Anomalies Of Vessels Research Articles

Anatomical anomalies and variations of main thoracic vessels in dogs: a computed tomography study

IntroductionThere is scarce information about the prevalence of anomalies and anatomical variations of the main great thoracic vessels in dogs, particularly in dogs without congenital heart disease. AnimalsThe study included 878 privately owned dogs. Material and methodsComputerized tomography (CT) thoracic studies carried out between 2011 and 2014 for a variety of reasons were reviewed. The prevalence of anomalies and anatomical variations of the aorta and vena cava, the arterial branches of the aortic arch and the main branches of the intrathoracic veins in dogs with no evidence of congenital heart disease was evaluated. Poor-quality CTs, CTs with thoracic pathology that impaired visualization or those of young dogs with clinical evidence or suspicion of congenital cardiac disease were excluded. ResultsEight hundred two CT studies were analysed. Eight dogs (1%) showed an anatomic anomaly. The most common anomaly was an aberrant retroesophageal right subclavian artery (n = 7, 0.8%). One dog showed a dilated azygos vein secondary to an interrupted vena cava. Three types of branching of the common carotid arteries were observed: both arteries arising at the same point (type I: n = 506/742; 68.2%), separated (type II: n = 212/742; 28.6%) or from a common trunk (type III: n = 24/742; 3.2%). ConclusionsMajor anatomical variations or anomalies of the main great thoracic vessels in dogs without congenital cardiac disease were rare. An aberrant retroesophageal right subclavian artery was the most common anomaly found. Three slight variations of common carotid artery branching were identified. These findings might be of relevance for surgical or catheterization procedures.

Полиморфизм клинической картины при прогрессирующем течении ишемического инсульта

Целью настоящего исследование явилось изучение влияния стенозирующего и окклюзирующего процесса на формирование ишемического инсульта и особенности их клинического течения. Нами всего обследованы 633 больных в возрасте от 45 до 74 лет (средний возраст 61 лет). У 578 (91,4%) больных при первичном измерении были повышенное артериальное давление. У 219 (92,4%) из 237 умерших макроскопически на здоровой стороне были выявлены стенозирующие и окклюзирующие процессы вызывая хроническую ишемию и инфаркта мозга (ИМ). Указанные патологии и аномалии сосудов в “здоровом” полушарии выявлены в 198 (83,5%) случаях, т.е. по отношению пораженному полушарию в 5 раз чаще. Поэтому неврологические синдромы не всегда укладываются в рамки привычных, классических течений ИМ, т. е. наблюдался полиморфизм и прогрессирующее течение инсульта вплоть до тяжелой утраты функций органов и летального исхода.

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.

BACKGROUND: Sporadic vascular malformations (VMs) are complex congenital anomalies of blood vessels that lead to stroke, life-threatening bleeds, disfigurement, overgrowth, and/or pain. Therapeutic options are severely limited, and multidisciplinary management remains challenging, particularly for high-flow arteriovenous malformations (AVM). METHODS: To investigate the pathogenesis of sporadic intracranial and extracranial VMs in 160 children in which known genetic causes had been excluded, we sequenced DNA from affected tissue and optimized analysis for detection of low mutant allele frequency. RESULTS: We discovered multiple mosaic-activating variants in 4 genes of the RAS/MAPK pathway, KRAS, NRAS, BRAF, and MAP2K1, a pathway commonly activated in cancer and responsible for the germline RAS-opathies. These variants were more frequent in high-flow than low-flow VMs. In vitro characterization and 2 transgenic zebrafish AVM models that recapitulated the human phenotype validated the pathogenesis of the mutant alleles. Importantly, treatment of AVM-BRAF mutant zebrafish with the BRAF inhibitor vemurafinib restored blood flow in AVM. CONCLUSION: Our findings uncover a major cause of sporadic VMs of different clinical types and thereby offer the potential of personalized medical treatment by repurposing existing licensed cancer therapies.

