Concomitant Anomalies Research Articles

Correction of Triphalangeal Thumb with Small Delta Phalanx by Closed Wedge Osteotomy of the Proximal Phalanx: A Case Report

Background: Triphalangeal thumb (TPT) is a rare congenital anomaly, especially in the Asian population. Traditional treatments depend on the type of deformity and the presence of concomitant anomalies and include either excision in addition to the ligament reconstruction or fusion and shortening osteotomy. Instability and stiffness are the major concerns following the traditional techniques. Case Report: In this study, we report a case of right TPT with a small delta phalanx in a nine-year-old boy who was treated by proximal phalanx radial closed wedge osteotomy without delta phalanx resection or intracapsular dissection. The angular deformity and the appearance of the thumb were corrected by this simple procedure without resulting in instability and stiffness in the interphalangeal joint. Conclusion: Proximal phalanx closed wedge osteotomy is a rapid, simple, and effective technique with a low risk of unexpected complications for correcting the appearance in the cases of TPT with a small delta phalanx.

Surgical treatment of a true diverticulum of the bladder in a patient with aplasia of the left kidney. Case report

A bladder diverticulum (BD) is a blindly terminating sac-like protrusion of the bladder wall with or without involvement of the muscular layer. BDs are categorized into true (congenital) and false (acquired), single and multiple. False diverticula are more common and develop in infravesical obstruction due to urethral stricture, prostate neoplasms, neurogenic disorders and other lower urinary tract diseases. Currently, there are no clear recommendations regarding the tactics of treatment of BD, so the choice of treatment method is based on the determination of the cause of BD, assessment of clinical manifestations and diagnostic results (localization, size, number, etc.), as well as the identification of concomitant anomalies and diseases of the upper urinary tract. The priority in the treatment of BD is surgical treatment. The article presents the observation of a patient with a developmental anomaly in the form of aplasia of the left kidney combined with a large congenital BD in the area of the missing mouth of the aplasic left ureter. The results of examination and treatment in the form of laparoscopic diverticulectomy are presented. A brief review of the literature on the problem of diverticulosis has been carried out.

Cor Triatriatum Dexter. Role of Echocardiography, Computed Tomography, and Magnetic Resonance Imaging in Its Diagnosis

Cor triatriatum dexter is a rare congenital heart anomaly in which the right atrium is divided into 2 chambers by a membrane. Clinical manifestations vary depending on the degree of the right atrium separation and the presence of concomitant anomalies. We report a case of asymptomatic cor triatriatum dexter diagnosed during transthoracic echocardiography. The diagnosis was confirmed by transesophageal echocardiography, computed tomography, and magnetic resonance imaging. Transthoracic echocardiography is a sensitive primary diagnostic tool for such congenital heart disease as cor triatriatum dexter.

Diagnostic Capabilities of Transthoracic Echocardiography and Cardiac Computed Tomography in Preoperative Planning of Total Anomalous Pulmonary Venous Return Correction

Introduction: Total anomalous pulmonary venous return (TAPVR) is a congenital heart defect in which there is no direct connection between pulmonary veins and the left atrium. Hospital mortality in patients with TAPVR, depending on the anatomical type of the defect, ranges from 14% to 35%. Without surgical correction, children with obstructive TAPVR die in the neonatal period. The mortality rate of children with nonobstructive TAPVR reaches 80% by the first year of life.Objective: To evaluate the capabilities of transthoracic echocardiography (TTE) and cardiac computed tomography (CT) in TAPVR diagnosis and surgical planning of its correction.Materials and methods: The study included 17 children with an initial diagnosis of TAPVR. The age of the patients was 28.5 (11; 91) days. All the infants underwent TTE; 15 patients underwent cardiac CT, and 4 patients, cardiac catheterization with conventional angiography. We evaluated and compared the capabilities of these methods in the diagnosis and determination of the TAPVR type and concomitant anomalies. All data were compared with conventional angiography findings and intraoperative data. The interval between TTE, cardiac CT, and angiography or open surgery was less than 5 days.Results: The accuracy of TTE in diagnosing TAPVR was not significantly inferior to that of cardiac CT (88% vs 100%); erroneous results of TTE were found in 2 patients with heterotaxy syndrome (right isomerism). Both methods showed 100% diagnostic efficiency in determining the TAPVR type. The accuracy of TTE in diagnosing obstructive TAPVR was 81.2%, whereas that of cardiac CT, 94%. There was no statistically significant difference in diagnostic efficiency between CT and TTE in the diagnosis of TAPVR and its obstructive forms.Discussion: Our findings demonstrate the high efficiency of TTE in diagnosing TAPVR, determining its anatomical type, and identifying obstructive forms. This method has limited diagnostic capabilities in determining TAPVR in patients with heterotaxy syndrome and other congenital anomalies of the atria. Cardiac CT has proven to be a highly accurate tool in diagnosing TAPVR and determining obstructive forms and associated heart anomalies.Conclusions: In children with isolated TAPVR and normal arrangement of the organs (situs solitus) with good acoustic window, TTE is the initial and final tool for surgical planning of TAPVR correction. In children with TAPVR and concomitant heart defects, heterotaxy syndrome and other atrial anomalies, TTE should be supplemented by cardiac CT. Cardiac CT in children with TAPVR is an alternative to invasive cardiac catheterization with conventional angiography and should be a preferred diagnostic tool. Conventional angiography should be used in children with TAPVR for assessment of functional, not anatomical characteristics of the defect.

