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•During the COVID pandemic a dramatic reduction in the number of hospitalizations for acute myocardial infarction or ischemic stroke has been reported.•During the COVID pandemic a largest time interval from symptom onset to first medical contact have been reported.•Reduction of admissions for hemorrhagic cerebrovascular disease due to vascular malformations during the COVID-19 lockdown was not confirmed.•We recorded a worse clinical condition at admission of patients admitted for hemorrhagic cerebrovascular disease.•A higher percentage of patients with GCS 3-8 upon admission was observed in 2020 (44.6 %), compared with 2019 (39.7 %) and 2018 (28 %). 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. 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. 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). 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.

Objective. To evaluate the safety and efficacy of interventional care in pediatric hemoptysis for anomalous bronchial arteries (BAs) and to identify the potential factors resulting in hemoptysis recurrence. Methods. 20 children complained of hemoptysis were diagnosed with anomalous BAs. All patients received transcatheter plug occlusion in Department of Cardiology, Children’s Hospital of Chongqing Medical University. The safety and efficacy were evaluated according to clinical symptoms and images monitoring of enrolled subjects grouped as recurrence group and nonrecurrence group. The potential factors causing hemoptysis recurrence were reviewed and summarized. Results. No deaths were recorded in a follow-up. Otherwise, hemoptysis recurrence was found in 8 subjects for 14 times, accounting for about 40%. Compared with nonrecurrence group, it indicated a statistical significance in hemoglobin levels (P=0.049), mycoplasma pneumonia particle assays (MP-PA) titers (P=0.030), and number of anomalous BAs (P=0.020). Meanwhile, 50% recurrent scenarios were associated with a respiratory infection by microbiological assessment before transcatheter plug occlusion. The repeat occlusion was applied for unclosed BAs leading to visual recurrent hemoptysis, the average interval time of which was 5.4 ± 3.6 mon. Conclusion. The data from this retrospective study have shown that transcatheter plug occlusion is a relatively safe procedure with a low mortality. The number of abnormal BAs has been identified as a highly significant predictor of recurrence, and the role of MP and other potential factors should be verified in a multicenter, larger sample size, and randomized controlled trial.

Vascular anomalies are malformations or tumors of the blood or lymphatic vasculature and can be life-threatening. Although molecularly targeted therapies can be life-saving, identification of the molecular etiology is often impeded by lack of accessibility to affected tissue samples, mosaicism or insufficient sequencing depth. In a cohort of 356 participants with vascular anomalies, including 104 with primary complex lymphatic anomalies (pCLAs), DNA from CD31+ cells isolated from lymphatic fluid or cell-free DNA from lymphatic fluid or plasma underwent ultra-deep sequencing thereby uncovering pathogenic somatic variants down to a variant allele fraction of 0.15%. A molecular diagnosis, including previously undescribed genetic causes, was obtained in 41% of participants with pCLAs and 72% of participants with other vascular malformations, leading to a new medical therapy for 63% (43/69) of participants and resulting in improvement in 63% (35/55) of participants on therapy. Taken together, these data support the development of liquid biopsy-based diagnostic techniques to identify previously undescribed genotype–phenotype associations and guide medical therapy in individuals with vascular anomalies. Genomic and cell-free DNA sequencing clarify the clinical diagnosis and inform treatment initiation in a cohort of 356 patients with vascular anomalies.

Vascular malformations (VM) are primarily caused by somatic activating pathogenic variants in oncogenes. Targeted pharmacotherapies are emerging but require molecular diagnosis. Since variants are currently only detected in malformation tissue, patients may be ineligible for clinical trials prior to surgery. We hypothesized that cell-free DNA (cfDNA) could provide molecular diagnoses for patients with isolated VM. cfDNA was isolated from plasma or cyst fluid from patients with arteriovenous malformations (AVM), venous malformations (VeM), or lymphatic malformations (LM), and assayed for known pathogenic variants using droplet digital polymerase chain reaction (ddPCR). Cyst fluid cfDNA from an independent cohort of LM patients was prospectively screened for variants using a multiplex ddPCR assay. Variants were detected in plasma cfDNA in patients with AVM (2/8) and VeM (1/3). Variants were detected in cyst fluid cfDNA (7/7) but not plasma (0/26) in LM patients. Prospective testing of cyst fluid cfDNA with multiplex ddPCR identified variants in LM patients who had never undergone surgery (4/5). Variants were detected in plasma from AVM and VeM patients, and in cyst fluid from patients with LM. These data support investigation of cfDNA-based molecular diagnostics for VM patients, which may provide opportunities to initiate targeted pharmacotherapies without prior surgery.

