Validating a Curvature-Based Marker of Cervical Carotid Tortuosity for Risk Assessment in Heritable Aortopathies.

BACKGROUND: Cervical arterial tortuosity is associated with adverse outcomes in Loeys-Dietz syndrome and other heritable aortopathies. METHODS AND RESULTS: A method to assess tortuosity based on curvature of the vessel centerline in 3-dimensional space was developed. We measured cervical carotid tortuosity in 65 patients with Loeys-Dietz syndrome from baseline computed tomography angiogram/magnetic resonance angiogram and all serial images during follow-up. Relations between baseline carotid tortuosity, age, aortic root diameter, and its change over time were compared. Patients with unoperated aortic roots were assessed for clinical end point (type A aortic dissection or aortic root surgery during 4 years of follow-up). Logistic regression was performed to assess the likelihood of clinical end point according to baseline carotid tortuosity. Total absolute curvature at baseline was 11.13±5.76 and was relatively unchanged at 8 to 10 years (fold change: 0.026±0.298, P=1.00), whereas tortuosity index at baseline was 0.262±0.131, with greater variability at 8 to 10 years (fold change: 0.302±0.656, P=0.818). Baseline total absolute curvature correlated with aortic root diameter (r=0.456, P=0.004) and was independently associated with aortic events during the 4-year follow-up (adjusted odds ratio [OR], 2.64 [95% CI, 1.02-6.85]). Baseline tortuosity index correlated with age (r=0.532, P<0.001) and was not associated with events (adjusted OR, 1.88 [95% CI, 0.79-4.51]). Finally, baseline total absolute curvature had good discrimination of 4-year outcomes (area under the curve=0.724, P=0.014), which may be prognostic or predictive. CONCLUSIONS: Here we introduce cervical carotid tortuosity as a promising quantitative biomarker with validated, standardized characteristics. Specifically, we recommend the adoption of a curvature-based measure, total absolute curvature, for early detection or monitoring of disease progression in Loeys-Dietz syndrome.

A Rare Case of Internal Jugular Venous Malformation Treated by Surgical Excision.

This paper reports a case of an internal jugular venous malformation (IJVM) and route of treatment in a patient with limited symptoms. After history and imaging studies, a determination of surgical excision was made to rule out possible malignancy and future problems such as thrombosis. The mass was resected, and part of the IJVM was ligated. The mass had no identifiable malignancy, and the patient recovered fully with no complications. The paper highlights the importance of identifying venous malformations and highlights the reasoning behind the course of action.

ACR Appropriateness Criteria® Soft Tissue Vascular Anomalies: Vascular Malformations and Infantile Vascular Tumors (Non-CNS)-Child.

Soft tissue vascular anomalies may be composed of arterial, venous, and/or lymphatic elements, and diagnosed prenatally or later in childhood or adulthood. They are divided into categories of vascular malformations and vascular tumors. Vascular malformations are further divided into low-flow and fast-flow lesions. A low-flow lesion is most common, with a prevalence of 70%. Vascular tumors may behave in a benign, locally aggressive, borderline, or malignant manner. Infantile hemangioma is a vascular tumor that presents in the neonatal period and then regresses. The presence or multiple skin lesions in an infant can signal underlying visceral vascular anomalies, and complex anomalies may be associated with overgrowth syndromes. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision process support the systematic analysis of the medical literature from peer reviewed journals. Established methodology principles such as Grading of Recommendations Assessment, Development, and Evaluation or GRADE are adapted to evaluate the evidence. The RAND/UCLA Appropriateness Method User Manual provides the methodology to determine the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where peer reviewed literature is lacking or equivocal, experts may be the primary evidentiary source available to formulate a recommendation.

Diagnosis of a chronic wound in the special case of a vascular malformation: A proposal of the Wound and Healing Group of the French Society of Vascular Medicine.

