Vascular anomalies

INTRODUCTION: Mutations of the phosphatase and tensin homolog (PTEN) gene have been associated with a spectrum of disorders called PTEN hamartoma tumor syndrome, which predisposes the individual to develop various types of tumors and vascular anomalies. Its phenotypic spectrum includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), Proteus syndrome, autism spectrum disorders (ASD), some sporadic cancers, Lhermitte-Duclos disease (LDD), and various types of associated vascular anomalies...

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...

BACKGROUND: Macular edema (ME) results from hyperpermeability of retinal vessels, leading to chronic extravasation of plasma components into the retina and hence potentially severe visual acuity loss. Current standard of care consists in using intravitreal injections (IVI), which results in a significant medical and economic burden. During diabetic retinopathy (DR) or retinal vein occlusion (RVO), it has recently been shown that focal vascular anomalies (capillary macro-aneurysms, also termed TelCaps) for telangiectatic capillaries may play a central role in the onset, early recurrence, and/or persistence of ME...

Endovascular treatment of complex vascular anomalies shifts the risk of open surgical procedures to the benefit of minimally invasive endovascular procedural solutions. Complex open surgical procedures used to be the only option for the treatment of a myriad of conditions like pulmonary and aortic valve replacement as well as cerebral aneurysm repair. However, due to advancements in catheter-delivered devices and operator expertise, these procedures (along with many others) can now be performed through minimally invasive procedures delivered through a central or peripheral vein or artery...

BACKGROUND: PTEN-related hamartoma tumor syndrome results from a mutation in the PTEN gene located at 10q23.31. This syndrome represents a spectrum of different phenotypes of variable expressions, now recognized as part of the same condition. Patients with this mutation have an increased risk of developing a wide range of findings, including malignancies. Although widely described in adults, there are no large series describing the imaging findings in patients before adulthood. Knowledge of the findings seen in children and adolescents with PTEN-related hamartoma tumor syndrome can help guide further management and improve surveillance recommendations...

Brain Arteriovenous Malformations (bAVMs) are rare but high-risk developmental anomalies of the vascular system. Microsurgery through craniotomy is believed to be the mainstay standard treatment for many grades of bAVMs. However, a significant challenge emerges in the existing body of clinical studies on open surgery for bAVMs: the lack of reproducibility and comparability. This study aims to assess the quality of studies reporting clinical and surgical outcomes for bAVMs treated by open surgery and develop a reporting guideline checklist focusing on essential elements to ensure comparability and reproducibility...

OBJECTIVE: The objective was to describe the successful thoracoscopic treatment of esophageal entrapment resulting from a vascular ring anomaly (VRA) comprising a persistent right aortic arch (PRAA) and left ligamentum arteriosum (LA) in a Babydoll sheep wether. STUDY DESIGN: Case report. ANIMAL: Eight month old Babydoll sheep wether, 13 kg. METHODS: The patient presented with a weight half that of its sibling, persistent regurgitation following eating, and delayed growth noted from the age of approximately 2 months, coinciding with the introduction of solid feed into the diet...

Craniomaxillofacial vascular anomalies encompass a diverse and complex set of pathologies that may have a profound impact on pediatric patients. They are subdivided into vascular tumors and vascular malformations depending on biological properties, clinical course, and distribution patterns. Given the complexity and potential for leading to significant functional morbidity and esthetic concerns, a multidisciplinary approach is generally necessary to optimize patient outcomes. This article reviews the etiology, clinical course, diagnosis, and current management practices related to vascular anomalies in the head and neck...

There are many reports on the positional relationship between the ileocolic artery and superior mesenteric vein (SMV). However, there have been no reports of anomalous venous confluence in the ileocecal vessel area. A 69-year-old man was diagnosed with cecal cancer on a preoperative examination of a lung tumor. We planned to perform surgery for the cecal cancer. Computed tomography angiography revealed an anomalous vein confluence in the ileocolic region. We performed robot-assisted ileocecal resection. Although the small intestinal vein was misidentified as the SMV at first, we confirmed the misidentification, identified the SMV on the dorsal side of the ileocolic artery, and ligated the ileocolic vessels with precise forceps manipulation during robotic surgery...

PURPOSE: To report a rare clinical finding of preretinal granules associated with atypical familial exudative vitreoretinopathy (FEVR) and perform a review of the literature. OBSERVATIONS: An asymptomatic 18-year-old male was referred for unilateral peripheral avascular retina evaluation in association with presumed FEVR. He was first noted to have white preretinal granules on fundus examination at five years of age. The lesions remained unchanged over the subsequent years...

