Persistant Left Superior Vena Cava with and Without Right Superior Vena Cava: Significance of Prenatal Diagnosis.

This study aims to define the associated anomalies with PLSVC, and to compare single PLSVC and bilateral superior vena cava in terms of accompanying anomalies and pregnancy outcomes. This was a retrospective study of the fetuses diagnosed with single and/or bilateral SVC at a tertiary fetal medicine center during 8 years. We detected 16 cases of single PLSVC and 84 cases of bilateral SVC. We found an association between the PLSVC and cardiac and extracardiac anomalies. Comparison between single PLSVC and BSVC cases revealed significant differences in the occurrence of heterotaxy and right isomerism. The study highlights the importance of prenatal diagnosis in PLSVC cases. Isolated PLSVC with situs solitus may be considered a benign finding, but larger studies are needed to understand the clinical implications of PLSVC in relation to chromosomal anomalies. Routine screening protocols should include three-vessel and trachea views to detect PLSVC.

A nationwide cohort study on incidence and mortality associated with extracranial vascular malformations.

Extracranial vascular malformations are abnormal formations of blood vessels located outside the brain (extracranial) that develop during fetal development. They are caused by errors in the formation of blood vessels in the embryo and can affect various parts of the body, such as the head, neck, face, and other regions. Some malformations may be asymptomatic and only require monitoring, while others may cause significant health issues or cosmetic concerns and may need medical intervention. There are very few studies have investigated the nationwide incidence and quantitative mortality of vascular malformations in terms of their subtypes. Thus, this study aimed to determine the nationwide incidence and mortality associated with vascular malformations. This nationwide population-based study evaluated 70,517 patients with vascular malformations from 2008 to 2021. We evaluated the incidence and mortality associated with each subtype of vascular malformation. Furthermore, Cox regression analysis was used to evaluate the association between vascular malformation and mortality. The annual incidence (per 100,000 population) of overall vascular, venous, capillary, arteriovenous, and lymphatic malformations was 9.85, 1.48, 2.31, 0.24, and 5.82 cases, respectively. Patients with vascular malformations, except those with venous malformations, had higher mortality than the matched controls. Moreover, among the vascular malformation subgroups, the adjusted hazard ratio of mortality was the highest for arteriovenous malformations. This study revealed that the overall annual incidence of vascular malformations was 9.85 cases per 100,000 population in Korea from 2008 to 2021. The mortality of the matched general population was lower than that of patients with vascular malformations, except for those with venous malformations. Additionally, the adjusted hazard ratio for mortality associated with arteriovenous malformations was the highest among the vascular malformation subgroups.

Radiological Profile of 18,430 Vascular Anomalies: Incidence and Demographic Distribution in an Adult Population.

BACKGROUND: Most studies on focusing on the prevalence of vascular anomalies are either aimed to determine the individual occurrence of a specific type among known bearers of abnormalities or propose an estimation of prevalence for the general population by extrapolating from the paediatric population. In this scenario, we intended to assess the profile of vascular anomalies in a group of patients subjected to imaging studies, throughout a long period of time, to evaluate the frequency of abnormal findings in a consecutive, nonselected population. METHODS: This is a retrospective review of 996,569 computed tomography and magnetic resonance studies between 2009 and 2019. Findings were grouped as vascular tumours (hemangiomas; vascular tumours), cavernomas, and vascular malformations. Positive findings were evaluated with regard to patients' demographic characteristics and anatomic distribution and the subset of vascular malformations was also evaluated with regard to size, classification in accordance to flow pattern, and Hamburg Classification. RESULTS: Eighteen thousand four hundred thirty positive examinations were evaluated (mean age, 55.82 ± 15.43 years; 8,188 men). Vascular anomalies were present in 18.49 per 1,000 examinations (17.41 hemangiomas; 0.69 cavernomas and 0.39 vascular malformations per 1,000 examinations). Hemangiomas and cavernomas were homogeneous in anatomic location between sexes throughout the age groups. Complex malformations were heterogeneous in anatomic distribution between the sexes in each age group, with intracranial findings decreasing for female patients in older groups. CONCLUSIONS: Vascular anomalies were found in 18.49 per 1,000 examinations. Hemangiomas and cavernomas were homogenously distributed, whereas complex malformations displayed a heterogeneous anatomic distribution pattern between sexes in each age group.