Vascular malformations can present with a variety of symptoms and an unpredictable course with the occurrence of wounds. Ulcerations in patients with vascular malformations are fortunately rare. Although few data exist, complications may involve a variety of mechanistic or hemodynamic factors. A rigorous etiological and vascular assessment is therefore essential. In view of the paucity of recommendations, the Wound and Healing Group of the French Society of Vascular Medicine, based on the literature on the subject, presents a number of suggestions for the diagnosis and management of wounds associated with vascular malformations.

Deep venous thrombosis in patients with atresia of the inferior vena cava and right kidney hypoplasia (KILT syndrome): Systematic review of the literature.

Inferior vena cava (IVC) anomalies are uncommon congenital causes of deep vein thrombosis (DVT). KILT syndrome (kidney and IVC abnormalities with leg thrombosis) has only been described as case reports in the literature. Therefore, the characteristics, evaluation, and management of patients with KILT syndrome have not yet been standardized. This study aimed to systematically review and analyze the clinical and radiographic data and treatment of previously reported cases of KILT syndrome. In this systematic review, we performed a literature search of the PubMed, Scopus, and Web of Science databases in December 2023, with no restrictions on the publication date. After duplicate extractions, 4195 articles were screened. Case reports and case series reporting on KILT syndrome were included. In addition to previously published cases, we included a new case of a previously healthy 25-year-old man with KILT syndrome in the analysis. A total of 34 cases were therefore included in this study. The majority (76.5%) were male patients with a median age of 24 years. In most patients, unprovoked bilateral iliofemoral thrombosis was diagnosed, and 64.7% had left kidney abnormalities. Our study suggests that anomalies of the IVC should be suspected in all young patients, especially male patients, with proximal, recurrent, or idiopathic DVT. If an IVC anomaly is confirmed, the kidneys should be examined to monitor and preserve healthy kidneys in cases of KILT syndrome. The data collected from all patients emphasize the requirement of long-term anticoagulation and risk factor control. Surgical measures may be effective for treating symptomatic refractory cases.

A rare case of isolated persistent left superior vena cava diagnosed by echocardiography.

BACKGROUND: The persistent left superior vena cava (PLSVC) is an infrequent vascular variant. PLSVC with absent right superior vena cava, also known as isolated PLSVC, is an exceptionally rare entity. In this case we present a patient with isolated PLSVC draining to coronary sinus, diagnosed incidentally during echocardiography. CASE PRESENTATION: A 35-year-old man underwent a transthoracic echocardiography which showed an enormously dilated coronary sinus. Hand-agitated saline was injected via peripheral intravenous cannulas. The contrast appeared firstly in the coronary sinus before it opacified the right atrium. Since this was also visible by the right antecubital saline injection, it indicated an extremely rare case of PLSVC with the absence of right superior vena cava which was confirmed by cardiac magnetic resonance. CONCLUSIONS: The finding of a distinctively dilated coronary sinus in echocardiography led us to further investigation using agitated saline that revealed an infrequent anomaly termed isolated PLSVC. The in-depth diagnosis of this vascular variant is crucial considering that it may lead to important clinical implications, such as difficulties with central venous access, especially in the current era of a rapid development of cardiac device therapies.

Biological identity of orbital cavernous venous malformations.

Vascular anomalies comprise a wide spectrum of clinical manifestations related to disturbances in the blood or lymph vessels. They correspond to mainly tumors (especially hemangiomas), characterized by high mitotic activity and proliferation of the vascular endothelium, and malformations, endowed with normal mitotic activity and no hypercellularity or changes in the rate of cell turnover. However, the classifications of these lesions go beyond this dichotomy and consist various systems adapted for and by different clinical subgroups. Thus, the classifications have not reached a consensus and have historically caused confusion regarding the nomenclatures and definitions. Cavernous venous malformations of the orbit, previously called cavernous hemangiomas, are the most common benign vascular orbital lesions in adults. Herein, we have compiled and discussed the various evidences, including clinical, radiological, morphological, and molecular evidence that indicate the non-neoplastic nature of these lesions.

Fetal diagnosis and management of pulmonary artery sling: A case series.

