feasibility of limb length discrepancy correction in congenital vascular malformations in children

Safety and efficacy of foam sclerotherapy for treatment of low-flow vascular malformations in children

ObjectiveCongenital vascular malformations are a heterogeneous group of lesions with the potential to cause significant lifelong morbidity in children. Diagnosis and treatment of these lesions may be complex and require a multidisciplinary approach. Sclerotherapy is widely used for the treatment of low-flow vascular malformations (LFVMs) as an alternative to surgical resection in adults; however, limited data of its use in a pediatric setting are available. The purpose of this study was to evaluate the efficacy and safety of sclerotherapy for pediatric LFVMs. MethodsIn this retrospective study, we reviewed our multidisciplinary vascular malformations team database for all patients younger than 18 years treated for congenital vascular malformations from 2008 to 2017. Of these, patients with LFVM treated with foam sclerotherapy were included. Dynamic contrast-enhanced magnetic resonance imaging was used to select patients for sclerotherapy by the multidisciplinary team. Foam sclerotherapy was performed with either polidocanol or sodium tetradecyl sulfate. Patients' characteristics, including demographics, presenting symptoms, and anatomic location of malformation, were assessed. Outcomes included treatment response, number of procedures, and postprocedural complications. ResultsThe 61 patients with 61 LFVMs included 27 boys (44.3%) and 34 girls (55.7%), with mean age of 10.3 years (standard deviation, ± 5.3 years). The cohort included 32 venous (52.5%), 16 lymphatic (26.2%), and 8 mixed venous and lymphatic (13.1%) malformations along with 5 (8.2%) associated with Klippel-Trénaunay syndrome. Primary indications for intervention included pain and swelling (n = 12 [19.6%]), pain alone (n = 23 [37.7%]), swelling alone (n = 15 [24.6%]), functional impairment (n = 8 [13.1%]), and bleeding (n = 3 [4.9%]). Anatomic distributions varied, with 13 head and neck (21.3%), 5 truncal (8.2%), 10 upper extremity (16.4%), 27 lower extremity (44.3%), and 6 diffuse (9.8%). Among the head and neck lesions, 8 (13.1%) extended to the face; and of the extremity lesions, 5 (8.2%) extended to the hand and 17 (27.9%) to the foot. Overall, sclerotherapy resulted in significant improvement or complete resolution of symptoms in 53 patients (86.9%). Complications were observed in seven patients (11.4%); six cases (9.8%) of superficial skin ulceration resolved without intervention, and one infection (1.6%) required antibiotics. No patients experienced adverse hemodynamic consequences or venous thromboembolism. ConclusionsThis series of pediatric LFVMs, the largest of its kind to date, demonstrates that sclerotherapy with foam-based agents effectively reduces symptoms with an acceptable rate of complications. Further study is needed to determine the optimal sclerosing agents for individual subsets of LFVMs in the pediatric population.

High-Flow Vascular Malformations in Children.

Children can have a variety of intracranial vascular anomalies ranging from small and incidental with no clinical consequences to complex lesions that can cause substantial neurologic deficits, heart failure, or profoundly affect development. In contrast to high-flow lesions with direct arterial-to-venous shunts, low-flow lesions such as cavernous malformations are associated with a lower likelihood of substantial hemorrhage, and a more benign course. Management of vascular anomalies in children has to incorporate an understanding of how treatment strategies may affect the normal development of the central nervous system. In this review, we discuss the etiologies, epidemiology, natural history, and genetic risk factors of three high-flow vascular malformations seen in children: brain arteriovenous malformations, intracranial dural arteriovenous fistulas, and vein of Galen malformations.

Diagnosis and Management of Extracranial Vascular Malformations in Children: Arteriovenous Malformations, Venous Malformations, and Lymphatic Malformations

Abstract Vascular malformations result from congenital abnormalities in vascular morphogenesis most commonly stemming from somatic mutations. This dysregulation results in localized vascular anatomical abnormalities that can result in high-flow vascular malformations (such as arteriovenous malformations) and/or low-flow vascular malformations (such as venous malformations and lymphatic malformations). The severity and types of symptoms patients suffer are highly variable and related to the size and location of the malformation. Pediatric interventional radiologists often play a primary role in diagnosis and management of these lesions. Thus, having a firm grasp on the clinical presentation, diagnostic work-up, therapeutic management, cellular physiology, and pharmacologic mechanism of action of sclerosants/embolics is essential. This review focuses on the interventional radiologist's role in the diagnosis and management of extra-cranial congenital vascular malformations.

Updated classification and therapy of vascular malformations in pediatric patients.

Vascular malformations (VMs) comprise a diverse group of diagnoses. They are classified by the type of vessel involved, including capillaries, veins, arteries, lymphatic vessels, or combinations of these. Complex VMs, although benign, can impair vital structures, cause deformations, or even threaten the child's life. Although multimodal treatment of VMs in children with disease include a wide variety of options such as observation, laser therapy, sclerotherapy, surgical resection, radiofrequency ablation, and medical therapy, the management of VMs necessitates a multifocal and multidisciplinary method with the patient's quality of life as the priority.

Utility and tolerability of the long-pulsed 1064-nm neodymium:yttrium-aluminum-garnet (LP Nd:YAG) laser for treatment of symptomatic or disfiguring vascular malformations in children and adolescents

Vascular malformations manifest with pain, bleeding, disability, and disfigurement in a subset of children. There are scant data available on the utility and tolerability of laser surgery for symptomatic or disfiguring non-port-wine stain vascular malformations in children. The objective of this study was to determine the utility and tolerability of the 1064-nm long-pulsed neodymium:yttrium-aluminum-garnet (LP Nd:YAG) laser for treatment of symptomatic or disfiguring vascular malformations in children. We conducted a retrospective review of 29 pediatric patients with non-port-wine stain vascular malformations who were treated with the LP Nd:YAG laser at our institution. We report patient characteristics, treatment parameters, outcomes, and complications. Blinded assessment of clinical efficacy revealed good to excellent results in 66.7% of patients treated and poor to fair results in 25%. The overall rate of complications was 27%, with minor skin breakdown and blistering being the most common. Our conclusions are limited by small sample size, pretreatment and posttreatment photographs in only a subset of patients, and lack of long-term follow-up. The LP Nd:YAG laser is a well-tolerated and effective treatment modality for a variety of non-port-wine stain vascular malformations in children.