Common atrium and the associated malformations: Evaluation by low-dose dual-source computed tomography.

Common atrium (CA) is a rare complex congenital heart disease. The studies of CA are mostly case reports, while few have been done regarding its morphological characteristics. We aimed to determine CA characteristics and diagnostic accuracy in assessing associated malformations in these patients with low-dose dual-source computed tomography (DSCT).Twenty-one pediatric and adolescent CA patients underwent low-dose DSCT. Different ventricular types and associated malformations were assessed. The diagnostic accuracy of DSCT and transthoracic echocardiography (TTE) in evaluating associated malformations were assessed. The effective doses of DSCT were calculated.Patients (n = 21) were divided into CA with biventricular physiology (n = 7) and CA with single ventricle (SV) (n = 14). There were 3 types of SV morphology: single left ventricle (n = 5), single right ventricle (n = 6), and undifferentiated ventricle (n = 3). In all, 22 associated malformations were seen in CA and 56 in CA with SV. DSCT was superior to TTE for detecting intracardiac anomalies (sensitivity: DSCT, 92.31% vs TTE, 76.92%), great vessels anomalies (sensitivity: DSCT, 100.00% vs TTE, 77.50%), and of collateral vessels (sensitivity: DSCT, 100% vs TTE, 20.00%). The estimated mean effective dose was 0.95 ± 0.44 mSv (<1 mSv).This study indicated that low-dose DSCT is an ideal alternative for pediatric and adolescent patients with CA, providing morphological details of CA and associated malformations with high accuracy.

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.

BACKGROUND. Sporadic vascular malformations (VMs) are complex congenital anomalies of blood vessels that lead to stroke, life-threatening bleeds, disfigurement, overgrowth, and/or pain. Therapeutic options are severely limited, and multidisciplinary management remains challenging, particularly for high-flow arteriovenous malformations (AVM).METHODS. To investigate the pathogenesis of sporadic intracranial and extracranial VMs in 160 children in which known genetic causes had been excluded, we sequenced DNA from affected tissue and optimized analysis for detection of low mutant allele frequency.RESULTS. We discovered multiple mosaic-activating variants in 4 genes of the RAS/MAPK pathway, KRAS, NRAS, BRAF, and MAP2K1, a pathway commonly activated in cancer and responsible for the germline RAS-opathies. These variants were more frequent in high-flow than low-flow VMs. In vitro characterization and 2 transgenic zebrafish AVM models that recapitulated the human phenotype validated the pathogenesis of the mutant alleles. Importantly, treatment of AVM-BRAF mutant zebrafish with the BRAF inhibitor vemurafinib restored blood flow in AVM.CONCLUSION. Our findings uncover a major cause of sporadic VMs of different clinical types and thereby offer the potential of personalized medical treatment by repurposing existing licensed cancer therapies.FUNDING. This work was funded or supported by grants from the AVM Butterfly Charity, the Wellcome Trust (UK), the Medical Research Council (UK), the UK National Institute for Health Research, the L’Oreal-Melanoma Research Alliance, the European Research Council, and the National Human Genome Research Institute (US).

A new type of hyperplastic anterior choroidal artery

Hyperplastic anomaly of the anterior choroidal artery (hyperplastic AchA) and posterior communicating artery of duplicate origin (duplicated Pcom) are rare vessel anomalies. With some literature review, we here report three cases of hyperplastic AchA, one of which was considered a new type of hyperplastic AchA. This case was not categorized into Takahashi classification.

Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.

