Rare Vascular Anomaly Research Articles

A rare case of Neuhauser syndrome associated with a Kommerell diverticulum.

Neuhauser syndrome is a rare vascular anomaly characterized by the esophagus and trachea circling via the ligamentum arteriosum and right aortic arch. Kommerell's diverticulum have the same characteristic by an outpouch at the onset of an aberrant left subclavian artery worsening this compression. The association between these pathologies is very rare and the operative strategy is unclear. We describe a case with the association with a computed tomography scanner aortic reconstruction and a repair's operative strategy.

55 Evidence behind drug use in vascular anomalies: From infantile hemangioma to rare vascular anomalies … What do we know about what we do with local, systemic, or sclerotherapy treatment?

Abstract Primary Subject area Clinical Pharmacology and Toxicology Background The most common vascular anomaly (VA) requiring medical treatment are infantile hemangiomas, but many other vascular anomalies affecting children are treated with local, systemic drugs or sclerosing agents. Rational drug prescribing implies assessment of whether a drug’s benefits outweigh the risk of adverse effects for treatment of a specific vascular anomaly. This process relies on the quality of the literature on efficacy and safety for drug treatment of vascular anomalies. Objectives To evaluate the level of evidence surrounding drug use in vascular anomalies. Design/Methods A list of drugs used in vascular anomalies was created with existing guidelines. For each drug, the article displaying the highest level of evidence was determined, using Oxford criteria. Levels of evidence were compared between efficacy and safety data, routes of administration, pharmacological categories, and a subset of specific vascular anomalies. The influence of research quality on study results was explored by comparing the percentage of clinical efficacy between high- and low-quality studies. Results We identified 71 different drugs for treating vascular anomalies. The median level of evidence was low, with a predominance of retrospective cohort studies and case reports. The level of evidence was higher for efficacy than safety data and for common diseases like infantile hemangiomas. The level of evidence was lower for systemic vs. local drugs. Clinical efficacy was more frequently reported in low quality studies (retrospective cohort studies and case reports) than in high quality studies (randomized clinical trial and meta-analysis). Conclusion Quality of research on drugs used for treating vascular anomalies in infants is poor and challenges rational drug use. Indeed, knowledge of drug treatment in VA relies mainly on research of poor methodological quality. Despite the use of drugs carrying a significant risk of adverse effects, drug safety is also poorly reported. This is alarming because some treatments, like antineoplastic agents and immunosuppressants, display an unsafe adverse effect profile. A publication bias towards positive results probably leads to overestimation of drug efficacy in vascular anomalies. An independent international pharmacovigilance system for drug use in vascular anomalies is proposed to improve efficacy and safety reporting and promote quality drug prescribing.

Intra-articular venous malformations of the knee: a diagnostic challenge

BackgroundIntra-articular venous malformations (IAVM) are rare benign vascular anomalies that usually affect young patients and most common locate in the knee. The terminology of these lesions is still ill-defined, as they are often termed in the literature as synovial hemangiomas. Early diagnosis can be difficult, because they usually present with nonspecific clinical manifestations that are similar those of other rheumatic diseases, especially juvenile idiopathic arthritis (JIA).Case seriesWe conducted a retrospective analysis of five pediatric patients admitted to our units for recurrent swelling of the knee, and compared their characteristics with those of literature reports. The average age at first symptom and time from onset to diagnosis was 3.9 years (range 18 months-7 years) and 3.5 years (range 1-7 years), respectively. In our patients, an initial misdiagnosis of JIA, bleeding disorder or traumatic arthropathy was made. On MRI imaging, the features of the lesion were similar in all patients, and were marked by isointense-to-hypointense signal in T1-weighted images, and hyperintense signal in T2-weighted images. When performed, arthrocentesis led to aspiration of bloody fluid. The diagnosis was confirmed with a biopsy and histopathologic assessment in all patients. Open surgery enabled complete excision of the mass and was followed by stable remission over time in all cases.ConclusionsOur report highlights the challenges that may be posed by the detection of knee IAVM and the frequent long delay between onset of symptoms and diagnosis. The key elements for early recognition include careful assessment of patient history, demonstration of bloody fluid on arthrocentesis, and proper interpretation of MRI scanning.