Prevalence and clinical features of orbital vascular anomalies in children.

PURPOSE: To report the prevalence, clinical characteristics, and natural history of orbital vascular anomalies diagnosed among children over a 50-year period. METHODS: The medical records of all patients <19 years diagnosed with any form of an orbital vascular anomaly (OVA) at Mayo Clinic, Rochester, Minnesota from January 1 1966, through December 31 2015, were retrospectively reviewed. RESULTS: A total of 109 children were diagnosed with OVA during the 50-year period, of which 24 were from Olmsted County, MN, yielding a birth prevalence of 1 in 4,305 live births. The median age at diagnosis for the 109 patients was 1.2 years (range, 0-17.9 years) and 67 (61.5%) were female. Common presenting symptoms included proptosis in 80 (73.4%) patients, abnormalities in skin color in 45 (41.3%) patients, and pain in 18 (16.5%) patients. There were 55 (50.5%) vascular malformations [50 (91%) low-flow lymphatic malformations, 3 (5.5%) high-flow arteriovenous malformations, and 2 (3.5%) low-flow venous malformations] and 54 (49.5%) vascular tumors [53 (98%) capillary hemangiomas and 1 (2%) kaposiform hemangioendothelioma]. During a mean follow-up of 5.95 years (range 0-27.7 years), amblyopia and/or strabismus were diagnosed in 46 (43.4%) patients. CONCLUSIONS: Capillary hemangiomas and low-flow lymphatic malformations comprise most of the orbital vascular anomalies in this cohort of children. Amblyopia and strabismus are common sequelae, highlighting the importance of early diagnosis and appropriate management.

Vascular Malformations of the Head and Neck in Children.

BACKGROUND/AIM: Vascular malformations are congenital abnormalities that result from disturbances in the embryologic development of the vascular system. A retrospective study at a single institution was performed to determine the localization and treatment patterns for vascular malformations in children. PATIENTS AND METHODS: A total of 198 pediatric patients were identified. Age at diagnosis and presentation, sex, localization, diagnostics, and therapy were described. RESULTS: The most common diagnosis was lymphatic malformation (LM, 58.6%), followed by venous (VM, 31.8%) and arteriovenous malformation (AVM, 4.5%). The mean age at diagnosis was 2.2 years, while the mean age at presentation at our hospital was 7.2 years. The sex ratio showed a female predominance (1.44:1), which was most evident in children with AVM. The neck, cheek/parotid gland and oral cavity were the most predominant locations. Half of the patients required at least one intervention at our hospital. Especially, CM and LM were managed by watch-and wait, whereas lymphovenous malformation (LVM) and AVM were most often treated. Treatment differed between the various malformation types, the most common used treatment was conventional surgery followed by laser therapy. In case of treatment, the average number of procedures in our hospital was 1.58 for VM, 1.53 for LM, 1.33 for AVM, and 1.0 for LVM. CONCLUSION: In children with vascular malformations interventional treatment is often necessary, in many cases more than one treatment step is needed. Correct identification of the malformation type is important for optimal treatment and appropriate care of patients with vascular malformations.

Venous malformations: what do phleboliths tell us in the pediatric population?

PURPOSE: Phleboliths are often observed within Venous malformations (VM) and frequently indicated as cause of morbidity. The aim of this study is to investigate independent risk factors for phleboliths in a pediatric population and to determine if its presence influences clinical management. METHODS: We retrospectively review data from patients diagnosed with VM in a vascular anomalies center during a 5-year period. Associations between phleboliths and potential risk factors were assessed. A multivariable analysis, was performed to assess the influence of phleboliths in the need for surgery. RESULTS: We included 88 patients with a mean age of 10 years. Phleboliths were found in 33.0%. In univariate analysis, there were no significant differences between the two groups regarding age or gender, location, dimension or depth of the VM, pain and laboratory parameters. Multivariable analysis could not detect any independent risk factor for phleboliths. In contrast, multivariable logistic analysis revealed that when phleboliths were present, the need for surgical extirpation was more likely (p = 0.031). CONCLUSIONS: This study showed that patients who have phleboliths within their VM seem to require surgery more frequently. This constitutes an entirely innovative thought that could raise awareness to a lower threshold for surgery in this group of patients.