See Meschia (doi:10.1093/brain/awy066) for a scientific commentary on this article.Vein of Galen aneurysmal malformation is a congenital anomaly of the cerebral vasculature representing 30% of all paediatric vascular malformations. We conducted whole exome sequencing in 19 unrelated patients presenting this malformation and subsequently screened candidate genes in a cohort of 32 additional patients using either targeted exome or Sanger sequencing. In a cohort of 51 patients, we found five affected individuals with heterozygous mutations in EPHB4 including de novo frameshift (p.His191Alafs*32) or inherited deleterious splice or missense mutations predicted to be pathogenic by in silico tools. Knockdown of ephb4 in zebrafish embryos leads to specific anomalies of dorsal cranial vessels including the dorsal longitudinal vein, which is the orthologue of the median prosencephalic vein and the embryonic precursor of the vein of Galen. This model allowed us to investigate EPHB4 loss-of-function mutations in this disease by the ability to rescue the brain vascular defect in knockdown zebrafish co-injected with wild-type, but not truncated EPHB4, mimicking the p.His191Alafs mutation. Our data showed that in both species, loss of function mutations of EPHB4 result in specific and similar brain vascular development anomalies. Recently, EPHB4 germline mutations have been reported in non-immune hydrops fetalis and in cutaneous capillary malformation-arteriovenous malformation. Here, we show that EPHB4 mutations are also responsible for vein of Galen aneurysmal malformation, indicating that heterozygous germline mutations of EPHB4 result in a large clinical spectrum. The identification of EPHB4 pathogenic mutations in patients presenting capillary malformation or vein of Galen aneurysmal malformation should lead to careful follow-up of pregnancy of carriers for early detection of anomaly of the cerebral vasculature in order to propose optimal neonatal care. Endovascular embolization indeed greatly improved the prognosis of patients.

Unusual Combination Of Vascular Variations In The Retroperitoneal Region. A Morphological Study

Background: Blood supply of kidney and gonads is characterized by the presence of variations, which are usually silent and unnoticed until they are found by retroperitoneal surgery, radiologic examination or necropsy. Multiple renal vessels are no longer relative contraindication for laparoscopic donor nephrectomy, however of their presence may help avoid possible complication on a patient with these variations. The purpose of this morphological study was to analyze the frequency of supernumerary renal and testicular vessels and describe an unusual combination of vascular variations in the retroperitoneal region.&#x0D; Methods and Findings: A total of 18 cadavers with different age group and 10 visceral blocks were used for the study in the Morphology Laboratory of the University of Pamplona. Multiple anatomical variations bilateral of testicular vessels and renal were found during routine dissection in a 65-year-old male cadaver. The variations found were: bilateral presence of three renal arteries and three renal veins. The three left renal arteries are divided and gave rise to seven branches: the left main renal artery originates two branches; the upper branch originates four branches and the lower branch originates one branch. Retro-aortic left renal vein. Three left testicular artery and double right testicular artery all originating from accessory renal arteries.&#x0D; Conclusions: Awareness of renal and testicular vessels anomalies is essential for decreasing the rate of accidental injuries in surgical procedures in the retroperitoneal region as well as aid in diagnosis of diseases associated with vascular variation in the posterior abdomen. An understanding of the morphology of renal and testicular vessels is necessary in uroradiology, Doppler imaging and computed tomography studies.

Diagnosis and treatment of anomalous aortic origin of a coronary artery from the opposite sinus in children and adolescents

Objective To observe the clinical characteristics and improve the diagnosis and treatment of anomalous aortic origin of a coronary artery from the opposite sinus (AAOCA) in children and adolescents. Methods Between January 2012 and December 2016, 11 children/adolescents [8 were boys, 3 were girls, age was (10.1±5.6) years old] diagnosed with AAOCA were retrospectively reviewed at Department Pediatric Cordiology, Guangdong General Hospital.The clinical features, transthoracic echocardiography (TTE), computed tomography images, electrocardiogram (ECG), cardinc troponin I(CTnI) and creatinine kinase-MB(CK-MB) were analyzed. Results The diagnosis of AAOCA was confirmed by TTE and computed tomography images in all 11 cases.Left coronary artery originated from the right sinus in 5 patients, and right artery coronary originated from the left sinus in 6 cases.Five patients with intramural course had the history of exercise-related syncope.Of these 5 cases with exercise-related syncope, 4 cases were diagnosed as left coronary artery originated from the right sinus and 1 case was diagnosed as right artery coronary originated from the left sinus.ECG, CTnI and CK-MB revealed acute myocardial ischemia in these patients with exercise-related syncope.Unroofing procedures were undergone in these 5 patients.The remaining 6 patients had no syncope and symptoms of cardia ischemia, sports activities were restricted and follow-ups were counseled in these 6 patients.There was no sudden death events later, and none of the patients demonstrated any evidence of new myocardial ischemia in the follow-up study. Conclusions AAOCA can be associated with syncope and myocardial ischemia in children and adolescents.The correct diagnosis of AAOCA requires a very high index of suspicion.Sports activities restriction and follow-up should be counseled in cases with AAOCA.Unroofing procedures should be performed in symptomatic cases with AAOCA and an intramural course. Key words: Coronary vessel anomalies; Exercise-related syncope; Sudden cardiac death; Adolescents; Child

