Rare Vascular Anomaly Research Articles

Clinical characteristics of blue rubber bleb nevus syndrome in adults: systematic scoping review

Background Blue rubber bleb nevus syndrome (BRBNS) is a rare systemic vascular anomaly mainly affecting the skin, central nervous system and gastrointestinal tracts. Its clinical presentation and characteristics in adult patients are unclear. Aim To clarify the characteristics of BRBNS in adult patients with a focus on gastrointestinal symptoms. Methods Following the PRISMA Extension for Scoping Reviews, we searched MEDLINE and EMBASE for all peer-reviewed articles using keywords including ‘Blue rubber bleb nevus syndrome’ from their inception to 28 December 2021. Results Ninety-nine articles, including 3 observational studies and 101 cases from case reports and series, were included. Observational studies were consistently with small sample sizes, and there was only one prospective study to show the effectiveness of sirolimus in BRBNS. Common clinical presentations included anemia (50.5%) and melena (26.5%). While skin findings were known to be representative of BRBNS, only 57.4% had known vascular malformation. The diagnosis was primarily made clinically, with only 1% being diagnosed with BRBNS through genetic sequencing. Distribution of BRBNS-related lesions were variable, but predominantly oral (55.9%), followed by small bowel (49.5%), colorectal (35.6%) and stomach (26.7%) vascular malformations. Conclusion While it has been underrecognized, adult BRBNS could be a culprit for refractory microcytic anemia or occult gastrointestinal bleeding. Further studies are critical to establish a uniform understanding of diagnosis and treatment for those with adult BRBNS. The utility of genetic testing in adult BRBNS diagnosis and the patient characteristics that may benefit from sirolimus, a potentially curative agent, remain to be clarified.

Extra-axial Endoscopic Third Ventriculostomy: A Novel Treatment for Managing Hydrocephalus Due to Vertebrobasilar Dolichoectasia

Vertebrobasilar dolichoectasia, a rare vascular anomaly, rarely presents with hydrocephalus. The traditional treatment for hydrocephalus is a ventriculoperitoneal shunt. Conventional endoscopic third ventriculostomy can avoid shunt-related complications but is considered risky due to the presence of the dolichoectatic vessel. A subfrontal extra-axial fenestration of the lamina terminalis can circumvent this anatomic constraint and establish cerebrospinal fluid communication between the third ventricle and subarachnoid space. We performed an extra-axial endoscopic third ventriculostomy to manage hydrocephalus due to vertebrobasilar dolichoectasia in a 26-year-old male. The clinical description, surgical technique, outcome, and rationale are described. The patient had symptomatic improvement in his headaches and vision. There was also improvement in the postoperative ventricular indices: Evans index-19% reduction, frontal occipital horn ratio-14.1% reduction, and third ventricle index-39.5% reduction. A cine-phase magnetic resonance image showed cerebrospinal fluid flow void through the lamina terminalis fenestration, suggesting patency. Extra-axial endoscopic third ventriculostomy may be a suitable treatment alternative to circumvent anatomic constraints produced by vertebrobasilar dolichoectasia in performing conventional endoscopic third ventriculostomy.

Sinus pericranii in the setting of a posterior fossa pilocytic astrocytoma: illustrative case.

Sinus pericranii (SP) is a rare vascular anomaly, with an uncertain etiology. Often discovered as superficial lesions, they can be primary or secondary in nature. Herein, we report a rare case of SP in the setting of a large posterior fossa pilocytic astrocytoma associated with a significant venous network. A 12-year-old male presented with acute clinical deterioration in extremis with a 2-month history of lethargy and headaches. Outside plain computed tomography imaging revealed a large posterior fossa cystic lesion, probably a tumor, with severe hydrocephalus. There was also a midline small skull defect at the opisthocranion, without visible vascular anomalies. An external ventricular drain was placed with rapid recovery. Contrast imaging revealed a large midline SP emanating from occipital bone with a large intraosseous, and subcutaneous venous plexus in the midline draining inferiorly into venous plexus around the craniocervical junction. A posterior fossa craniotomy without contrast imaging could have resulted in catastrophic hemorrhage. A small modified off-center craniotomy provided access to the tumor with a gross total excision. SP is a rare but significant phenomenon. Its presence does not necessarily preclude resection of underlying tumors, provided that a careful preoperative assessment of the venous anomaly is undertaken.