Molecular analysis of 31 cases with fetal skeletal dysplasia.

The aim of this study was to describe the prenatal ultrasound findings of fetuses with skeletal dysplasia and to evaluate the genetic variations by molecular genetic analysis. Between August 1, 2018 and March 1, 2023, we conducted a retrospective case series at a tertiary referral center involving patients with fetal skeletal abnormalities. For cases referred for a possible diagnosis of fetal skeletal dysplasia, an ultrasound database and prenatal genetic counseling records were first searched. Terminated cases diagnosed with skeletal dysplasia by pathologic and radiologic findings and cases with skeletal dysplasia proven by postnatal clinical findings were included in the study. Between 2018 and 2023, a total of 64 cases were diagnosed as skeletal dysplasia based on radiologic findings, pathologic findings, and clinical features. The median week of the first ultrasound performed on patients is 19 0/7weeks, while the median week of the ultrasound in which skeletal dysplasia is suspected is 21 3/7weeks. Although micromelia was evaluated as a common feature in all cases, the most common concomitant anomaly was thoracic hypoplasia. Exome sequencing analysis was achieved in 31 (48 %) of cases. In 31 cases, in total of 35 pathogenic single gene mutations and 5 VUS (variants of uncertain significance) variants composing of 23 autosomal dominant, 10 autosomal recessive and 2 X linked recessive mutations were determined. Prenatal ultrasound findings can lead us to specific diagnoses, and with the appropriate molecular analysis method, a definitive diagnosis can be made without wasting time and money.

Cardiovascular malformation associated with esophageal atresia

Abstract Background Congenital heart disease (CHD) is the commonest abnormality associated with esophageal atresia (EA). EA is a rare congenital malformation occurring in 3-4 in 10,000 births, in 87% occurs along with a distal tracheoesophageal fistula (TEF). The coexistence of a cardiac malformation and in addition, prematurity can be challenging and affects the further treatment and quality of life (QOL) of the child and family. Knowledge of the anatomical type and physiological consequences of CHD allows a well-coordinated treatment plan. Purpose The aim of this paper is to investigate whether the presence of underlying associated malformations, disease-specific problems and prematurity would have a considerable influence on the family of a child after surgical repair of EA. Methods We used a crossed-sectional questionnaire study. The impact of EA was assessed using an Authors-Designed Questionnaire (ADQ) to collect medical and sociodemographic background data (gestational week (HBD), comorbidities, type of EA, according to the Gross classification) as well as standardized questionnaire: the PedsQL™ Family Impact Module (PedsQL-FIM). Results Of the 76 children born with EA/TEF included in this study, 26% had a vascular malformation. Mean age was 5.3 years (SD = 3.7 years). Cardiovascular malformation associated with EA significantly (p=0.037) affects the functioning of the family in the emotional domain (FIM – ED). The QOL (p < 0,034) of children born before 37th HBD is lower that children born in term The presence of concomitant anomalies does affect the overall generic QoL. No statistical correlation was found between the type of anomaly (with/without TEF) and patients' QoL. Conclusions Cardiovascular malformation and prematurity significantly affect child’s QOL and the functioning of the family with EA. Patients who have undergone EA treatment require specialist outpatient care, not only in the first years of life, but also in adolescence and adulthood.