English

Pulmonary arteriovenous malformation (PAVM) is one of the rare pulmonary vascular anomalies. Pulmonary arteriovenous malformation results in right to left shunt due to the abnormal communications between the pulmonary arteries and the pulmonary veins bypassing the normal capillary bed.1 This condition being rare could be easily missed, hence, it is essential for clinicians to suspect it based on the classical clinical features. This helps in early diagnosis and deciding further appropriate treatment option. Here we report the case of a patient affected by a large idiopathic pulmonary arteriovenous malformation in the right lung. Most patients with pulmonary arteriovenous malformation are asymptomatic. This is due to the chronic compensation and secondary erythrocytic response. Dyspnoea due to PAVMs are a result of right-to-left shunt. Initial diagnostic tools include chest radiography and contrast enhanced computed tomography but the gold standard is pulmonary angiography.2 Because AVM has substantial morbidity rates associated with it, all patients with PAVMs who can undergo embolization should be treated with transcatheter embolization. In rest of the patients, surgical excision should be considered. The main objective of this study was to highlight the early suspicion and diagnosis of pulmonary arteriovenous malformation as this is easily missed and leads to undue delay of treatment.

S2134 Pulmonary Artery Sling—An Extremely Rare Etiology of Dysphagia

Introduction: Pulmonary artery sling (PAS) is a rare anomaly created when the left pulmonary artery originates from the posterior aspect of the right pulmonary artery and courses over from right to left, posterior to the trachea or carina and anterior to the esophagus, to reach the hilum of the left lung. While coursing, it can compress the trachea or the esophagus resulting in airway or esophageal obstruction. Case Description/Methods: 43-year-old man with history of Down’s syndrome was evaluated for esophageal dysphagia for solid food of 2-month duration. EGD was unrevealing except for mild distal esophagitis. Mid and distal esophageal biopsies were negative for eosinophilic esophagitis. Barium esophagogram revealed extrinsic impression on the right side of esophagus just inferior to the aortic arch. CT thorax revealed showed presence of left pulmonary artery (PAS) corresponding to the above-mentioned extrinsic impression seen on esophagogram. Due to complexity and high mortality associated with the required corrective surgery it was decided to manage this condition conservatively with dietary modifications. Discussion: Vascular rings are congenital anomalies that can present with a variety of pulmonary and gastroesophageal symptoms. PAS is a rare vascular anomaly first described by Glaevecke and Doehle in 1897. PAS can be associated with congenital cardiac anomalies like ASD, VSD or PDA or airway anomalies like tracheal stenosis. Majority of patients are symptomatic and 2/3rd of patients presents within their first 2 months of life mainly with respiratory symptoms of stridor, respiratory distress, cyanosis, wheezing, and/or pneumonia. Presentation in adulthood is extremely rare as only one other case of adult-onset dysphagia caused by PAS has been reported in English literature in 1966 by Dumler. Arteriosclerotic dilatation of the anomalous pulmonary artery can account for late onset of dysphagia in previously asymptomatic individuals. Corrective surgery is mainstay of treatment for life-limiting symptoms after failure of conservative management.Figure 1.: Cartoon depiction of Pulmonary sling (A), Esophagram (B), CT (C, D) showing aberrant pulmonary artery.

Cervical Aortic Arch with Hypoplastic Left Common Carotid Artery and Subaortic Left Brachiocephalic Vein.

Cervical Aortic Arch with Hypoplastic Left Common Carotid Artery and Subaortic Left Brachiocephalic Vein.

Radiоtherapy as salvage therapy for kaposiform hemangioendothelioma and giant angioma associated with Kasabach–Merritt phenomenon

The Kasabach–Merritt phenomenon is a rare thrombocytopenic consumption of coagulopathy that occurs against the background of such vascular anomalies as kaposiform hemangioendothelioma and giant angioma. Timely diagnosis and treatment of Kasabach–Merritt syndrome which includes therapy for vascular tumors and life‑threatening conditions are critical in resolving this rare vascular anomaly. The aim of the study is to analyze radiation therapy as salvage therapy for kaposiform hemangioendothelioma and giant angioma associated with the Kasabach–Merritt phenomenon.

25418 Clinical utility of clinical, radiologic and tissue studies of verrucous venous malformation

Verrucous venous malformation (VVM) is a rare congenital vascular anomaly that is difficult to diagnose because it shares similar characteristics with other vascular malformations. Clinical examination, diagnostic imaging, and tissue biopsies are important in the assessment of VVM. Our study aims to determine the degree of diagnostic concordance between clinical assessment and diagnostic imaging with tissue analysis for VVM. We retrospectively reviewed cases from 2011-2019 at Texas Children’s Hospital, Houston, TX with a histopathologic diagnosis of VVM.