Improving performance of coronary artery segmentation using calculated vessel location from the angiogram

Vessel segmentation in X-Ray Coronary Angiography (XCA) images, which is used for the diagnosis and treatment of anomalies in coronary vessels, has been an intriguing topic in recent years. Due to dynamic background and ambiguous brightness distribution, success rate in segmentation is low and realization has been a challenging process. This paper presents a new approach to increase the success rate of segmentation in XCA images. For this purpose, the vessel structure position is first determined with foreground detection algorithm in the XCA image sequences. Next, state of the art methods of vessel identification and image thresholding used for vessel structure segmentation are being experimented in full and foreground images. The contribution of the suggested method to the success of the segmentation is revealed with the experiments carried out. The scales of sensitivity, specificity and accuracy are given in the paper to evaluate the success of the segmentation. The results were compared with the angiography images segmented manually by a specialist physician. Without proposed detection of candidate vessel location, highest accuracy results 92.4 is achieved with Multiscale Gabor filter and PTile thresholding. Frangi Filter and Otsu thresholding algorithm reached the highest success rate of 93.81 by using the proposed method. All the experiments have shown that accuracy of vessel segmentation is increase by the proposed approach.

Intramuscular arteriovenous malformation in the upper extremity

Vascular malformations are developmental anomalies of vessels, and arteriovenous malformations are the vascular malformations with the high-flow pattern. Arteriovenous malformations are most often located in the head and neck region. The upper extremity location for arteriovenous malformations is relatively rare. A case of intramuscular, symptomatic, forearm arteriovenous malformation is reported. The 11-year-old female patient was referred with pain, and clinical examination revealed a deep mass on the volar side of the forearm. Ultrasonography revealed a high-vascularized mass which was intraoperatively identified inside the flexor digitorum superficialis muscle fibers and MRI was revealed with no connections with the neurovascular structures. The mass was safely excised inside the muscle fibers. Located both in the forearm and inside the muscle fibers show the infrequency of presented arteriovenous malformation. Surgical excision may be a reliable option for these masses because of being symptomatic and focal.

РЕДКИЙ СЛУЧАЙ МНОЖЕСТВЕННЫХ АНОМАЛИЙ

The aim of the study was to describe a rare case of multiple anomalies of the cardiovascular, peripheral nervous and reproductive systems of the human body. Material and methods . A corpse of a man of 52 years old, fixed with a 10% formalin solution, was dissected. In the course of the study, morphometric measurements of anatomical objects were performed using a caliper. From the additional third testicle, a tissue fragment 0.5×0.5×0.5 cm in size was excised, additionally fixed in a 10% neutral formalin solution for 24 hours, then conducted on alcohols of ascending concentration and poured into paraffin. Sections 5 μm thick were stained with hematoxylin and eosin. Results. A bilateral anomaly of the external carotid artery was found, consisting in the dystopia of its branches and the presence of atypical additional vessels, blood supplying the larynx and trachea. A bilateral variant of the sublingual nerve topography was observed. A bilateral anomaly of the lateral cutaneous nerve of the femur was recorded. The case of the third additional testicle dystopia is described. Сonclusion . Discovered multiple variants of blood vessel anomalies, peripheral nerves and internal genital organs in one individual are, apparently, evidence of various violations occurring in the embryonic period. The findings should be taken into account in cardiovascular, neurological and andrological practice.