Possibilities of modern methods of cardiac imaging in the diagnosis and preoperative planning of transposition of the great arteries in children: a prospective study

INTRODUCTION: Transposition of the great arteries (TGA) is the classic, most common and severe form of cyanotic congenital heart defects in children, which is characterized by a variety of anatomical and hemodynamic variants, combined with other cardiac anomalies and high infant mortality rates. The surgical treatment and the possibility of performing simultaneous correction of TGA depend on the anatomical and hemodynamic features of the TGA and the presence of combined intra- and extracardiac anomalies, which must be determined using cardiac imaging techniques on the preoperative stage.OBJECTIVE: To evaluate the capabilities of TTE and cardiac CT in the diagnosis and surgical planning of TGA in children.MATERIALS AND METHODS: The study included 29 children with an incoming diagnosis of transposition of the great arteries. The average age of the patients was 31 (14.5; 67) days. All children underwent TTE, 21 — cardiac CT with intravenous contrast enhancement, 6 — catheterization of the cardiac cavities with conventional angiography. Cardiac MRI was not performed due to the severe and unstable general condition of all patients and the significant risks from a longer stay in anesthesia. Capabilities of TTE and cardiac CT in determining combined intra- and extracardiac anomalies were assessed and compared. All data from TTE and cardiac CT were compared with the results of conventional angiography and intraoperative data. The interval between TTE, cardiac CT and angiography or surgery was less than 10 days.RESULTS: The accuracy of TTE and cardiac CT in TGA diagnosis and determining its type was 100% for both methods, however, with regard to determining combined intra- and extracardiac anomalies, the methods play a different role: the accuracy of cardiac CT in determining combined intracardiac anomalies in patients with TGA was 87.7% (AUC 89.3%), for TTE — 97.1% (AUC 97.3%). Comparing the capabilities of the techniques in determining intracardial anomalies, no statistically significant difference was obtained (p=0.092). The diagnostic accuracy of cardiac CT in determining concomitant anomalies of the great vessels and extracardiac pathology was 98% (AUC=98.9%). The sensitivity and specificity of TTE in the comprehensive assessment of concomitant extracardiac anomalies were 58% and 98%, respectively (accuracy 89.1%), AUC 81.1%. Comparing the capabilities of techniques in determining intracardial anomalies, cardiac CT showed to be a more accurate tool in comparison with TTE (p=0.041).DISCUSSION: Results of our study demonstrate the high efficiency of TTE in determining indications for emergency palliative correction of transposition of the great arteries, however, the method has limited diagnostic capabilities in assessing surgical risks when planning radical correction of the defect. Cardiac CT has proven to be a highly accurate tool both in making a diagnosis and in identifying combined intra- and extracardiac anomalies, which play a decisive role in planning open surgical correction of transposition of the great arteries in children.CONCLUSION: For patients with TMA and critical hypoxia, transthoracic echocardiography is the definitive diagnostic tool for planning endovascular repair. When planning open surgery, transthoracic echocardiography should be complemented by cardiac CT with ECG gating to assess the anatomy of the coronary arteries and possible associated extracardiac anomalies.

Congenital basal encephaloceles involving functionally important structures

We reviewed 43 articles (78 cases) devoted to basal encephaloceles involving functionally important structures. Analysis included transsphenoidal and sphenoethmoidal hernias. Nasal breathing disorders were found in 76.9% of cases, decreased visual acuity - 53.8%, endocrine disorders - 44.9%, nasal CSF leakage - 14.1%, meningitis - 10.3%. Concomitant malformations occurred in 85.9%. Severe respiratory disorders (52.6%, p<0.05) and multiple concomitant malformations (71.7%, p<0.05) were more common among patients with sphenoethmoidal encephalocele. Among 78 patients, 73.1% underwent surgery while follow-up was preferable in 26.9% of cases. There was progression of endocrine disorders (9.5%), visual impairment (4.8%) and nasal breathing disorders (4.8%) in follow-up period. Surgical treatment also has many risks. Transcranial, transnasal, transoral and combined approaches are currently used. It was not possible to establish the most effective surgical approach due to heterogeneous clinical data. Postoperative complications occurred in 47.4% of cases (endocrine disorders - 33.3%, CSF leakage - 8.8%, visual impairment - 1.8%, infectious complications - 14%). Mortality rate was 3.5%. Congenital basal encephalocele involving functionally important structures is an extremely rare developmental defect. Such patients often have concomitant anomalies. Comprehensive examination is necessary to estimate the structures included in hernial sac and concomitant diseases. Treatment strategy should be determined individually after thorough examination and comparison of all risks. Surgical treatment is associated with high risk of complications due to damage to the structures comprising encephalocele.