Prevalence of Inferior Vena Cava Anomalies and Their Significance and Impact in Clinical Practice.

OBJECTIVE: To evaluate the prevalence of inferior vena cava (IVC) anomalies in an asymptomatic healthy population and symptomatic patients. METHODS: This was a multicentre retrospective observational study This study was conducted by reviewing the computed tomography (CT) images of 1 000 individuals from South Korea taken for a general medical check up (group A) and 1 000 patients from the USA who visited with various symptoms for which CT was required (group B). A third group of 800 patients with deep vein thrombosis (DVT) and CT from two US centres were used for comparison (group C). Twenty-eight patients with anatomical changes in the IVC due to intervention, extrinsic compression, trauma, other rare conditions, and poor image quality were excluded. RESULTS: The mean age ± standard deviation of each group was 50 ± 6, 54 ± 11, and 54 ± 15 years in groups A, B, and C, respectively. In group A, duplication was the most common anomaly (10 cases, 1.0%), followed by left sided IVC (four cases, 0.4%), hypoplasia (three cases, 0.3%), and megacava (one case, 0.1%). In group B, the most common IVC anomaly was hypoplasia in six cases (0.6%); duplication in three patients, left sided IVC in three patients, aplasia in two patients, web formation in two patients, and megacava in two patients. In group C, hypoplasia was the most common type (32 cases, 4.0%). The prevalence of hypoplasia in patients younger than 50 years of age was significantly higher compared with older patients (12.7% [14/110] vs. 5.3% [10/190]; p = .027). The risk of hypoplasia or aplasia was significantly higher in patients with DVT (odds ratio [OR] 17.032, 95% confidence interval [CI] 5.243 - 55.321), especially in patients with iliofemoral DVT (OR 34.211, 95% CI 10.323 - 113.378). CONCLUSION: In the normal group, IVC duplication was the most common variation, while hypoplasia was most common in patients with iliofemoral DVT, especially in younger ones.

Various vascular malformations are prevalent in Finnish pseudoxanthoma elasticum (PXE) patients: a national registry study.

BACKGROUND: Pseudoxanthoma elasticum (PXE, OMIM# 264800) is an inborn error of metabolism causing ectopic soft tissue calcification due to low plasma pyrophosphate concentration. We aimed to assess the prevalence of PXE in Finland and to characterize the Finnish PXE population. A nationwide registry search was performed to identify patients with ICD-10 code Q82.84. Information was gathered from available medical records which were requisitioned from hospitals and health centers. Misdiagnosed patients and patients with insufficient records were excluded. RESULTS: The prevalence of PXE in Finland was 1:260,000 with equal sex distribution. Patients with high conventional cardiovascular risk had more visual and vascular complications than patients with low risk. Four patients (19%) had at least one vascular malformation. A high proportion (33%) of ABCC6 genotypes were of the common homozygous c.3421C > T, p.Arg1141Ter variant. Nine other homozygous or compound heterozygous allelic variants were found. CONCLUSIONS: The prevalence of diagnosed PXE appears to be lower in Finland than in estimates from other countries. Decreased visual acuity is the most prevalent complication. We suggest that various vascular malformations may be an unrecognized feature of PXE.

Neurovascular abnormalities in patients with Loeys-Dietz syndrome type III.

The aim of this article is to describe neurovascular findings in patients with Loeys Dietz syndrome type III and their possible clinical impact. Loeys Dietz syndrome type III, caused by pathogenic SMAD3 variants, is an autosomal dominant syndrome characterized by aneurysms and arterial tortuosity in combination with osteoarthritis. Neurovascular abnormalities have been described in other heritable aortic syndromes, however, reliable data in Loeys Dietz syndrome type III is missing. In our tertiary center, all adult patients with confirmed Loeys Dietz syndrome type III are followed in a standardized aorta outpatient clinic including Computed Tomography Angiography (CTA) of the head and neck region at baseline and (tri) yearly during follow-up. We performed an analysis of the neurovascular imaging findings and clinical follow-up. The primary outcome was a combined endpoint of mortality, dissection, cerebral vascular event and intervention. In addition, tortuosity and vascular growth were assessed. In total 26 patients (mean age 38.4 years, 38.5% males) underwent 102 (mean 3.9 (1-8) per patient) neurovascular Computed Tomography Angiography scans between 2010 and 2021. In 84.6% some form of neurovascular abnormality was found. The abnormalities at baseline were aneurysm (26.9%) dissection flap (7.7%), arterial tortuosity (61.5%), arterial coiling (23.1%) and arterial kinking (3.8%). During follow up (mean 8.85 (1-11) years) one patient suffered from sudden death and one patient needed a neuro-radiological intervention. No cerebral bleeding or stroke occurred. In conclusion, neurovascular imaging in Loeys Dietz syndrome type III patients revealed abnormalities such as aneurysm, tortuosity, coiling and kinking in the vast majority of patients, but clinical events were rare. Neurovascular screening and follow up is advised in all Loeys Dietz syndrome type III patients.