Great Vessels Anomalies – Prenatal Echocardiography and Neonatal Angio-CT – A Pictorial Essay

Abstract Introduction: Fetal echocardiography is a method of choice for diagnosing cardiovascular anomalies prenatally. However, in the majority of cases, the complexity of a defect creates a diagnostic challenge. Moreover, postnatal validation of sonographic findings rarely can be obtained. Nevertheless, the feedback is vital for improving diagnostic capabilities. Thus, the aim of this research was to compare results of prenatal echocardiography with postnatal angio-CT in patients with anomalies of great vessels. Material and methods: We retrospectively compared results of prenatal echocardiography and postnatal angio-CT in 10 patients with selected anomalies of the aortic arch. This was a qualitative analysis, thus discrepancies in recognized anomalies were compared between these two modalities. Results: In 8/10 patient diagnoses were fully consistent. Nevertheless, the tiny caliber of vessels created a diagnostic challenge (e.x. to differentiate the hypoplastic aortic arch from the aortic arch interruption). In the remaining case, the discrepancy was due to a problem with complete visualization of all branches of the aortic arch in prenatal ultrasound. Conclusions: Fetal echocardiography in tertiary center was a reliable method for assessment of great vessels anomalies. However, critically narrow vessels remain a diagnostic challenge and neonatal angio-CT seems to be the method of choice in cases of diagnostic doubts.

Vascular Malformation of the Face: a Rare Case with Follow-up of 18 Years.

ObjectiveVascular malformations are structural anomalies in the blood vessels. They are present at birth and persist throughout life. These malformations can be classified according to the type of vessel involved. A port-wine stain is a vascular malformation characterized by an increased number of ectatic vessels in the dermal vascular plexus, which can be found in any part of the body, including the head and neck region. Over time, most of these stains result in soft tissue hypertrophy and this growth can cause severe facial deformity.Materials and MethodsThis study describes a rare case of a giant proliferative vascular anomaly arising from a port-wine stain on the face.ResultsThe report highlights the continuous and proliferative growth of the malformation observed after follow-up of 18 years, as well as the difficulty in establishing the diagnosis due to the complexity and dimension of the lesion and the conditions related to the patient’s low socioeconomic status.ConclusionsWe have described a rare and unusual case report of a giant proliferative vascular malformation arising from a Port-wine stain on the face.

Assessment of transposition of the great arteries associated with multiple malformations using dual-source computed tomography.

PurposeTo determine the value of dual-source computed tomography (DSCT) in depicting the morphological characteristics and diagnosing the associated malformations for patients with transposition of the great arteries (TGA) before surgery.Materials and methodsTwenty-five patients with TGA who underwent DSCT and transthoracic echocardiography (TTE) examination were retrospectively reviewed. The morphological types of TGA, the spatial relationship between the pulmonary artery and the aorta, as well as coronary artery-associated abnormalities were assessed by DSCT. In contrast to TTE, the diagnostic accuracy of associated malformations on DSCT were analyzed and calculated with reference to surgical or digital subtraction angiography (DSA) findings. Effective doses (EDs) were also calculated.ResultsAmong the 25 patients, 12 (48%) had ventricular septal defects and left ventricular outflow tract stenosis. Sixteen patients (16/25, 64%) had great arteries with an oblique spatial relationship on DSCT. In addition, we found seven patients (7/25, 28%) with coronary artery malformation, including five with an abnormal coronary origin and two with signs of a myocardial bridge. According to DSA or surgical findings, DSCT was superior to TTE in demonstrating extracardiac anomalies (sensitivity, anomalies of great vessels: 100% vs. 93.33%, other anomalies: 100% vs. 46.15%). The mean estimated ED for those aged <10 years was <2 mSv (1.59 ± 0.95 mSv).ConclusionsDSCT can achieve an overall assessment of patients with TGA, including any associated malformations as well as the identification of the spatial relationship of the great arteries. DSCT can therefore be considered as an alternative imaging modality for surgical decision making.

