Vascular anomalies

This case concentrates on the persistent left superior vena cava (PLSVC), a rare vascular anomaly which contributes to central venous catheter (CVC) misplacement. A 72-year-old woman with renal insufficiency presented to the hospital with recurrent bleeding from her permanent CVC device placed in the right common jugular vein. An initial attempt to replace the device was unsuccessful, necessitating the placement of a secondary catheter in the left jugular vein. Shortly after the procedure, the patient developed swelling of the face and neck...

The azygos artery is an uncommon vascular variant of the anterior cerebral artery (ACA). This anomaly is associated in a high percentage with aneurysms. Management of azygos ACA aneurysms represents a surgical challenge. We present five patients who underwent microsurgical treatment for distal azygos ACA aneurysms with complex morphology. Four patients showed subarachnoid hemorrhage (SAH) and one complained of sentinel headache. Early preoperative digital subtraction angiography (DSA) or computerized tomography angiography (CTA) was performed...

BACKGROUND: Bilateral ductus arteriosus (BDA) is a relatively rare vascular malformation. According to the double arch theory, BDA is formed when the distal ends of the sixth pairs of primitive arches on the left and right sides have not regressed. We describe a fetus with prenatal echocardiographic findings of BDA and right aortic arch mirror-image branching (RAA-MIB) combined with congenital heart disease. Furthermore, to gain a deeper understanding of the embryological mechanism of BDA, we review the literature on all combinations of BDA present in 40 fetuses/infants...

The angioarchitecture of the hindbrain is homologous to that of the spinal cord, and its vascular system can be analyzed at the longitudinal and axial structures. During embryonic development, there are two main longitudinal arteries: the longitudinal neural artery and the primitive lateral basilovertebral anastomosis. Commonly observed variations are formed by the fenestration and duplication of either the vertebrobasilar artery, or cerebellar artery, which can be observed when the primitive lateral basilovertebral anastomosis partially persists...

This chapter outlines the cerebrovascular developmental anatomy with emphasis on the internal carotid artery(ICA), which is important for optimal endovascular treatment of cerebrovascular system disorders. Gene expression, neural crest cells, and pharyngeal arches play key roles in the embryonic development of the carotid arteries. Evolutionary inheritance in vertebrates contributes to the formation, regression, and segmental structure of these arteries. We present examples of current mutations with regard to their segmental nature; ICA mutations are discussed primarily with regard to their developmental origin from the first to third pharyngeal arches and the role of the ductus caroticus...

A right aortic arch and aberrant subclavian artery result from an interruption in the remodeling of the pharyngeal arch arteries. We occasionally encounter this anatomical variation during angiography. Patients with disorders such as Down syndrome and congenital heart disease show a high incidence of an aberrant right subclavian artery, and this anomaly can cause symptomatic esophageal or tracheal compression. The root of the aberrant artery may show dilatation(referred to as a Kommerell diverticulum), dissection, intramural hematoma, or rupture necessitating cardiac intervention using a surgical or endovascular approach...

Developmental venous anomalies (DVAs) are the most common vascular malformation detected on intracranial cross-sectional imaging. They are generally benign lesions thought to drain normal parenchyma. Spontaneous hemorrhages attributed to DVAs are rare and should be ascribed to associated cerebral cavernous malformations, flow-related shunts, or venous outflow obstruction. Contrast-enhanced MRI, susceptibility-weighted imaging, and high-field MRI are ideal tools for visualizing vessel connectivity and associated lesions...

Pulsatile tinnitus (PT) requires detailed workup to evaluate for an underlying structural cause. With advances in neuroimaging, structural venous abnormalities that can cause PT have becoming increasingly recognized. A number of anomalies, including dural arteriovenous fistulas, idiopathic intracranial hypertension, transverse sinus stenosis, sigmoid sinus wall abnormalities, jugular venous anomalies, and hypertrophied emissary veins, have been implicated in flow disruption and turbulence in the vicinity of auditory structures, resulting in PT...

BACKGROUND: Vascular anomalies caused by somatic (postzygotic) variants are clinically and genetically heterogeneous diseases with overlapping or distinct entities. The genetic knowledge in this field is rapidly growing, and genetic testing is now part of the diagnostic workup alongside the clinical, radiological and histopathological data. Nonetheless, access to genetic testing is still limited, and there is significant heterogeneity across the approaches used by the diagnostic laboratories, with direct consequences on test sensitivity and accuracy...

Pathogenic variants in NOTCH1 are associated with non-syndromic congenital heart disease (CHD) and Adams-Oliver syndrome (AOS). The clinical presentation of individuals with damaging NOTCH1 variants is characterized by variable expressivity and incomplete penetrance; however, data on systematic phenotypic characterization are limited. We report the genotype and phenotype of a cohort of 33 individuals (20 females, 13 males; median age 23.4 years, range 2.5-68.3 years) from 11 families with causative NOTCH1 variants (9 inherited, 2 de novo; 9 novel), ascertained from a proband with CHD...