Characteristics, Natural Course and Treatment of Intramuscular Capillary-type Haemangioma: A Systematic Literature Review

Intramuscular capillary-type haemangiomas (ICTH) are rare vascular anomalies that can easily be misdiagnosed as other entities. A systematic review was performed of all cases of ICTH in the literature since its first description in 1972. An adjudication committee reviewed cases to include only ICTHs. Among 1,143 reports screened, 43 were included, involving 75 patients. The most frequent differential diagnosis was intramuscular venous malformations. The mean age of patients at diagnosis was 21.2 years. ICTH was mainly described as a gradually increasing mass (81.8%), painless (73.9%), that could occur anywhere in the body but most frequently on the head and neck (44.0%). Magnetic resonance imaging (MRI) was mainly used for diagnosis (69.1%) and displayed specific features. The most frequent treatment was complete surgical removal (73.9%), which could be preceded by embolization, and led to complete remission without recurrence in all but 1 case.

Isolated Left Subclavian Artery Associated with Right Aortic Arch: A Case Report

An 18-day-old infant with a rare vascular anomaly characterized by an isolated left subclavian artery (ILSA) and a right aortic arch presented with respiratory distress. To gain a deeper understanding of this unusual combination, a literature review was conducted.

Endovascular laser ablation management of pediatric Klippel trenaunay syndrome: a case report

Introduction: Klippel trenaunay syndrome (KTS) is a rare and complex congenital vascular anomaly as a combination of vascular capillary malformations (port wine stain), venous malformations (VM) and excessive extremity growth with or without lymphatic malformations. The incident KTS is estimated to be 2 to 5 per 100,000 and found in the male gender without distinguishing race. This syndrome is rare, with a low incidence. Klippel trenaunay syndrome uses conservative management with the use of compression stockings. Other KTS management, such as minimally invasive intervention with endovascular laser ablation (EVLA) therapy, is rarely used due to the rare number of diseases. Thus, this study aims to perform the management of KTS in pediatrics. Case description: We report 11-year-old girls complaining of pain and swelling on the right leg when standing long and doing activities. Physical examination appears to show a purplish-red birthmark that arises on the surface of the skin. Ultrasound and CT scan angiography with contrast in the lower region extremities showed hypertrophy accompanied by peripheral branches in the cutaneous layer. Patients are performed endovascular laser ablation using general anesthesia. After endovascular laser ablation, the patient was treated for 2 days without any complaints. Conclusion: KTS is a rare, complex and varied syndrome that has not been found yet. KTS only performs symptomatic treatment depending on clinical and severity. Endovascular laser ablation is a minimally invasive intervention management that must be considered and has a fairly low risk and complication, especially in pediatrics.

A rare occurrence of an incidental primary intra-abdominal Cystic Lymphangioma in a Middle Eastern adult female: A case report.

The authors hereby demonstrate the case of a 46-year-old lady who presented to the outpatient general surgery clinic at our university hospital complaining of chronic right hypochondriac abdominal pain. Investigative radiological imaging marked a cystic formation with well-defined borders and homogenous content extending from the lower pole of the right kidney to the lower hepatic border. Surgical intervention was performed by completely resecting the lesion in question. Directly afterward, histopathological analysis was achieved and established the diagnosis of a CL.Conclusion:CL is a rare neoplasm with ill-defined symptoms and ambiguous clinical presentations. They remain poorly studied due to their rarity and lack of sufficient data in the published literature. This magnifies the importance of clinical awareness and time-efficient surgical intervention. Documenting these cases aids in identifying their subsequent etiological origins, disease-specific risk factors, clinical course, and yields proposals of novel therapeutic approaches.

Progressive Dysphagia and Chronic Abdominal Pain From Vascular Anomalies: A Case Report and Literature Review.

Median arcuate ligament syndrome and symptomatic aberrant right subclavian artery are uncommon in the pediatric population and are rarely found in the same individual. We present the case of a teenager with 2 rare vascular anomalies leading to chronic postprandial abdominal pain, dysphagia, and weight loss. The purpose of this case report is to raise awareness about these rare anomalies and their presentations in the pediatric population.

Endovascular embolization of idiopathic renal arteriovenous fistula – A case report and literature review

Idiopathic renal arteriovenous fistulas (RAVFs) are rare vascular anomalies with no identifiable etiology. We present a case of 65-year-female who was being evaluated for complaints of the right flank pain and dysuria with no past history of trauma or surgery. Computed tomography showed arteriovenous fistula in lower pole of the right kidney with dilated branch of the right renal artery and dilated venous sacs. The patient was planned for endovascular embolization. Right renal angiogram showed dilated lower polar artery with a single-hole arteriovenous fistula. Selective coil embolization of the arterial channel was done. Post-deployment angiogram showed complete occlusion of the fistula and normal opacification of remaining segmental branches. On follow-up 1-month later, the patient was in good general condition. With advancements in endovascular techniques, transcatheter embolization has become initial treatment of choice for managing RAVF due to its less incidence for complications and preservation of renal function.