Coexistence of bicuspid aortic valve, aberrant right subclavian artery and common origin of carotid arteries.

Prevalence of bicuspid aortic valve (BAV) and right aberrant sub-clavian artery (ASA) separately is relatively common in general population, and much higher in some disorders. Surprisingly, coexistence of both valve and vessel anomalies has only been reported in single cases. From 2008 to 2016, in a single, high-volume tertiary cardiac centre, patients who underwent chest computed tomography (CT) for various reasons, were retrospectively screened for the presence of right ASA. Seventy-two patients with either right or left ASA were identified by CT. Among them 7 cases of BAV and right ASA coexistence were identified. Additionally, 1 case with coexisting common origin of carotid arteries (COCA) was visualised in this subgroup. Although coexistence of ASA and BAV has not been reported in paediatric population, it has been diagnosed in very few adults as well as in our series. Additional presence of COCA in this group seems to be very rare. From practical point of view, heart cannulation via the radial artery and subsequent ASA may be challenging. Similarly, COCA presence may have surgical implications during corrective procedures.

Three-dimensional multislice helical computed tomography in the diagnostics of vena azygos connection to the caudal vena cava in a dog - a case report

In a four-year old Australian Cattle Dog bitch, CT angiography of the communication of the azygos vein with the interrupted caudal vena cava, without portocaval shunting is described. The communication of the azygos vein with the discontinued caudal vena cava is usually an incidental finding which does not appear with portocaval shunting. CT angiography and 3D multiplanar reconstruction (MIP and VR) enable us to distinguish the processes regarding the direction and size of anomalies of the blood vessels. By means of imaging in two basic projections using the velocity ratio (VR) a significant enlargement and the communication of the caudal vena cava with a significantly enlarged azygos vein and its connection with the cranial vena cava is shown.

Interventional controlled cross‐sectional study assessing the correlation between optic nerve vessels anomalies, serum angiogenic factors and renal anomalies in children with Down syndrome

Interventional controlled cross‐sectional study assessing the correlation between optic nerve vessels anomalies, serum angiogenic factors and renal anomalies in children with Down syndrome

Isolated Bridging Bronchus: Findings from Bronchoscopy and Airway Three-Dimensional Reconstruction.

A bridging bronchus (BB) is an aberrant bronchus that is commonly associated with congenital cardiac and great vessel anomalies. We describe a rare case of a BB in a pediatric patient without complicated congenital cardiac and great vessel anomalies. Bronchoscopy and 3-dimensional reconstruction computed tomography may be useful in recognizing this rare airway malformation. Antibiotics, mucolytic, and mechanical vibration sputum expectoration treatments were recommended during episodes of respiratory infection. Slide tracheoplasty is an appropriate technique if the respiratory status deteriorates.

The ‘radical combined approach’ in cerebral arteriovenous malformation treatment: Technical note

AVMs are vessel anomalies where a connection between arterial and venous systems is present and the capillary bed is absent between the two. AVMs tend to present with seizures, headaches, focal neurological deficits and hemorrhage. Hemorrhage is the most common form of presentation. AVM's have a 2–4% annual risk of hemorrhage. Certain studies report this rate as 1%. The greatest discussion in AVM treatment is whether to use interventional treatment or monitor with medical treatment. There are 3 modalities that can be used for interventional treatment; microsurgical resection, endovascular embolization and stereotactic radiosurgery. Combined techniques are also possible. We defined the ‘radical combined approach’ combines embolization and microsurgery. We will discuss this procedure in this article as we believe it has several advantages.