Neurotransmitter levels in the basal ganglia are associated with intracortical circuit activity of the primary motor cortex in healthy humans

BackgroundThe basal ganglia are strongly connected to the primary motor cortex (M1) and play a crucial role in movement control. Interestingly, several disorders showing abnormal neurotransmitter levels in basal ganglia also present concomitant anomalies in intracortical function within M1. Objective/HypothesisThe main aim of this study was to clarify the relationship between neurotransmitter content in the basal ganglia and intracortical function at M1 in healthy individuals. We hypothesized that neurotransmitter content of the basal ganglia would be significant predictors of M1 intracortical function. MethodsWe combined magnetic resonance spectroscopy (MRS) and transcranial magnetic stimulation (TMS) to test this hypothesis in 20 healthy adults. An extensive TMS battery probing common measures of intracortical, and corticospinal excitability was administered, and GABA and glutamate-glutamine levels were assessed from voxels placed over the basal ganglia and the occipital cortex (control region). ResultsRegression models using metabolite concentration as predictor and TMS metrics as outcome measures showed that glutamate level in the basal ganglia significantly predicted short interval intracortical inhibition (SICI) and intracortical facilitation (ICF), while GABA content did not. No model using metabolite measures from the occipital control voxel was significant. ConclusionsTaken together, these results converge with those obtained in clinical populations and suggest that intracortical circuits in human M1 are associated with the neurotransmitter content of connected but distal subcortical structures crucial for motor function.

The possibilities of modern radiological modalities in aortic coarctation diagnosis and preoperative planning in infants and young age group children

Objective. Evaluation of diagnostic value of modern imaging modalities: trans-thoracic echocardiography (TTE), CT-angiography (CTA) and cardio-MRI in diagnosis and preoperative planning of aortic coarctation correction (CoA) in in infants and young age group children.Materials and methods. 101 pediatric patients (aged 0 to 5 years) with CoA underwent TTE, 98 of them underwent CT, 30 – cardio MRI. On TTE, CTA and cardio-MRI aorta morphometry was performed. The most common anomalies associated with CoA (ventricular septal defect (VSD), patent ductus arteriosus (PDA), aberrant right subclavian artery (ARSA), hypoplastic arch and brachiocephalic vessels anomalies) were assessed.Results. The overall diagnostic accuracy of TTE, CT and cardiac-MRI in diagnosis of CoA were 89.1%, 95.9%, 86.7% respectively. There was no significant difference in the accuracy in detecting CoA between TTE, CT and MRI (p &gt; 0.05). The accuracy of TTE in determining the brachiocephalic vessels anomalies, ARSA and arch hypoplasia was 84%, 93% and 85.3%, respectively. The accuracy of CT in determining the brachiocephalic vessels anomalies, ARSA and arch hypoplasia was 100%, 100% and 98% and cardio-MRI: 97.1%, 98.4% and 96.8%, respectively.Conclusion. TTE is a widely available and safe method, it has a high diagnostic value in determining CoA. Due to limitations in visualization of all parts of the aortic arch and the detection of concomitant anomalies, TTE cannot be the final method in planning the CoA correction. CT and MRI of the heart, as a TTE, are effective methods in the diagnosis of CoA, however, in the assessment of extracardiac anomalies, they equally show a significantly more accurate result.Taking into account the difficulties in conducting MRI of the heart in children under one year and younger age group, the need for a longer stay in anesthesia, the lack of additional diagnostically significant information in comparison with CT of the heart, cardio-MRI is not the method of choice in the primary diagnosis and preoperative planning of correction of CoA in children under one year and younger age group requiring the use of an anesthetic aid for the duration of the scan. Cardio-MRI may be the method of choice in preoperative planning of CoA in small children with absolute contraindications to the radiocontrast agent.

Intralobar bronchopulmonary sequestration: an example of the late onset of this rare congenital pathology

Bronchopulmonary sequestration (BPS) refers to a rare congenital lung malformation with a nonventilated dysplastic fragment of parenchyma separated from the main bronchial tree. This segment has a systemic blood supply through aberrant arteries and venous outflow into the systemic venous bed or pulmonary veins and has a common with the rest of the lung (intralobar BPS) or an independent (extralobar BPS) visceral pleura. Purpose of the study is to describe an unusual late onset of right-sided intralobar BPS characterized by a pseudopneumonic course in a patient with concomitant anomalies of the thoracic spine and diaphragm; to discuss the issues of formation, manifestation, diagnosis, differential diagnosis, complications, and treatment of intralobar BPS, and to consider its combination with other developmental anomalies. Conclusion. BLS should be considered in patients with an unusual course of pulmonary anomalies, especially localized in the basal segments of the left (more common) or right (less common) lung and characterized by abnormal blood supply and other malformations.

Recent advances in the treatment of complex congenital diaphragmatic hernia-a narrative review.