Contemporary outcomes after treatment of aberrant subclavian artery and Kommerell's diverticulum

ObjectiveAberrant subclavian artery (ASA) and Kommerell's diverticulum (KD) are rare vascular anomalies that may be associated with lifestyle-limiting and life-threatening complications. The aim of this study is to report contemporary outcomes after invasive treatment of ASA/KD using a large international dataset. MethodsPatients who underwent treatment for ASA/KD (2000-2020) were identified through the Vascular Low Frequency Disease Consortium, a multi-institutional collaboration to investigate uncommon vascular disorders. We report the early and mid-term clinical outcomes including stroke and mortality, technical success, and other operative outcomes including reintervention rates, patency, and endoleak. ResultsOverall, 285 patients were identified during the study period. The mean patient age was 57 years; 47% were female and 68% presented with symptoms. A right-sided arch was present in 23%. The mean KD diameter was 47.4 mm (range, 13.0-108.0 mm). The most common indication for treatment was symptoms (59%), followed by aneurysm size (38%). The most common symptom reported was dysphagia (44%). A ruptured KD was treated in 4.2% of cases, with a mean diameter of 43.9 mm (range, 18.0-100.0 mm). An open procedure was performed in 101 cases (36%); the most common approach was ASA ligation with subclavian transposition. An endovascular or hybrid approach was performed in 184 patients (64%); the most common approach was thoracic endograft and carotid-subclavian bypass. A staged operative strategy was employed more often than single setting repair (55% vs 45%). Compared with endovascular or hybrid approach, those in the open procedure group were more likely to be younger (49 years vs 61 years; P < .0001), female (64% vs 36%; P < .0001), and symptomatic (85% vs 59%; P < .0001). Complete or partial symptomatic relief at 1 year after intervention was 82.6%. There was no association between modality of treatment and symptom relief (open 87.2% vs endovascular or hybrid approach 78.9%; P = .13). After the intervention, 11 subclavian occlusions (4.5%) occurred; 3 were successfully thrombectomized resulting in a primary and secondary patency of 95% and 96%, respectively, at a median follow-up of 39 months. Among the 33 reinterventions (12%), the majority were performed for endoleak (36%), and more reinterventions occurred in the endovascular or hybrid approach than open procedure group (15% vs 6%; P = .02). The overall survival rate was 87.3% at a median follow-up of 41 months. The 30-day stroke and death rates were 4.2% and 4.9%, respectively. Urgent or emergent presentation was independently associated with increased risk of 30-day mortality (odds ratio [OR], 19.8; 95% confidence interval [CI], 3.3-116.6), overall mortality (OR, 3.6; 95% CI, 1.2-11.2) and intraoperative complications (OR, 8.3; 95% CI, 2.8-25.1). Females had a higher risk of reintervention (OR, 2.6; 95% CI, 1.0-6.5). At an aneurysm size of 44.4 mm, receiver operator characteristic curve analysis suggested that 60% of patients would have symptoms. ConclusionsTreatment of ASA/KD can be performed safely with low rates of mortality, stroke and reintervention and high rates of symptomatic relief, regardless of the repair strategy. Symptomatic and urgent operations were associated with worse outcomes in general, and female gender was associated with a higher likelihood of reintervention. Given the worse overall outcomes when symptomatic and the inherent risk of rupture, consideration of repair at 40 mm is reasonable in most patients. ASA/KD can be repaired in asymptomatic patients with excellent outcomes and young healthy patients may be considered better candidates for open approaches versus endovascular or hybrid modalities, given the lower likelihood of reintervention and lower early mortality rate.

Uneventful Cochlear Implantation through Round Window Approach in a Child with Persistent Stapedial Artery: A Case Report

Persistent stapedial artery (PSA) is a rare congenital vascular anomaly, with both clinical and surgical implications. When encountered during middle ear surgery, it represents a challenge to the otologic surgeon, since damage to this artery could lead to massive intraoperative bleeding and poor surgical exposure. Here we report the case of a 3-year-old boy with prelingual and profound bilateral sensorineural hearing loss who was referred to our Otolaryngology-Head and Neck Surgery Department for cochlear implant evaluation. Pre-operative computed tomography (CT) examination of the temporal bone confirmed the diagnosis of PSA. Further evaluation showed no contraindication for surgery and the patient underwent cochlear implantation using the classic transmastoid, facial recess approach. During surgery the vessel was coursing far enough from the round window niche, making it possible to achieve safe and complete electrode insertion into the scala tympani of the cochlear basal turn. This case demonstrates that cochlear implantation is safe and feasible in patients with PSA. Thorough analysis of the preoperative temporal bone CT scan might help with surgical planning by identifying this anomaly prior to surgery.

