The Significance of Congenital Portosystemic Shunts in Congenital Heart Disease and the Bizarre Phenomenon of Alternating Portosystemic and Systemic-Portal Shunting.

Congenital portosystemic shunts (CPSSs) are rare vascular anomalies characterized by abnormal connections between the portal/splanchnic veins and the systemic veins. CPSSs often occur as an isolated congenital anomaly, but they can also coexist with congenital heart disease (CHD). Owing to their myriad consequences on multiple organ systems, familiarity with CPSS is of tremendous importance to the care of patients with CHD. The rationale and timing for interventions to embolize CPSS in this scenario are discussed. Specific shunt embolization techniques are beyond the scope of this article.

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.

[Dynamic functional assessment of internal carotid artery tortuosity in patients with multifocal atherosclerosis]. / Dinamicheskaya funktsional'naya otsenka patologicheskikh izvitostei vnutrennikh sonnykh arterii u bol'nykh s mul'tifokal'nym aterosklerozom. Klinicheskii sluchai.

A personalized approach with attention to anamnesis and specific symptoms is necessary in patients with internal carotid artery tortuosity. Neuroimaging (especially before elective surgery) or functional stress tests following ultrasound of supra-aortic vessels may be necessary depending on medical history and complaints. In addition to standard Doppler ultrasound, these patients should undergo rotational and orthostatic transformation tests. We analyze changes in shape and hemodynamic parameters within the tortuosity area in various body positions. This is especially valuable for patients with concomitant carotid artery stenosis. The article presents a clinical case illustrating the importance of such approach.

[Functional assessment of internal carotid artery tortuosity in patients with multifocal atherosclerosis]. / Vazhnost' dinamicheskoi funktsional'noi otsenki patologicheskoi izvitosti vnutrennikh sonnykh arterii u bol'nykh s mul'tifokal'nym aterosklerozom.

The review is devoted to diagnosis and treatment of internal carotid artery tortuosity. The authors consider modern classification, epidemiology and diagnostic options using neuroimaging or ultrasound-assisted functional stress tests depending on medical history and complaints. In addition to standard Doppler ultrasound, rotational and orthostatic tests are advisable due to possible changes of local shape and hemodynamic parameters following body position changes, especially in patients with concomitant atherosclerotic stenosis. Thus, a personalized approach is especially important for treatment and diagnostics of internal carotid artery tortuosity.

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.

Massive left pulmonary artery aneurysm with a co-existing patent ductus arteriosus in a five-year-old female child: A case report.

Pulmonary Artery Aneur ysm (PAA), whether congenital or acquired, is a rare diagnostic find ing com pare d to aor tic aneur ysms. There have been fe w cases where PA As were documented as a complication of untreated Patent Ductus Ar teriosus (PDA) due to long-standing Pulmonary Arterial H ypertension (PAH). However, it is quite rare for a case of PAA to be reported with co-existing PDA without PAH. This report highlights a case of a five -year-old girl who was presented with palpitations, easy fatigability, fever, c yanos is, and vomiting. A Chest X-ray s howed mo derate cardiomega ly. A PDA of 6 mm was diagnosed on Transthoracic E chocardiog rap hy ( TTE ) and a large cavity con necte d with LPA raised suspicion of a possible LPA aneur ysm. A Chest CT scan confirm ed the diagnosis of a saccular aneurysm, originating from the distal part of the main Left Pulmonary Artery (LPA) just proximal to the point of bifurcation into lobar branches, measuring 7.5x6.5 cm. During surgery, the aneurysm was opened, emptied with suction and closed without resecting the aneur ysmal walls. The patient had an uneventful post-op course and is doing well during regular interval follow up visits.

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.

Dysplastic aberrant left subclavian artery originating from a thoracic intersegmental artery associated with a right aortic arch.

PURPOSE: A right aortic arch (RAA) is a rare vascular anomaly that often coexists with an aberrant left subclavian artery (ALSA). Due to the rarity of RAA, the development of an ALSA is not well understood. METHOD: We describe a case in which a 58-year-old man who was scheduled to undergo posterior decompression and fusion surgery for thoracic ossification of the posterior longitudinal ligament from Th1 to Th3 was found to have a RAA and an ALSA. RESULTS: Preoperative computed tomography angiography demonstrated a RAA and an ALSA. The ALSA was extremely tortuous and ran in the paraspinal muscles behind the thoracic laminae, which meant it was in the surgical field. The ALSA arose from the descending aorta and bifurcated into the left segmental arteries of Th1 and Th2, and also bifurcated into the left vertebral artery, which had a normal subsequent course. The dysplastic ALSA was considered to have developed from the thoracic intersegmental artery. Based on preoperative examination findings, we performed spinal surgery without vessel injury. CONCLUSION: We report a rare case of a dysplastic ALSA that developed from the thoracic intersegmental artery with a RAA. The knowledge of this anomaly provides safety in spinal surgery of the cervicothoracic junction.

Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants.

Capillary malformations (CMs) are the most common type of vascular anomalies, affecting around 0.3% of newborns. They are usually caused by somatic pathogenic variants in GNAQ or GNA11. PIK3CA and PIK3R1, part of the phosphoinositide 3-kinase-protein kinase B-mammalian target of rapamycin pathway, are mutated in fainter CMs such as diffuse CM with overgrowth and megalencephaly CM. In this study, we present two young patients with a CM-like phenotype associated with cerebral anomalies and severe epilepsy. Pathogenic variants in PIK3CA and PIK3R1, as well as GNAQ and GNA11, were absent in affected cutaneous tissue biopsies. Instead, we identified two somatic pathogenic variants in the AKT3 gene. Subsequent analysis of the DNA obtained from surgically resected brain tissue of one of the two patients confirmed the presence of the AKT3 variant. Focal cortical dysplasia was also detected in this patient. Genetic analysis thus facilitated workup to reach a precise diagnosis for these patients, associating the vascular anomaly with the neurological symptoms. This study underscores the importance of searching for additional signs and symptoms to guide the diagnostic workup, especially in cases with atypical vascular malformations. In addition, it strongly emphasizes the significance of genotype-phenotype correlation studies in guiding clinicians' informed decision-making regarding patient care.

KTWS (Klippel-Trenaunay-Weber syndrome): A systematic presentation of a rare disease.

BACKGROUND: Klippel-Trenaunay-Weber syndrome (KTWS) is a rare disease with a wide range of manifestations. KTWS is characterized by a clinical triad of varicosities of the extremities, cutaneous vascular malformations, and hypertrophy of soft tissues and long bones. The diagnosis is made clinically supplemented with magnetic resonance imaging and computed tomography. AIM: Hereby we aim to highlight the significance of the possible life-threatening first-time presentations associated with the GI system in previously undiagnosed KTWS patients. PATIENT: We report the case of a 47-year-old male with KTWS, who presented with various symptoms such as rectorrhagia since childhood, digestive problems and abnormal lateral vascular malformations of the left buttock which extended all the way to the leg, vascular malformations of the left fourth and fifth toes as well as soft tissue swelling of the left foot. There was no evidence of other clinical presentations. The patient was hospitalized with severe rectorrhagia and a hemoglobin level of 3/9. Physical examination revealed a blood pressure of 85/55 and pulse rate of 115. Ruptured aneurysm of the superior mesenteric artery was found on angiography and subsequently treated with embolization. Dermatologic evaluation showed pitting edema of the left leg and foot and multiple vascular lesions. Thus a diagnosis of KTWS was established. Pulsed dye laser therapy and compression bandage was performed for the patient. The patient's follow-up was done 3 months after discharge for which the patient was again consulted by a dermatologist and gastroenterologist. Lymphedema of the left leg had improved to a great extend so treatment with compression bandage was continued. Colonoscopy was repeated for the patient to evaluate and control possible active sources of bleeding, due to potential life-threating complications. RESULTS: According to previous findings, there have been few case reports of KTWS presenting with gastrointestinal manifestations, fewer of which have covered acute life-threatening bleedings associated with this system.

Diagnosis and management of Abernethy syndrome.

Abernethy syndrome (AS or extrahepatic portosystemic shunt) is an uncommon congenital malformation consisting of agenesis or hypoplasia of the portal vein (PV) in such a way that splanchnic venous blood drains directly into the systemic circulation through aberrant communications, resulting in a portosystemic shunt that bypasses the liver AS is an underdiagnosed condition with unknown incidence and complication rate given that symptoms are usually absent. AS identification is increasingly common because of improved imaging techniques, hence prognostic implications and clinical management need be understood. This editorial reviews the natural history of AS and its diagnostic-therapeutic implications, illustrating the process with a series of cases from our institution.

Lymphatic Malformations in Parkes Weber's Syndrome: Retrospective Review of 16 Cases in a Vascular Anomalies Center.