Elephantiasis nostras verrucosa (ENV) is a rare complication of chronic lymphedema, leading to progressive cutaneous hypertrophy and disfigured lower extremities. We present an unusual case of a 79-year-old man with ENV, who had an episode of erysipelas treated and cured with antibiotics. The patient presented with progressive painless lymphedema of the lower limb years ago, complicated with skin changes. The biology and radiology test does not objective any causes. The compression therapy was proposed to the patient...

BACKGROUND: Huntington's disease (HD) is marked by a CAG-repeat expansion in the huntingtin gene that causes neuronal dysfunction and loss, affecting mainly the striatum and the cortex. Alterations in the neurovascular coupling system have been shown to lead to dysregulated energy supply to brain regions in several neurological diseases, including HD, which could potentially trigger the process of neurodegeneration. In particular, it has been observed in cross-sectional human HD studies that vascular alterations are associated to impaired cerebral blood flow (CBF)...

BACKGROUND: Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, spinal/skeletal anomalies, and/or scoliosis (CLOVES) syndrome is the most recently described combined vascular anomaly characterized by congenital excessive growth of adipose tissue, vascular malformations, epidermal nevi, and skeletal deformities. This condition exhibits a significant variability in clinical manifestations and a tendency for rapid progression and affects extensive anatomical regions...

BACKGROUND: Complete mesocolic excision (CME) and central vascular detachment are very important procedures in surgery for colorectal cancer. Preoperative and intraoperative assessments of the anatomy of major colorectal vessels are necessary to avoid massive bleeding, especially in endoscopic surgery. A case with a rare anomaly in which the middle colic artery (MCA) and ileocolic artery (ICA) had a common trunk is reported. CASE PRESENTATION: The patient was a 73-year-old woman diagnosed with ascending colon cancer on colonoscopy...

Capillary malformation (CM), or port wine birthmark, is a cutaneous congenital vascular anomaly that occurs in 0.1%-2% of newborns. Patients with a CM localized on the forehead have an increased risk of developing a neurocutaneous disorder called encephalotrigeminal angiomatosis or Sturge-Weber syndrome (SWS), with complications including seizure, developmental delay, glaucoma, and vision loss. In 2013, a groundbreaking study revealed causative activating somatic mutations in the gene (GNAQ) encoding guanine nucleotide-binding protein Q subunit α (Gαq) in CM and SWS patient tissues...

BACKGROUND: We report a case of isolated ductal origin of pulmonary artery (DOPA) diagnosed in an asymptomatic newborn. The primary aim of this case is to highlight the need to investigate for DOPA in patients diagnosed with an 'absent branch pulmonary artery'. CASE SUMMARY: Our patient was an asymptomatic newborn infant, with normal intracardiac anatomy. He was initially diagnosed post-natally with 'absent left pulmonary artery' (LPA), though the LPA was seen in antenatal scans...

AIMS: The aim of the study was to perform a detailed analysis of the clinical characteristics of megameatus with intact prepuce (MIP) and to audit our results of reconstructive surgeries on MIP. MATERIALS AND METHODS: Design: Retrospective analysis. Setting: Pediatric surgery department of tertiary level. Subjects, methods: Hospital records and pictures of MIP operated over a 9-year period. Age, size of penis, circumcised or not, shape of glans, external urethral meatus (EUM), urethral plate (UP), chordee, distal urethra, reconstructive surgery, and complications were analyzed...

BACKGROUND: Sporadic intracranial vascular malformations can pose significant risk to parturients, and additional reports of management may inform patient care. Here we describe the peripartum management of parturients with intracranial vascular malformations. METHODS: After Institutional Review Board approval, we performed a retrospective analysis of parturients with a known sporadic intracranial vascular malformation including cavernous malformation, developmental venous anomaly, or arteriovenous malformation who delivered at our institution between 2007 and 2020...

OBJECTIVE: Chiari malformation type I (CM-I) is a congenital disorder occurring in 0.1% of the population. In symptomatic cases, surgery with posterior fossa decompression (PFD) is the treatment of choice. Surgery is, however, associated with peri- and postoperative complications that may require readmission or renewed surgical intervention. Given the associated financial costs and the impact on patients' well-being, there is a need for predictive tools that can assess the likelihood of such adverse events...

Situs inversus totalis is a rare congenital malformation in which organs are positioned in a mirror-image relationship to normal conditions. It often presents with vascular and biliary malformations. Only a few reports have pointed out the surgical difficulties in patients with situs inversus totalis, especially in those with perihilar cholangiocarcinoma. This report describes a 66-year-old male patient who underwent left hemihepatectomy (S5, 6, 7, and 8) with combined resection of the caudate lobe (S1), extrahepatic bile duct, and regional lymph nodes for perihilar cholangiocarcinoma with situs inversus totalis...