Anomalies of Inferior Vena Cava: Implications and Considerations in Retroperitoneal Surgical Procedures.

Anomalies of the inferior vena cava pose a great challenge to surgeons. Although uncommon, these congenital vascular malformations may have significant surgical implications. Awareness of their presence is essential to avoid inadvertent injury and major bleeding during retroperitoneal procedures. An accurate preoperative diagnosis and detailed planning play a crucial role to obtain successful outcomes when confronted with them. Several surgical techniques have been recommended to protect these anomalous venous structures. The aim of this review is to contribute to the knowledge of the most common types of anomalies of inferior vena cava encountered during retroperitoneal procedures. With this purpose, a summary of their anatomy, embryology, incidence, diagnosis and intra-operative management is presented.

Persistent Left Superior Vena Cava: Why is Prenatal Diagnosis Important?

ObjectiveTo investigate fetal anomalies and pregnancy outcomes in pregnancies with persistent left superior vena cava (PLSVC) to provide assistance in prenatal counseling.MethodsCases diagnosed with PLSVC between January 2015 and January 2020 were obtained from the hospital's electronic system and were analyzed retrospectively.ResultsTwenty-seven cases were analyzed. The prevalence of PLSVC among congenital heart diseases (CHD) was 6.9%. Conotruncal anomalies and renal anomalies were the most common accompanying cardiac and extracardiac anomalies, respectively. Chromosomal abnormality was detected in one fetus.In the postpartum period coarctation of aorta (CoA) was found in one fetus.ConclusionsWhen PLSVC is detected during prenatal ultrasonography, fetal anatomy should be carefully examined because of the anomalies that may accompany it. Prenatal genetic counseling should be given especially to cases with additional anomalies. In isolated cases, cardiac anatomy should be evaluated with repeated echocardiography because of the risk of CoA.

Characteristics of mucocutaneous vascular malformations drawn from a decade of a multidisciplinary committee experience.

Vascular malformations (VM) are congenital, benign, and relatively frequent lesions. Scant data have been published about the epidemiology, clinical presentation, and treatment of VM from a dermatologist's perspective. The substantial differences between subtypes, broad range of specialists consulted and confusing nomenclature used over previous years may hamper a correct diagnosis. The main objective of this study is to describe VM epidemiology. As a secondary endpoint we evaluate clinical characteristics, clinical-radiological correlation and treatment approaches. We carried out an observational, descriptive, retrospective study. Cases presented to the multidisciplinary committee of our hospital from 2009 to 2019 were retrieved. Electronic medical records, monthly committee reports and the iconographic archive were reviewed and statistically analyzed. Overall, venous malformations (VeM) are the most frequent VM, followed by capillary malformations (CM), arterioVeM and lymphatic malformations (LM). Considering only patients under 16, CMs are the most frequent ones. Capillary and LMs are larger than venous or arteriovenous. While CMs are usually asymptomatic, symptomatic cases are threefold more frequent in the other subtypes. Decisions on active or conservative management depend on VM size but not location or patient age. CMs are mainly treated with laser therapy; venous with sclerotherapy or surgery; arteriovenous with surgery and lymphatic with surgery or sirolimus. Dermatologists play an important role in VM diagnosis and management. Our 10-year multidisciplinary experience should contribute to the literature and represent a practical resource for clinicians and researchers.

Neonatal Vascular Tumors.