INTRODUCTION: Parkes Weber's syndrome (PWS) is a rare genetic disorder characterized by overgrowth and vascular malformations, primarily affecting the extremities. While PWS is known to be associated with arteriovenous and capillary malformations, the potential involvement of lymphatic malformations (LMs) has not been previously reported. The objective of this study is to investigate the presence of lymphatic anomalies in PWS patients and their role in the development of limb asymmetry. MATERIALS AND METHODS: This is a retrospective study of patients diagnosed with PWS in a Vascular Anomalies Center from 1994 to 2020. Clinical data were obtained from medical records including diagnostic imaging, lymphoscintigraphy, and genetic testing. The Institutional Review Board and Ethics Committee have approved this study. RESULTS: A total of 16 patients aged 18 interquartile range 14.7 years diagnosed with PWS were included (50% female). Six of the 16 patients with PWS had clinical and imaging data suggestive of LM (37.5%) and 3 of them had genetic variants in RASA1 (2/3) or KRAS (1/3). Limb asymmetry was greater in patients with isolated PWS (2.6 ± 0.8 cm) than in the PWS-lymphatic anomalies population (2 ± 0.7 cm), although not significant (p = 0.247). One in 6 patients with PWS-LM required amputation (16.6%) versus 1 in 10 in isolated PWS (10%). CONCLUSION: Lymphatic anomalies may be present in a significant number of patients with PWS and could have a role in limb asymmetry and outcomes. It is paramount to investigate their existence and distinguish them from true overgrowth.

Pulmonary Artery Aneurysm in a Patient with Nontuberculous Mycobacteria Infection.

Nontuberculous mycobacterial (NTM) infection sometimes leads to the development of pulmonary artery aneurysm (PAA), a rare but life-threatening complication. We herein report a 64-year-old woman with a history of NTM infection who presented with severe hemoptysis. Computed tomography revealed a ruptured PAA, which was treated successfully with pulmonary artery embolization. Subsequent right total pneumonectomy was performed to control infection. This case emphasizes the need to consider PAA in patients with NTM infection who present with hemoptysis. Early detection and appropriate management are critical for preventing this fatal complication.

Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA.

Turner syndrome (45,X) is caused by a complete or partial absence of a single X chromosome. Vascular malformations occur due to abnormal development of blood and/or lymphatic vessels. They arise from either somatic or germline pathogenic variants in the genes regulating growth and apoptosis of vascular channels. Aortic abnormalities are a common, known vascular anomaly of Turner syndrome. However, previous studies have described other vascular malformations as a rare feature of Turner syndrome and suggested that vascular abnormalities in individuals with Turner syndrome may be more generalized. In this study, we describe two individuals with co-occurrence of Turner syndrome and vascular malformations with a lymphatic component. In these individuals, genetic testing of the lesional tissue revealed a somatic pathogenic variant in PIK3CA-a known and common cause of lymphatic malformations. Based on this finding, we conclude that the vascular malformations presented here and likely those previously in the literature are not a rare part of the clinical spectrum of Turner syndrome, but rather a separate clinical entity that may or may not co-occur in individuals with Turner syndrome.

Trans-catheter closure of an unusual type of Abernethy malformation in a child presenting with severe pulmonary hypertension.

Abernethy malformation is a congenital extra-hepatic porto-systemic shunt. This malformation is characterized by an abnormal connection between the portal vein or its branches and one of the systemic veins. Though rare, this anomaly can lead to pulmonary hypertension. Drainage of Abernethy malformation into coronary sinus is extremely rare. We describe a child with Abernethy malformation with unusual drainage into coronary sinus. The abnormal channel was successfully closed by trans-catheter technique with normalisation of pulmonary arterial pressures.

Effectiveness of polidocanol sclerotherapy in alleviating symptoms in patients with venous malformations.

OBJECTIVE: The objective of this study was to retrospectively evaluate the effectiveness of polidocanol in managing pain, swelling, functional limiting and cosmetic disorders in patients with venous malformations (VMs). METHODS: This retrospective study included patients who underwent sclerotherapy with polidocanol for VMs between 2020 and 2022. Patient records, imaging findings, and evaluation questionnaires used in the preprocedure and follow-up phases were reviewed. After sclerotherapy, patients were followed up at 1, 2, 3, and 6 months. During these visits, the previously used 11-point verbal numerical rating scale (from 0 [no pain] to 10 [worst pain thinkable]) was used to evaluate the severity of symptoms such as pain, swelling, cosmetic discomfort, and functional limitation, and patients were asked to report the number of days per week they experienced these symptoms owing to the VM. RESULTS: A total of 194 sclerotherapy procedures (mean, 1.6 ± 0.3 procedures) in 84 patients (55 female and 29 male patients; mean age, 22.45 ± 11.83 years) were conducted. The majority of these malformations (81%, or 68 patients) were located in the extremities. We found a significant decrease in pain, swelling, functional limitation, cosmetic appearance, and number of painful days between all time points, except for the comparison between months 3 and 6 (P < .001) CONCLUSIONS: Polidocanol sclerotherapy is a safe and effective treatment for VMs that significantly decreases patient complaints and has a very low complication rate. Particularly, following patients at short intervals and administering additional sclerotherapy sessions when necessary will significantly increase patient satisfaction.