OBJECTIVE: Pulmonary artery sling is a rare congenital anomaly accounting for 2% of all patients with vascular anomalies that cause airway obstruction. In the normal heart, the left (LPA) and right (RPA) pulmonary arteries arise in the intrapericardial space. However, in the pulmonary artery sling, the LPA trunk arises in the extrapericardial space from the posterior aspect of the mid RPA and courses posterior to the trachea causing tracheal compression and, at times, bronchial compression. While a full spectrum of congenital cardiac pathology can be identified before birth, only a few case reports document the prenatal diagnosis of an Left pulmonary artery sling (LPAS). METHOD: We retrospectively identified all cases of prenatal LPAS from three Canadian fetal cardiology centers (2015-2022). RESULTS: Using the 3-vessel-tracheal view via fetal echocardiography (FE), four fetuses from three pregnancies demonstrated abnormal origin of the LPA from RPA and echogenic trachea. In one of two affected monochorionic twins coronal imaging demonstrated a significant narrowing of the large airways consistent with significant airway obstruction. CONCLUSION: Prenatal detection of LPAS by FE is possible and should prompt an evaluation for airway obstruction in the coronal view. Investigating associated lesions and genetic testing are recommended for informed shared decision making.

Whole-lesion assessment of volume and signal changes after sclerotherapy of extremity venous malformations.

PURPOSE: To investigate quantitative changes in MRI signal intensity (SI) and lesion volume that indicate treatment response and correlate these changes with clinical outcomes after percutaneous sclerotherapy (PS) of extremity venous malformations (VMs). METHODS: VMs were segmented manually on pre- and post-treatment T2-weighted MRI using 3D Slicer to assess changes in lesion volume and SI. Clinical outcomes were scored on a 7-point Likert scale according to patient perception of symptom improvement; treatment response (success or failure) was determined accordingly. RESULTS: Eighty-one patients with VMs underwent 125 PS sessions. Treatment success occurred in 77 patients (95 %). Mean (±SD) changes were -7.9 ± 24 cm3 in lesion volume and -123 ± 162 in SI (both, P <.001). Mean reduction in lesion volume was greater in the success group (-9.4 ± 24 cm3) than in the failure group (21 ± 20 cm3) (P =.006). Overall, lesion volume correlated with treatment response (ρ = -0.3, P =.004). On subgroup analysis, volume change correlated with clinical outcomes in children (ρ = -0.3, P =.03), in sodium tetradecyl sulfate-treated lesions (ρ = -0.5, P =.02), and in foot lesions (ρ = -0.6, P =.04). SI change correlated with clinical outcomes in VMs treated in 1 PS session (ρ = -0.3, P =.01) and in bleomycin-treated lesions (ρ = -0.4, P =.04). CONCLUSIONS: Change in lesion volume is a reliable indicator of treatment response. Lesion volume and SI correlate with clinical outcomes in specific subgroups.

Deep learning-based differentiation of peripheral high-flow and low-flow vascular malformations in T2-weighted short tau inversion recovery MRI.

BACKGROUND: Differentiation of high-flow from low-flow vascular malformations (VMs) is crucial for therapeutic management of this orphan disease. OBJECTIVE: A convolutional neural network (CNN) was evaluated for differentiation of peripheral vascular malformations (VMs) on T2-weighted short tau inversion recovery (STIR) MRI. METHODS: 527 MRIs (386 low-flow and 141 high-flow VMs) were randomly divided into training, validation and test set for this single-center study. 1) Results of the CNN's diagnostic performance were compared with that of two expert and four junior radiologists. 2) The influence of CNN's prediction on the radiologists' performance and diagnostic certainty was evaluated. 3) Junior radiologists' performance after self-training was compared with that of the CNN. RESULTS: Compared with the expert radiologists the CNN achieved similar accuracy (92% vs. 97%, p = 0.11), sensitivity (80% vs. 93%, p = 0.16) and specificity (97% vs. 100%, p = 0.50). In comparison to the junior radiologists, the CNN had a higher specificity and accuracy (97% vs. 80%, p < 0.001; 92% vs. 77%, p < 0.001). CNN assistance had no significant influence on their diagnostic performance and certainty. After self-training, the junior radiologists' specificity and accuracy improved and were comparable to that of the CNN. CONCLUSIONS: Diagnostic performance of the CNN for differentiating high-flow from low-flow VM was comparable to that of expert radiologists. CNN did not significantly improve the simulated daily practice of junior radiologists, self-training was more effective.