Vascular tumors are a part of the vascular anomalies spectrum. Vascular malformations are congenital vascular lesions, originating from a mesenchymal stem cell defect and distinguished from vascular tumors by their low cell turnover and lack of invasiveness. They tend to grow in proportion to the child. Vascular tumors are proliferative and range from benign proliferation to malignant tumors. The appropriate differential diagnosis is imperative. Infantile hemangioma can be diagnosed clinically and rarely requires therapy; more rare tumors are difficult to diagnose and treat. This review provides an overview of vascular tumors seen in the neonatal period and summarizes treatment options.

Classification of lower extremity venous malformations and risk of knee involvement: A retrospective cohort study.

BACKGROUND: Venous malformation (VM) is the most common vascular anomaly in the lower extremity. VMs can be classified as focal, multifocal, or diffuse types. Intraarticular VM (IA-VM) of the knee portends morbidity. Association of the lower extremity VM type with IA-VM is not well defined. OBJECTIVE: To classify a large cohort of lower extremity, nonsyndromic VMs by type and determine associations with IA-VM. METHODS: Retrospective cohort study. RESULTS: We assessed 156 patients with nonsyndromic, lower extremity VM; 71 (46%) were focal and 85 (54%) were diffuse type VM, and 97 (62%) were IA-VM. Of diffuse VMs, 26 (31%) were Bockenheimer and 59 (69%) were localized subtypes. Pure VM had a significantly elevated risk of IA-VM (relative risk [RR], 2.34; 95% confidence interval [CI], 1.42-3.89). IA-VM was more common in diffuse (73%) versus focal (49%) types. Risk of IA-VM in diffuse type VM was significantly elevated (RR, 1.48; 95% CI, 1.13-1.94). One hundred percent of diffuse Bockenheimer type VM had IA-VM, and this subtype had the highest risk (RR, 1.83; 95% CI, 1.56-2.14) of IA-VM. LIMITATIONS: Retrospective, single-institution study. CONCLUSIONS: Intraarticular involvement of the knee should be considered in all lower extremity VMs. Pure VM and the Bockenheimer diffuse VM subtype had the highest risk of IA-VM.

Morphologic variants of the Cerebral Arterial Circle on computed tomographic angiography (CTA): a large retrospective study.

PURPOSE: To confirm and illustrate the great variability of morphology of the Cerebral Arterial Circle (CAC)-also commonly called "Circle of Willis"-in current clinical Computed Tomography Angiography (CTA) practice. METHODS: Computed Tomographic Angiographic 3D Volume Rendering reconstructions of the CAC performed in a series of 511 patients were retrospectively reviewed and classified following their anatomic configuration. RESULTS: An amount of 27 CAC configurations were listed. Complete and "nearly complete" (1 missing segment) CACs were found in 115 (22.58%) and 157 (28.6%) patients. The posterior arch was much more frequently incomplete (374 patients = 73.18%) than the anterior arch (96 patients = 18.4%). The main cause was a high prevalence of missing posterior communicating arteries (PCoAs). The left or right PCoA were unilaterally lacking in 156 patients (30.53%) and both PCoAs were lacking in 179 patients (35.02%). Cases with 2 and 3 missing segments were observed in 184 (36%) and 44 patients (8.6%). Precarious situations were also identified including 7 cases (1.4%) of complete isolation of the middle cerebral artery (MCA), 11 cases (2.15%) of absence of interhemispheric supply, 205 cases (40.1%) of full separation of the carotid and vertebra-basilar (VB) territories and 44 cases (8.6%) of full separation of the three main arterial axes (both ICAs and VB). The prevalence of Fetal Posterior Cerebral Arteries (FPCA) variants was also reported. A "Full" FPCA was found unilaterally in 48 (9.4%) and bilaterally in 13 (2.54%) of patients. Apart from agenesis and hypoplasia reported in our study, various other variations of the anterior complex of the CAC (ACoA and A2 segments of the ACA) were also noted. CONCLUSION: CTA with 3D Volume Rendering may powerfully assess the numerous variations of the CAC. This assessment is of prime importance for the evaluation of patients presenting with risk factors or in whom neurosurgery, cardiac surgery, interventional radiology or carotid endarterectomy (CEA) are being considered.

Management of vascular malformations in the Oral and maxillofacial region: A systematic review.