A Rare Aortic Arch Anomaly: Combination of Vertebral Arteria Lusoria with Kommerell’s Diverticulum, Bovine Aortic Arch, and Left Vertebral Artery with Extreme Proximal Origin

Vertebral arteria lusoria (VAL), defined as the right vertebral artery (VA) originating from the aortic arch distally to the left subclavian artery (SCA) and progressing retroesophageally, is a rare vascular anomaly. This anomaly is rarely associated with abnormalities such as aortic coarctation, Bovine aortic arch, and Kommerell’s diverticulum. It is uncommon for VAs to originate from the SCA below the level of the 1st rib. To our knowledge, no instance of VAL has been described, in which the left VA originates from the SCA below the first rib. We aimed to present computed tomography findings in a patient with VAL, Kommerell’s diverticulum, Bovine aortic arch, and a left VA with the extreme proximal origin, which could be also defined as “vertebrosubclavian trunk,” in this case report.

A Retrospective Study on Whole Blood Monitoring of Sirolimus for Chinese Children with Rare Vascular Anomalies in Real-World Clinical Practice

A Retrospective Study on Whole Blood Monitoring of Sirolimus for Chinese Children with Rare Vascular Anomalies in Real-World Clinical Practice

Symptoms: Purple Ear Drum and Hearing Loss

Symptoms: Purple Ear Drum and Hearing Loss

463 WOVEN CORONARY ARTERY AN INCIDENTAL FINDING

Abstract Introduction Woven coronary artery is a rare congenital vascular anomaly, namely a coronary segment divided into many independent thin channels, which intertwine around the coronary axis for several centimeters, and then re-anastomose distally in a single lumen. The etiology of woven coronary arteries is unknown; however, it is commonly considered a benign condition which only rarely results into myocardial ischemia and acute coronary events Clinical case A 47-year-old man, with history of hypertension and drug addiction, presented to the emergency department due to dyspnea (NYHA IV). The chest x-ray showed bilateral pneumonia with pleural effusion, and depressed left ventricular ejection fraction of 32% with antero-lateral ipokinesia and moderate mitral regurgitation was shown at echocardiography. The electrocardiogram showed right bundle branch block. Troponin levels were elevated, denoting myocardial injury and possibly an acute coronary syndrome; therefore the patient was referred to invasive coronary angiography. The coronary angiogram showed the aspect of“woven coronary artery” both in the right (more frequent) and in the circumflex coronary (Figure 1). As in this case, woven coronary is usually incidentally diagnosed during coronary angiography, in fact the anomaly could not explain this clinical scenario. Sometimes woven coronary can be confounded with dissections, recanalized thrombus and chronic total occlusion with bridging collaterals. In the current case the vessels presented a thrombolysis in myocardial infarction (TIMI) flow grade 3 and there was no coronary occlusion; moreover, the simultaneous multivessel presence of this suggestive angiographic aspect makes the hypothesis of a congenital anomaly more likely. Conclusion Woven coronary artery is a rare vascular anomaly, usually benign. Intravascular imaging, which was not performed in this case, may be helpful in equivocal circumstances to avoid unnecessary and potentially high-risk percutaneous coronary intervention.

Placental mesenchymal dysplasia- A case report

Placental mesenchymal dysplasia is an underdiagnosed and a rare vascular anomaly of the placenta. It is characterized by the presence of grape-like vesicles, which, on ultrasonography gives the appearance of a partial mole. Histologically it can be differentiated by partial mole by the absence of trophoblastic proliferation. It is essential to make a correct diagnosis as the management and outcome of both these entities are vastly different. We present this case of placental mesenchymal dysplasia, not just because of its rarity but to highlight its radiological, gross and histopathological features to keep it in mind as a differential diagnosis and in making the correct diagnosis.

Persistent sciatic vein.

Venous anomalies of the lower extremity are a challenge when found as rare variations. Physicians should be aware of morphological variations in this region for correct diagnosis and management of diseases such as deep vein thrombosis. During the routine dissection of the lower extremities of a Caucasian male cadaver, a case of persistent sciatic vein was found. A persistent sciatic vein originating from the saphenopopliteal junction coursed proximally and laterally to enter into the adductor magnus muscle, at the right side. Running through the fibres of the adductor magnus anteriorly, the variant vein drained into the deep femoral vein just medial to the vastus medialis muscle. As being a rare congenital vascular anomaly, the persistent sciatic vein should be correctly diagnosed and defined during the radiologic assessments, surgical interventions and blockades for better outcomes and lesser complications.