Successful use of sclerotherapy in giant supraglottic vascular malformation.

A young male patient presented with an incidental finding of a large supraglottic vascular lesion. The lesion was initially noted during intubation 4 years ago. Although originally listed for elective excision, there was a significant delay and at the time of surgery, the lesion proved too large to remove and a significant threat to the patient's airway. An emergency tracheostomy was performed, followed by two consecutive treatments with sclerotherapy agents to reduce the size of the lesion. It was then successfully excised using a Thunderbeat ultrasound and bipolar dissection and cautery device.

The diagnostic value of ultrasonography in evaluation of the intraneural vascular anomalies of peripheral nerves.

BACKGROUND: The imaging diagnosis of intraneural vascular anomalies of peripheral nerves mostly depended on magnetic resonance imaging (MRI), whereas high-frequency ultrasonography evaluation of intraneural vascular anomalies has been seldom done. PURPOSE: To evaluate the diagnostic value of ultrasonography in the diagnosis of intraneural vascular anomalies of peripheral nerves. MATERIAL AND METHODS: A total of 69 consecutive patients seen at Shandong Provincial Hospital Affiliated to Shandong First Medical University between February 2013 and June 2022, each with a clinical suspicion of intraneural vascular anomaly, were included. The ultrasonographic images of intraneural vascular anomalies of peripheral nerves were analyzed and the ultrasonographic features were summarized. These data were compared with MRI, which served as the gold standard for the diagnosis of intraneural vascular anomalies. The kappa statistic was adopted to determine the level of agreement. The sensitivity, specificity, positive and negative predictive values, accuracy, and Youden index of high-frequency ultrasonography as a diagnostic tool were assessed. RESULTS: Ultrasonography findings were positive in 20 of 69 patients with a clinical suspicion of intraneural vascular anomaly. The diagnosis was confirmed by MRI in 21 patients. There was one false-positive result and two false-negative results by ultrasonography. The κ value was 0.896. The sensitivity, specificity, positive and negative predictive values, accuracy, and Youden index of ultrasonography were 90.5%, 97.9%, 95%, 95.9%, 95.7%, and 0.884, respectively. CONCLUSION: Ultrasonography could be an accurate, reliable, and convenient imaging tool for the diagnosis of intraneural vascular anomalies of peripheral nerves.

Blood within the bone: orbital intraosseous venous malformation.

PURPOSE: Description of clinical features, radiological characteristics, and management strategies in primary orbital intraosseous venous malformation (OIVM) with pertinent literature review. METHODS: A retrospective analysis including clinical, radiologic, operative, and histopathological data of six cases of histopathologically proven OIVM was done. A comprehensive literature review was conducted using online databases and augmented with manual search to identify reported cases of OIVM. RESULTS: Study data showed five females and one male in young to middle-age group, with an average age of 30 years (range: 20-48 years). Proptosis was noted in five cases (83.33%), and the duration of symptoms ranged from 6 months to 10 years. Frontal and zygomatic bones were most frequently affected and expansile bony lesion was the most common CT scan finding. Three patients underwent pre-operative embolization of feeders followed by en bloc excision of mass and surgical reconstruction (50%); one patient was managed with partial excision (16.66%) while two were regularly followed-up after incision biopsy (33.33%). Histopathology revealed vascular spaces with endothelial lining, separated by bony trabeculae in all patients. Follow-up periods ranged from 6 to 48 months and no recurrence or progression were noted. CONCLUSIONS: OIVM is an exceptionally rare disorder with a gradually progressive benign course. Ophthalmologists need to be mindful of this entity during patient evaluation as it has propensity for large volume blood loss intra-operatively, owing to its vascular nature. Complete excision with reconstruction of resultant defect is the preferred treatment strategy and without known recurrence.