The Persistent Sciatic Artery Aneurysm a Cause of Recurrent Limb Ischemia – A Rare Case Report

A persistent sciatic artery (PSA) is a rare vascular anomaly. It can cause complications, including acute and chronic limb ischemia, aneurysm formation, and compression of adjacent tissues during early embryonic development, the sciatic artery usually disappears when the superficial femoral artery has developed properly. PSA is usually an incidental finding and is exceedingly rare to find bilaterally. We are presenting a rare case of unilateral PSA aneurysm presented as an episode of recurrent acutely ischemic limb.

A Persistent left Superior Vena Cava: Case report

Background: Persistent left superior vena cava (PLSVC) is rare but important congenital vascular anomaly. It results when the left superior cardinal vein caudal to the innominate vein fails to regress. It is most commonly observed in isolation but can be associated with other cardiovascular abnormalities including atrial septal defect, bicuspid aortic valve, coarctation of aorta, coronary sinus ostial atresia, and cortriatriatum. Objective: Aimof this case presentation was to describe a rare case of persistent left superior vena cava that is associated with atrial septal defect and partial anomalous pulmonary venous drainage. Also, how to suspect and then confirm the presence of PLSVC by echocardiographic examination, and to know the role of multi-slice CT and cardiac MRI for detection of other cardiac and extra-cardiac anomalies. Patients and methods: Male patient aged 32 year complaining of shortness of breath for about 1 year, echocardiographic examination revealed dilated coronary sinus and injection of agitated saline indicated the presence of persistent left superior vena cava. PLSVC may be associated with other anomalies so further evaluation by multi-slice CT was done to confirm the diagnosis of PLSVC as well as sinus venosus ASD and partial anomalous pulmonary venous drainage so surgical consultation was done for surgical correction. Conclusion: Diagnosis of PLSVC is important, as it is often associated with other anomalies as atrial septal defect and partial anomalous pulmonary venous drainage, which lead to pulmonary hypertension and need surgical correction before the occurrence of pulmonary hypertension.

Verrucous Venous Malformation and Overgrowth: About Two Cases

Verrucous venous malformations (VVM), previously known as verrucous hemangiomas, are rare congenital vascular anomalies that initially appear as flat blue-red lesions that progressively evolve into very characteristic wart and hyperkeratotic forms. They mainly affect the lower extremities and, unlike angiokeratoma, they extend into the deep dermis, subcutaneous tissue and even reach the fascia.

Persistent left superior vena cava and its clinical correlation - A cadaveric study

Background: Presented is a case of persistent left superior vena cava draining into the right atrium through coronary sinus and finally opens into right atrium. Abnormalities of the vascular system are more commonly seen due to its importance in circulation. Persistent left superior vena cava is rare but important congenital vascular anomaly. It results when the left superior cardinal vein caudal to the innominate vein fails to regress.The venous anomaly of a persistent left superior vena cava (PLSVC) affects 0.3%–0.5% of the general population. Normally the superior vena cava is a single vascular structure formed by the union of right and left brachiocephalic veins which are in turn formed by the union of internal jugular and subclavian veins of corresponding side, draining the head and neck as well as the superior extremity.
 Aims and Objective: To evaluate the accuracy of persistent left superior vena cava and to find out the opening of PLSVC and formations of both SVC.
 Materials and Methods: During routine dissection of Thorax, we have opened the thoracic cage and take out the Heart. during that we found separate SVC and then we did the study on this PLSVC in the Department of Anatomy, Jaipur National University Institute for Medical Sciences and Research Centre (JNUIMSRC) Jaipur and National Institute of Medical Sciences and Research (NIMS & R).
 Results: We found persistent left superior vena cava in two cadavers out of 30 cadavers (6.66%) one was 64-year-old male cadaver and another 72-year-old male cadaver. Both the vena cavae were formed as of brachiocephalic veins of the corresponding side. The persistent left superior vena cava opened into the enlarged coronary sinus that drained into the right atrium between the opening of inferior vena cava and right atrio-ventricular orifice.
 Conclusion: It has important clinical implications in certain clinical interventions. It may complicate placementof cardiac catheters or pacemaker leads.