Comparison of bleomycin polidocanol foam vs electrochemotherapy combined with polidocanol foam for treatment of venous malformations.

OBJECTIVE: This study aims to investigate the difference in safety and efficacy between two treatments for venous malformations (VMs), electrochemotherapy combined with polidocanol foam (ECP) and bleomycin polidocanol foam (BPF), providing alternative therapies for VMs. METHODS: We conducted a retrospective review of 152 patients with VMs treated with ECP and BPF. Pre- and post-treatment magnetic resonance images (MRIs) were collected, and clinical follow-up assessments were performed. Imaging results were used to calculate lesion volume changes. Clinical outcomes included changes in pain and improvements in perceived swelling. Patients were followed up at 1 week and 6 months after surgery. All emerging complications were documented in detail. RESULTS: Of the 152 patients, 87 (57.2%) received BPF treatment, and 65 (42.8%) received ECP treatment. The most common location of VMs was the lower extremities (92/152; 60.2%), and the most common symptom was pain (108/152; 71.1%). Forty-three patients had previously undergone therapy in the BPF group (43/87; 49.4%), whereas 30 patients had received prior treatment in the ECP group (30/65; 46.2%). The study found that the percentage of lesion volume reduction in the BPF group was not significantly different from that in the ECP group (75.00% ± 17.85% vs 74.69% ± 8.48%; P = .899). ECP was more effective when the initial lesion volume was greater than 30 mL (67.66% ± 12.34% vs 73.47% ± 8.00%; P = .048). Patients treated with BPF had significantly less posttreatment pain than those treated with ECP, in different baseline lesion size. In the overall sample, pain relief was significantly higher in the BPF group than in the ECP group (4.21 ± 1.19 vs 3.57 ± 0.76; P = .002). However, there was no difference in pain relief between the two groups for the treatment of initially large VMs (4.20 ± 0.94 vs 3.70 ± 0.87; P = .113). The ECP group was significantly more likely to develop hyperpigmentation (5/87; 5.75% vs 11/65; 16.92%; P = .026) and swelling (9/87; 10.34% vs 16/65; 24.62%; P = .019) 1 week after surgery than the BPF group. CONCLUSIONS: Our study demonstrates that both BPF and ECP are effective treatments for VMs, with BPF being a safer option. ECP is a better choice for patients with the initial lesion volume greater than 30 mL, but it is more likely to lead to early swelling and hyperpigmentation.

Venous Anomalies Complicating Anterior Lumbar Interbody Fusion Exposures.

The effects of anomalous vasculature impeding optimal exposure to an anterior lumbar interbody fusion approach are limited in literature. We present five individual, unique cases of vascular anomalies in patients undergoing two-stage anterior-posterior lumbar interbody fusion. Cases 1, 2, 4, and 5 have yet to be described in literature in context of anterior lumbar interbody fusions. Case 3 presents anomalous vasculature that has only been described in two other case reports. Case 1 presents the right internal iliac vein originating from the left common iliac vein which was transected for L4-L5 vertebral disc exposure. Case 2 presents the left internal iliac vein originating from the right common iliac vein which required an oblique approach. Case 3 presents a duplicated inferior vena cava that was taken into account but did not interfere with the anterior retroperitoneal approach. Case 4 presents large osteophytes adhering to the left common iliac vein which limited safe dissection and mobilization. Case 5 presents the left internal iliac vein with a high takeoff spanning across the L5-S1 vertebral disc space and requiring transection. This case series highlights the need for preoperative imaging and a working detailed knowledge of anatomy to avoid damaging vasculature that can potentially lead to fatal consequences. The information given in this case series should inform both spine and vascular surgeons on proper preoperative planning. To maximize operative efficiency and safety, spine surgeons and vascular surgeons should collaborate to minimize surgical complications.