Use of greyscale and Doppler ultrasound in initial evaluation and follow-up of neurovascular malformations in children.

Pediatric intracranial arteriovenous shunts are rare vascular malformations that can be diagnosed prenatally or postnatally, as an incidental finding or due to complications. We propose a review of cerebral vascular malformations in newborns and infants with special emphasis on neurosonography and Doppler ultrasound as the first diagnostic method. Sonography can thus contribute in the planning of further studies that are always necessary, and in post-therapy follow-up.

Comparison of wireless handheld ultrasound and high-end ultrasound in pediatric patients with venous malformations - First results.

AIM: To evaluate the usefulness of handheld ultrasound in comparison with high-end ultrasound for lesion evaluation before and after sclerotherapy in pediatric patients with venous malformations (VMs). MATERIAL AND METHODS: 10 pediatric patients prior to and after sclerotherapy were scanned by an experienced examiner using handheld ultrasound (Vscan AirTM) and high-end ultrasound (LOGIQ E9/E10) as reference. Patients with associated venous thromboses and intralesional aneurysms had been excluded. Results were interpreted independently by two readers in consensus. RESULTS: 10 patients (4-17 years; 10.0±4.32 years; female n = 6, male n = 4) with 10 VMs (4 of the head and neck region, 4 of the upper and 2 of the lower extremities) were examined. 7 phleboliths were detected. The average rating score achieved by the high-end device never was less than 4, by Vscan AirTM never less than 3. An exception was the assessment of AV fistulas. In comparison with the evaluation of variables examined, we found a significant difference between the high-end scanner and the handheld device regarding the achieved image quality. CONCLUSION: Vscan AirTM ultrasound device allows new possibilities for procedure planning and post-procedural control of pediatric patients with VMs.

Percutaneous Sclerotherapy of Large Venous Malformations Using Consecutive Polidocanol and Bleomycin Foam: MR Imaging Volumetric and Quality-of-Life Assessment.

PURPOSE: To retrospectively evaluate sclerotherapy using consecutive polidocanol and bleomycin foam (CPBF) for large untreated venous malformations (VMs) and/or those resistant to prior treatment. MATERIALS AND METHODS: This retrospective study included all patients treated with CPBF for untreated VMs larger than 10 mL and/or refractory to treatment between May 2016 and October 2019. Baseline and follow-up VM volumes were measured on fat-suppressed T2-weighted magnetic resonance (MR) imaging. Outcome was evaluated on postprocedural MR imaging volumetry and by a retrospective survey assessing clinical response and adverse events. Imaging response was considered good for volume reduction from 50% to 70% and excellent for volume reduction ≥70%. Symptoms and quality-of-life (QoL) scores were compared before and after CPBF sclerotherapy. RESULTS: Forty-five patients (mean age, 16 years; range, 1-63 years; 25 males) with 57 VMs were analyzed and treated by 80 sclerotherapy. Sixty percent (27 of 45) of patients had undergone prior treatment for VM. Median VM volume was 36.7 mL (interquartile range, 84 mL) on pretherapy MR imaging. Good and excellent results after the last sclerotherapy were achieved in 36% (16 of 45) and 29% (13 of 45) of patients, respectively, corresponding to a decrease of >50% in 60% (34 of 57) of VMs. QoL score increased by at least 3 points, regardless of initial symptoms. Most patients did not desire additional sclerotherapy owing to near complete symptomatic relief, even for patients who did not achieve a good response. Swelling, pain, and motor impairment scores significantly improved after CPBF. Adverse events included fever (44%, 15 of 34) and nausea/vomiting (29%, 10 of 34). CONCLUSIONS: CPBF sclerotherapy represents an effective therapy for large and/or refractory VMs with minimal adverse events.