Outcomes of open and endovascular repair of Kommerell diverticulum

Abstract OBJECTIVES Kommerell diverticulum (KD) is a rare congenital vascular anomaly often associated with an aberrant subclavian artery (ASCA). Definitive indications for intervention remain unclear. We present open and endovascular (EV) operative outcomes in a large contemporary series and propose a management algorithm. METHODS Between 2004 and 2020, 224 patients presented with ASCA and associated KD to our institution. Of the 43 (19.2%) patients who underwent operative repair, 31 (72.1%) had open surgical (OS) repair via thoracotomy and 12 (27.9%) had EV repair. Univariable and bivariable statistical analyses were conducted stratified by approach. The median follow-up time was 5.4 years (IQR, 2.9–9.7). RESULTS Patients in EV group were older (68 years vs 47 years, P < 0.001) and had larger aneurysms (base diameter 3.2 cm vs 21.5 cm, P = 0.007). All patients with dysphagia lusoria were treated with open surgery (n = 20). Asymptomatic patients with incidentally detected KD (50% vs 16.1%), those with chest or back pain (50% vs 19.4%) and patients who presented with an aortic emergency (25% vs 6.5%) were more likely to be treated endovascularly (P = 0.001). Carotid-to-subclavian bypass was used in 38 (88.4%) patients. There were no operative mortalities. In-hospital mortality was similar between groups (3.2% vs 16.7%, P = 0.121). Mid-term mortality was higher in the EV group [4 (33.8%) vs 0, P < 0.001]. There were 2 (15.4%) postoperative strokes in the EV group. There were no statistically significant differences in other postoperative complications or hospital length of stay between groups. CONCLUSIONS KD can be managed using open or EV approaches with low morbidity and mortality. Treatment strategy should depend on clinical presentation and patient factors.

Absence of the celiac trunk and anomalous very low origin of the common hepatic artery arising independently from the abdominal aorta just above aortic bifurcation in patient undergoing radical pancreaticoduodenectomy

PurposeKnowledge of anomalies of the celiac trunk is very important during various surgical procedures (such as pancreatic and gastric resections including Appleby operation, liver resections and liver transplantations) and as well as radiologic procedures (such as chemoembolization of pancreatic and hepatic tumors).MethodsA 77-years-old woman was admitted to our department for surgical treatment of ampullary adenocarcinoma G2 confirmed in endoscopic retrograde cholangiopancreatography (ERCP) with papillotomy and ampullary biopsy. In the contrast-enhanced computed tomography, the ampullary tumor was not visible, but the main pancreatic duct within pancreatic head and isthmus was dilated (indirect radiological tumor signs). An absence of the celiac trunk (CT) was established via computed tomography. Therefore, computed tomography-based angiography (angio-CT) of the abdominal aorta (AA) was performed before operation.ResultsAngio-CT confirmed an extremely rare vascular anomaly: an absence of CT. The left gastric (LGA), splenic (SA), and common hepatic (CHA) arteries connected above origin of the superior mesenteric artery (SMA) from the AA. Pylorus-preserving pancreaticoduodenectomy (PD) was performed. This anomaly was also confirmed intraoperatively. The postoperative course was uneventful and the patient was discharged on postoperative day 10. There were no signs of recurrence of the tumor during the 6 months follow-up.ConclusionThe proper preoperative identification of anomalies within major abdominal vessels and its relationship to the tumor is very important to avoid intraoperative vascular injury and major postoperative complications.

Levoatriocardinal vein: A comprehensive interventional approach

Levoatriocardinal Vein (LACV) is a rare congenital vascular connection between the left atrium (or a pulmonary vein) and the cardinal venous system. This anomaly is usually associated with left-heart obstructive lesions allowing an adequate decompression of the left-sided heart. However, it may be found isolately or associated to congenital heart diseases without left-heart obstructive lesions. In these cases, the LACV develops a pre-tricuspid left-to-right shunt with consequent right-sided heart dilatation and pulmonary hypertension. The progresses of interventional cardiology allowed to develop various percutaneous strategies to approach these patients. The objective of this review is to highlight the role of interventional cardiology in this rare vascular anomaly and the various feasible strategy to adopt in order to the different settings: from the LACV stenting in the cases with associated left heart obstructive lesions up to the LACV embolization in the cases without associated congenital anomalies and with significant right-sided heart overload.