This study aims to retrospectively analyze the clinical data of children diagnosed with vascular malformations associated with limb hypertrophy, treated at the General Surgery department of Liangjiang Branch of the Children’s Hospital Affiliated to Chongqing Medical University. Additionally, it seeks to explore the diagnostic and therapeutic value of endovascular interventions for this condition. This study conducts a retrospective analysis of the medical records of children with vascular malformations accompanied by limb hypertrophy who received treatment in our department. We summarize their medical history characteristics, clinical manifestations, auxiliary examinations, DSA (Digital Subtraction Angiography) results, intraoperative treatment methods, and follow-up data collected at least 1 year post-surgery to evaluate the diagnostic and therapeutic value of these interventions. This study included a total of 19 children, comprising 10 females and 9 males. The average age was 4 years, while the median age was 3 years and 1 month. The primary site of onset was the lower extremities. The disease types predominantly included arteriovenous malformation (AVM), Klippel–Trenaunay syndrome (KTs), and Parkes-Weber syndrome (PWs). All children underwent digital subtraction angiography (DSA) surgery. During the operation, they were categorized into high-flow and low-flow groups based on their blood flow characteristics, and distinct treatment plans were implemented for each group. Postoperative follow-up revealed a significant decrease in limb skin temperature in the high-flow group before and after treatment (t = 9.266, p  = 0.000), while the limb circumference in the low-flow group also decreased significantly (t = 5.701, p  = 0.002). Additionally, differences were observed in the relief of symptoms such as limb limping, skin plaques, pain, and pruritus between the two groups. During the postoperative follow-up period, only one child with AVM experienced recanalization 1 year after the operation and subsequently underwent reoperation. Vascular malformations associated with limb hypertrophy are relatively rare in clinical practice. Therefore, it is essential to enhance our understanding of these conditions to facilitate early diagnosis and treatment. Endovascular interventional therapy offers significant advantages for the diagnosis and treatment of this disease, making it worthy of wider adoption in clinical settings. Furthermore, treatment plans should be tailored to the specific clinical characteristics of each patient.

Background Abernethy malformation (AM) is a rare vascular anomaly characterized by the diversion of splanchnic venous blood directly into the systemic circulation, bypassing the liver. We present the clinical features, diagnostic workup, and follow-up of a 6-day-old Chinese male with type II AM combined with Noonan syndrome (NS). Case presentation The patient was prenatally suspected of having AM based on ultrasonographic findings, which were postnatally confirmed through enhanced computed tomography (CT) and magnetic resonance (MR) imaging. Due to dysmorphic facial features, whole-exome sequencing (WES) was performed, identifying a heterozygous c.848G > A (p. Arg283Gln) variant in the LZTR1 gene (NM_006767.4), consistent with NS. During follow-up, the patient exhibited progressive elevation of liver enzymes and hyperammonemia, prompting laparoscopic portosystemic shunt ligation at six months of age. Postoperatively, the patient demonstrated rapid biochemical normalization and sustained clinical improvement. Conclusions In patients with RASopathies, clinicians should maintain a high index of suspicion for AM and NS. Comprehensive vascular evaluation, particularly imaging screening of the portal venous system, is essential to avoid missed diagnoses and ensure timely intervention, thereby improving patient outcomes. A multidisciplinary approach that integrates genetic testing, advanced imaging, and surgical expertise is essential for optimizing outcomes in these complex cases.