Rare variation: the absence of both the celiac trunk artery and the common hepatic artery

BackgroundKnowledge of celiac trunk anatomy is important in gastrointestinal surgery, hepatopancreatobiliary surgery, transplantation and interventional radiology. Variations in the celiac trunk are common and should be predicted prior to these interventions.MethodsA 58-year-old woman was admitted to our department for surgical treatment of gastric cancer (GC) confirmed by gastroduodenoscopy and gastric antrum biopsy. In the contrast-enhanced computed tomography (CT), we found an absence of both the celiac trunk artery (CA) and the common hepatic artery (CHA). Therefore, we used computerized three-dimensional (3D) vascular reconstruction technology to reconstruct the abdominal trunk and its branch vessels before operation.ResultsComputerized 3D vascular reconstruction confirmed an extremely rare vascular anomaly: the absence of both CA and CHA. The splenic artery (SA) and gastroduodenal artery (GDA) originated from the abdominal aorta (AA). The left gastric artery (LGA) originated from the AA directly above the junction of SA and the GDA. The left hepatic artery (LHA) originated from the left gastric artery (LGA). The right hepatic artery (RHA) originated from the superior mesenteric artery (SMA). Laparoscopic radical resection of GC was performed. This anomaly was also confirmed intraoperatively. This patient was discharged on the 10th day after surgery without any postoperative complication. There were no signs of tumor recurrence during the 6-month follow-up.ConclusionCorrect identification of abnormal abdominal large blood vessels and their relationship with tumors before surgery is of great significance to avoid intraoperative blood vessel damage, major postoperative complications and the missing of lymph node dissection.

Congenital coronary artery-left ventricular multiple micro-fistulas and hypertrophic cardiomyopathy: a case report and literature review

BackgroundCoronary artery-left ventricular multiple micro-fistulas (CA-LVMMFs) is a rare congenital vascular anomaly that may present with no obvious clinical symptoms or a typical angina attack. CA-LVMMFs is usually found unexpectedly during coronary angiography (CAG).Case presentationWe report a case of a 65-year-old man admitted to the hospital with acute coronary syndrome. CA-LVMMFs was found during coronary angiography. Echocardiography showed apical hypertrophy and blood flow signals were seen in the apical myocardium, connected with the left ventricle. We searched the MEDLINE database and found 39 relevant reports. We made statistics on the clinical characteristics of these patients and found half involved hypertrophy or perfusion defects in the ventricular septum or apex.ConclusionAs a rare congenital anomaly, the effect of CA-LVMMFs on patients is unclear. By reporting a case and summarizing literature reports, we found that CA-LVMMFs may be associated with myocardial hypertrophy, especially ventricular septal and apical hypertrophy.

Abstract 15617: Severe Heart Failure: Fistulous Connection Between Ectatic Left Anterior Descending Artery, Coronary Sinus, and Left Ventricular Cavity

Introduction: Arteriovenous coronary fistula of LAD to the coronary sinus is a rare vascular anomaly present in 0.002% of the general population. We report a rare case of fistulous connection between exceptionally large LAD and coronary sinus into the LV cavity leading to severe systolic heart failure. Case: A 39-year-old male with no past medical history presented to the ED with complaints of dyspnea, chest pain and lower extremity edema for the past 3 months. The chest pain was substernal, squeezing, non-radiating, 2/10 in intensity, exacerbated by exertion and alleviated with rest. The patient did not have any cardiology work up in the past. Vitals were stable. The patient had irregular rhythm with prominent JVD and bilateral lower extremity edema on examination. Troponins were negative, BNP was elevated and thyroid function was normal. Chest x-ray showed cardiomegaly. EKG showed atrial fibrillation with no significant ST segment changes or Q waves. Echocardiogram showed severe systolic left ventricular dysfunction with an ejection fraction of 15-20% and moderate to severe secondary mitral regurgitation. Cardiac catheterization showed large ectatic LAD with mild stenosis in mid segment. An abnormal connection was noted between LAD and coronary sinus draining directly into the left ventricle. He was discharged on guideline directed medical therapy for heart failure. Discussion: Fistula between LAD, coronary sinus and LV cavity is a unique organic heart disease. Our patient presented with heart failure with no apparent identifiable cause. On angiography an ectatic LAD was connected to the coronary sinus and LV cavity which created a high output state on the LV. The management of this rare pathology is complex due to variable presentation and lack of specific treatment guidelines. Careful selection of certain cases for therapeutic intervention can result in better outcomes than medical therapy alone.