A rare and curable cause of cyanosis – Congenital portosystemic shunts

Congenital portosystemic shunts (CPSSs) are rare developmental vascular anomalies which are classified into extrahepatic and intrahepatic malformations. Here, we report a 7-year-old girl who presented with a history of progressive dyspnea, pandigital cyanosis, and clubbing. On evaluation, she was found to have a rare combination of both type II extrahepatic and intrahepatic portosystemic shunts which were closed endovascularly in the same setting. Diagnosis of CPSS needs a very high index of clinical suspicion. Timely diagnosis with specific imaging modalities will help in deciding the treatment strategy and may prevent long-term complications.

Incidental Finding of Complete Bilateral Persistent Sciatic Arteries

Persistence of bilateral sciatic arteries (PSA) is a rare congenital vascular anomaly. We report an exceptionally rare case of complete bilateral persistent sciatic arteries, diagnosed incidentally on computed tomography angiography (CTA) in a young female patient who sustained a gunshot wound to the lower limb. The embryology, variants, clinical and imaging findings, potential complications, and treatment options are discussed. PSAs, found incidentally, are unlikely to have clinical significance, however, the unusual anatomy and higher incidence of future complications requires accurate reporting of such variants.

Placental mesenchymal dysplasia and hepatic cyst

Placental mesenchymal dysplasia (PMD) is a rare benign vascular anomaly of the placenta. It can be misdiagnosed as a molar pregnancy resulting in unnecessary termination of pregnancy. A 30-year-old woman was referred to our hospital at 18 gestational weeks due to suspicion of molar pregnancy. The ultrasound showed a bulky placenta with multiple cysts. Oligohydramnion and fetal hypoechogenic cystic area without doppler flow were diagnosed at 23 weeks. The baby was operated on after delivery, and an 80 mm multifocal cyst originating from the right lobe of the liver was removed. The placenta demonstrated swelling stem villi with enlarged vessels and increased interstitial cells without trophoblast proliferation. PMD and fetal hepatic cyst can coexist; however, the relationship between those conditions remains to be elucidated. PMD is associated with adverse pregnancy outcomes but also with a good prognosis.

Dilated Accessory Hemiazygos Vein Mimicking Aortic Dissection in Setting of Absent Left Brachiocephalic Vein.

Although uncommon, aortic dissection can be rapidly fatal with a 20% out-of-hospital mortality which increases at a rate of 1 to 3% every hour [1]. An expeditious diagnosis of acute aortic dissection is therefore imperative. One of the most advantageous diagnostic modalities utilized in the setting of acute aortic dissection is a transesophageal echocardiogram (TEE). In an acute setting, TEE is preferred because of its ability to provide a timely and definitive diagnosis [2]. Despite its diagnostic convenience, clinicians must be aware that there are several entities that may mimic aortic dissection. One of these entities includes a dilated accessory hemiazygos vein. In this report, we present a case of a 66-year-old woman who was found to have a possible Stanford type B dissection in the descending thoracic aorta on a TEE exam in the context of work up prior to an elective electrophysiology study and ablation for paroxysmal atrial fibrillation. CT angiography, however, revealed a dilated accessory hemiazygos vein, a rare congenital vascular anomaly that could potentially mimic aortic dissection leading to misdiagnosis and potentially unnecessary interventions.

A case of successful surgical treatment of patient with rare vascular anomaly – hypoplasia of infrarenal abdominal aorta

Aim. To demonstrate a case of treatment of a patient with a rare vascular anomaly hypoplasia of infrarenal abdominal aorta.
 On a clinical example of female patient U., 41 years of age, with critical ischemia of the lower limbs and diagnosis hypoplasia of the abdominal aorta made on the basis of the clinical and instrumental data, the manifestations, diagnostics and potentials of the successful surgical treatment of the given pathology were demonstrated.
 Conclusion. Clinical manifestations of hypoplasia of the aorta depend on localization of the lesion and involvement of renal arteries. The commonest clinical sign is arterial hypertension and symptoms associated with the elevated arterial pressure. Hypoplasia of the aorta may also be manifested by hypertrophy of the upper limbs in combination with poor development of muscles of the lower limbs. More aged individuals present with arterial insufficiency leading to clinically significant ischemia of the lower limbs. Thus, in the case described, the patient already had ischemic trophic ulcers of the lower limbs. Without treatment, secondary arterial hypertension and cardiac failure may lead a patient to early death. Today, irrespective of the etiology, the only effective method of treatment of this disease is surgery. In case of our patient, resection of the hypoplastic segment of the aorta and its prosthetics were performed. This permitted to restore circulation in the lower parts of the body and further led to complete healing of trophic ulcers of the shin and to normalization of the systemic arterial pressure.