BackgroundPostzygotic activating PIK3CA variants cause several phenotypes within the PIK3CA-related overgrowth spectrum (PROS). Variant strength, mosaicism level, specific tissue involvement and overlapping disorders are responsible for disease heterogeneity. We explored these factors in 150 novel patients and in an expanded cohort of 1007 PIK3CA-mutated patients, analysing our new data with previous literature to give a comprehensive picture.MethodsWe performed ultradeep targeted next-generation sequencing (NGS) on DNA from skin biopsy, buccal swab or blood using a panel including phosphatidylinositol 3-kinase/AKT/mammalian target of rapamycin pathway genes and GNAQ, GNA11, RASA1 and TEK. Additionally, 914 patients previously reported were systematically reviewed.Results93 of our 150 patients had PIK3CA pathogenetic variants. The merged PROS cohort showed that PIK3CA variants span thorough all gene domains, some were exclusively associated with specific PROS phenotypes: weakly activating variants were associated with central nervous system (CNS) involvement, and strongly activating variants with extra-CNS phenotypes. Among the 57 with a wild-type PIK3CA allele, 11 patients with overgrowth and vascular malformations overlapping PROS had variants in GNAQ, GNA11, RASA1 or TEK.ConclusionWe confirm that (1) molecular diagnostic yield increases when multiple tissues are tested and by enriching NGS panels with genes of overlapping ‘vascular’ phenotypes; (2) strongly activating PIK3CA variants are found in affected tissue, rarely in blood: conversely, weakly activating mutations more common in blood; (3) weakly activating variants correlate with CNS involvement, strong variants are more common in cases without; (4) patients with vascular malformations overlapping those of PROS can harbour variants in genes other than PIK3CA.

Background Vascular anomalies caused by somatic (postzygotic) variants are clinically and genetically heterogeneous diseases with overlapping or distinct entities. The genetic knowledge in this field is rapidly growing, and genetic testing is now part of the diagnostic workup alongside the clinical, radiological and histopathological data. Nonetheless, access to genetic testing is still limited, and there is significant heterogeneity across the approaches used by the diagnostic laboratories, with direct consequences on test sensitivity and accuracy. The clinical utility of genetic testing is expected to increase progressively with improved theragnostics, which will be based on information about the efficacy and safety of the emerging drugs and future molecules. The aim of this study was to make recommendations for optimising and guiding the diagnostic genetic testing for somatic variants in patients with vascular malformations. Results Physicians and lab specialists from 11 multidisciplinary European centres for vascular anomalies reviewed the genes identified to date as being involved in non-hereditary vascular malformations, evaluated gene–disease associations, and made recommendations about the technical aspects for identification of low-level mosaicism and variant interpretation. A core list of 24 genes were selected based on the current practices in the participating laboratories, the ISSVA classification and the literature. In total 45 gene–phenotype associations were evaluated: 16 were considered definitive, 16 strong, 3 moderate, 7 limited and 3 with no evidence. Conclusions This work provides a detailed evidence-based view of the gene–disease associations in the field of vascular malformations caused by somatic variants. Knowing both the gene–phenotype relationships and the strength of the associations greatly help laboratories in data interpretation and eventually in the clinical diagnosis. This study reflects the state of knowledge as of mid-2023 and will be regularly updated on the VASCERN-VASCA website (VASCERN-VASCA, https://vascern.eu/groupe/vascular-anomalies/ ).

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. A total of 198 pediatric patients were identified. Age at diagnosis and presentation, sex, localization, diagnostics, and therapy were described. 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. 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.

The aim of this article is to comprehensively review the multimodal imaging (MMI) features that define perifoveal vascular anomalous complex (PVAC) and to update the optimal treatment strategies for this disorder with a focus also on the underlying pathogenetic mechanisms. This systematic review was performed based on a search of the PubMed and Embase databases of relevant papers on the subject of PVAC. PVAC is characterized by well-defined MMI findings, including remarkable morphological features with optical coherence tomography (OCT) and OCT angiography (OCTA). The recognition of this lesion is important because of treatment implications as this entity is typically unresponsive to anti-vascular endothelium growth factor (VEGF) therapy. Thermal focal laser (TFL) can have better success in reducing exudation associated with PVAC. Other therapeutic modalities include subthreshold micropulse laser (SML), steroid and anti-inflammatory treatments. In total, this review captured 25 scientific articles covering the treatment of exudative PVAC cases. Accurate multimodal imaging characterization of PVAC is essential for differential diagnosis and management. There are a multitude of similar lesions described in the literature with overlapping MMI features and clinical contexts. These various lesions will be described and defined in an effort to provide clarity of differentiation. We recommend the “PVAC” nomenclature to denote a distinct, primary condition, consistent with its original definition. On the other hand, we support the consolidation of “TelCap” lexicon to characterize the secondary lesion occurring in the context of diabetic retinopathy (DR), retinal vein occlusion (RVO), and other causal retinal vascular disorders.