OBJECTIVE: The purpose is to determine the comprehensive review and the current concepts on the management of vascular malformation and to evaluate the long term outcomes, recurrence and complication rate. METHODS: This systematic review followed PRISMA guidelines and registered in PROSPERO (CRD42020173735). The PUBMED, EBSCO, SCOPUS and NDH databases were used to perform a comprehensive search of articles published up until July 2020. The database search identified 1719 articles. After an intricate review, 34 studies were estimated for eligibility. RESULTS: A total of 1719 patients with mean age of 27.48 years were treated for vascular malformation in the oral and maxillofacial region. Moderate heterogeneity was observed for the outcome (P = 0.166; 95% CI:1.01-1.46, I2 = 48%). As determined by one-way ANOVA, there was no statistically significant difference between the type of diagnosis and the recurrence (F = 2.313, p = 0.092) and the complication rate (F = 2.112, p = 0.117). CONCLUSION: In accordance with the available scientific literature, this review has highlighted the modalities and advancement in the management of vascular malformations. Complications and recurrence were reported in all types of management. It can be avoided by careful diagnosis, pre-operative assessment and treatment planning.

Incidence of hemorrhagic cerebrovascular disease due to vascular malformations during the COVID-19 national quarantine in Italy.

BACKGROUND: hemorrhagic cerebrovascular disease due to vascular malformations represents an emergency for neurosurgery and neuro-interventional departments. During the COVID-19 pandemic, a dramatic reduction in the number of hospitalizations for acute myocardial infarction or stroke and a larger time interval from symptom onset to first medical contact have been reported. This study aims to verify the hypothesis that there would also have been a reduction of admissions for hemorrhagic cerebrovascular disease during the Italian lockdown. MATERIAL AND METHOD: s A multicenter, observational survey was conducted to collect data on hospital admissions for hemorrhagic cerebrovascular disease due to vascular malformations throughout two-months (March 15th to May 15th); the years 2020 (COVID-19 Italian lockdown), 2019 and 2018 were compared. Cases were identified by ICD-9 codes 430, 431, 432.1, 432.9, 747.81 of each hospital database. The statistical significance of the difference between the event rate of one year versus the others was evaluated using Poisson Means test, assuming a constant population. RESULTS: During the 2020 lockdown, the total number of admissions for hemorrhagic cerebrovascular disease was 92 compared with 116 in 2019 and 95 in 2018. This difference was not significant. GCS upon admission was 3-8 in 44 % of cases in 2020 (41 patients), 39.7 % in 2019 (46 patients) and 28 % in 2018 (27 patients). CONCLUSION: Reduction of admissions for hemorrhagic cerebrovascular disease due to vascular malformations during the COVID-19 lockdown was not confirmed. Nevertheless, some patients reached the emergency rooms only several days after symptoms onset, resulting in a worse clinical condition at admission.

Skin-Related complications of Klippel-Trenaunay Syndrome: a retrospective review of 410 patients.

BACKGROUND: Little is known about skin-related complications in Klippel-Trenaunay syndrome (KTS), a complex vascular anomaly defined by capillary malformation (CM), venous malformation (VM) ± lymphatic malformation (LM) and limb overgrowth. Reported skin-related complications of KTS include ulceration, vascular ectasias (blebs), bleeding and infection. OBJECTIVE: To determine the spectrum, prevalence and predictors of skin-related complications in KTS. METHODS: A retrospective review of 410 patients fulfilling KTS criteria was performed to assess for the presence of skin-related complications. RESULTS: Skin-related complications were present in 45% of patients. Most prevalent were CM-related complications including blebs, bleeding, thickening (25%), cellulitis (22%) and ulceration (21%). Features positively associated with skin-related complications were presence of LM (OR 17.17; P < 0.001), VM on the buttocks/perineum/genitalia (OR 1.92; P = 0.009), CM on the feet (OR 1.77; P = 0.039) and male sex (OR 1.63; P = 0.034). Features negatively associated with skin-related complications were CM on the trunk (OR 0.59; P = 0.029) and tissue hypertrophy of the hands (OR 0.27; P = 0.025). CONCLUSION: Skin-related complications affect nearly half of patients with KTS. Those with lymphatic involvement or malformation presence in the undergarment area or feet are most at risk.