Cavernous malformations (CMs) are rare, often oligosymptomatic vascular lesions. Common manifestations include seizures and focal neurological deficits. Depending on the symptoms, location, size, and risk factors of bleeding, such as the presence of a developmental venous anomaly, the injury can be highly morbid. Hence, one can consider surgical resection. Deep and eloquently located CMs, such as those located in the temporal trunk, can be quite challenging and require an exact operative technique.1-7 We present a 27-year-old patient with a history of headaches that began two years ago and significantly worsened in the last month, associated with visual blurring, scotomas, nausea, phonophobia, and photophobia as well as paresthesias in the hands and perioral region...

Introduction The aberrant right subclavian artery (ARSA), also called as lusorian artery (LA) is a developmental anomaly that exists in conjunction with a right non-recurrent laryngeal nerve (NRLN) in almost all cases. The average prevalence of such a vascular variation is estimated as 1%, although, studies have reported very different population means. Up to date, there is no available data on the frequency of this pattern in the Hungarian population. It can be treated as an indirect marker of a NRLN. Any preoperative information on the course of the inferior laryngeal nerves can help surgeons reduce the risk of an iatrogenic injury during thyroidectomies, especially in an environment where access to intraoperative neuromonitoring is limited...

We report the case of a fetus with a sonographic diagnosis of hyperechogenic cerebellum at 28 weeks' gestation, which was suspected to be of hemorrhagic origin on fetal ultrasound. As an adjunct to ultrasound, fetal MRI can confirm the hemorrhagic origin of hyperechogenic cerebellar lesions, particularly by showing a high signal on T1-weighted images. No etiological factors for fetal hemorrhage were found other than maternal hypertension and aspirin use. Postnatal MRI confirmed the prenatal diagnosis of cerebellar hemorrhage without underlying vascular anomaly...

Cobb syndrome is a rare neurocutaneous disease characterized by multiple spinal vascular anomalies and vascular skin lesions affecting the corresponding dermatome. We present a case of a 12-year-old boy with history of spinal arteriovenous malformation (AVM) extending from T4-T5 status post partial embolization 3 years ago and hyperpigmented patch overlying his thoracic back region presenting with 2 days of back pain and lower extremity numbness and weakness. He had multiple Type III AVMs within the spinal and paraspinal tissues involving the T4-T7 vertebral elements, most extensively T4 and T5...

The management of choroidal neovascularization (CNVM) in pregnant young females has been a lacuna due to the rarity of the condition as well as the non-availability of comprehensive data to showcase the efficacy of currently available treatment regimes in order to achieve a positive outcome for both the growing fetus as well the patient herself. In a review of available literature, the condition has been treated with anti-vascular endothelial growth factors (anti-VEGF), laser photocoagulation, and intravitreal dexamethasone implants (IDI), with varied results ranging from the successful outcome in terms of pregnancy to abortions...

Introduction A double aortic arch (DAA) is a rare congenital vascular anomaly that encircles the trachea and esophagus, resulting in compression of both structures and causing variable symptoms of wheezing, stridor, increased work of breathing, or dysphagia. DAA usually presents in infancy but can be incidentally found later in life. The standard management of DAA is surgical repair. However, observation and follow-up have been recommended in asymptomatic or mild cases. The long-term outcome of surgical repair versus observation is not well-reported...

Variations in the arch of the aorta and aortic valves among fetal, cadaveric, and post-mortem specimens present a spectrum of anatomical configurations, posing challenges in establishing a standard norm. While some variations hold surgical significance, many bear little functional consequence but provide insights into embryological origins. The aortic arch exhibits diverse branching patterns, including common trunks and different orders, relevant for endovascular surgeries. Meanwhile, malformations in the aortic valve, affecting the aorta, may lead to ischemia and cerebral infarction, warranting understanding of coexisting arch and valve anomalies to predict complications like aortic dissection...

BACKGROUND: Single atrium is very rare congenital cardiac anomaly in adults. The prognosis of patients with single atrium is very poor, with 50% of patients dying owing to cardiopulmonary complications in childhood. Herein, we focused on anesthesia management for noncardiac surgery in patients with single atrium. CASE PRESENTATION: A 58-year-old male with a history of bilateral varicocele underwent laparotomy for high-position ligation of the spermatic vein. The patient also had a history of single atrium, atrial fibrillation, chronic heart failure, pulmonary hypertension (PH), and complete right bundle branch block (CRBBB)...

High-resolution, isotropic, 3-dimensional (D) data from pediatric cardiovascular computed tomography (CT) offer great potential for the accurate quantitative evaluation of pediatric cardiovascular and pulmonary vascular diseases. Recent pilot studies using pediatric 3-D cardiovascular CT have shown promising results in assessing cardiac function in conditions such as tetralogy of Fallot, cardiac defects with a hypoplastic ventricle, Ebstein anomaly, and in quantifying myocardial mass. In addition, the quantitative assessment of pulmonary vascularity is useful for evaluating differential right-to-left pulmonary vascular volume ratio, the effectiveness of pulmonary angioplasty, and predicting pulmonary hypertension...

The duplicated origin of the vertebral artery (VA) is an uncommon anatomical variant, which is generally identified incidentally during angiography and can be misdiagnosed as dissection in the setting of posterior circulation stroke. Here, we describe a case of the right V1 VA duplication with embryological aspects in a patient with Klippel-Feil anomaly, which was diagnosed during preoperative evaluation. Surgeons must be aware to avoid vascular injury from a duplicated VA before head-neck and spinal surgery...