Congenital diaphragmatic hernia (CDH) is an anomaly of the cardiopulmonary system maturation process that results from both a global embryopathy and concomitant mechanical compression of the cardiopulmonary system from the abdominal contents during fetal maturation. This results in pulmonary hypertension, pulmonary hypoplasia, and cardiac dysfunction, requiring intense critical care management. The patients with highest risk CDH are the most challenging, resource-intensive, and bear most of the mortality. Advances at the basic, translational, and clinical research levels are leading to novel therapies and management strategies for complex, high-risk CDH. Our objective is to review novel approaches in thinking and management for the most complex and high-risk CDH patients. These include patients with prenatal and postnatal indicators of high-risk defects, those receiving extracorporeal life support (ECLS), and those with concomitant anomalies such as complex cardiac and/or chromosomal abnormalities. PubMed was searched in late 2022 and early 2023 to identify relevant evidence. Search terms included congenital diaphragmatic hernia (CDH)", "extracorporeal life support (ECLS)", "pulmonary hypertension", "dual-hit hypothesis", "risk reduction", "cardiac/chromosomal anomalies", and "novel therapies". We included trials, multicenter studies (prospective and retrospective), single-center reports, and review articles/expert opinion. CDH is a congenital anomaly of the cardiopulmonary and diaphragmatic systems that represents a spectrum of disease. High-risk or complex patients are defined by prenatal/postnatal risk stratification, receipt of ECLS, and/or having concomitant anomalies, representing the severe end of that spectrum. Overall survival of high-risk CDH is about 50% and comprises the vast majority of mortality, mandating special emphasis. The development of risk-stratification processes, best practices or guidelines of management, and novel therapies is critical to optimize the care of these infants. CDH patients with high-risk disease remain a challenging subset of CDH patients. Increasing opportunities for survival are being realized with novel, investigational approaches.

The effect of atypical arterial vascularization of the liver on computed tomography signs of hemangiomas

Introduction. The article describes the role of computed tomography in the diagnosis of hemangiomas in various types of hepatic arterial circulation. Aim. To determine the features of contrast enhancement of hemangiomas in multislice computed tomography with multiphase contrast enhancement in patients with abnormalities of the arterial supplement of the liver. Materials and methods. The results of 60 computed tomographic angiographies of patients with hemangiomas of various sizes (mean age of patients 59.2±12.3 years, the study included 34 (57 %) men, 26 (43 %) women) were analyzed. Results. The most common anatomical variants of the vasculature, concomitant anomalies of the arterial supply of other abdominal organs, as well as features of contrast enhancement of hemangiomas depending on their size are described. The analysis of vascular architectonics revealed that the first type of arterial supply according to Mitchels (p &lt;0.05) ) is prevailed, however, 3 (3.3 %), 5 (3.3 %), 6 (6.6 %) types were also determined. Thus, a correlation analysis using Fisher’s exact test was not detected a significant correlation between the presence of hemangiomas in the liver parenchyma and the presence of aberrant (r=0.11, p=0.36) or replacement arterial vessels (r=0.14, p=0.35). At the same time, when visually assessing the contrast enhancement of hemangiomas in different phases of contrast enhancement, both in the presence of aberrant and replacing vessels and without them, the main radiation patterns of changing hemangiomas density remained unchanged. Conclusion. Based on the obtained data on the liver arterial system, the absence of a significant correlation between the type of arterial blood supply, the presence of an additional or replacement vessel, and the type of contrast enhancement of hemangiomas during multiphase computed tomography of the abdominal organs was demonstrated.

Role of CT Angiography in Detection of Extracranial Carotid and Vertebral Artery Disease in Patients With Acutely Ruptured Intracranial Aneurysms

Introduction: Computed tomography (CT) and CT angiography are standard imaging modalities for suspected acute intracerebral hemorrhage due to ruptured intracranial aneurysms. In this clinical setting, several protocols of computed tomography and CT angiography may be implemented. The standard CT angiography protocol is limited to intracranial vessels. The extended protocol may also include carotid and vertebral arteries and the aortic arch.Objective: To define the CT angiography role in detection of extracranial carotid and vertebral artery disease and clinical significance of this method for patients with suspected acute intracerebral hemorrhages due to ruptured intracranial aneurysms.Materials and methods: The study included 275 neurosurgical patients with acute nontraumatic intracranial hemorrhages due to ruptured intracranial aneurysms who were treated in Scientific Research Institute – Ochapovsky Regional Clinical Hospital No. 1 (Krasnodar, Russian Federation) from September 2017 to August 2020. Computed tomography and CT angiography were performed in all patients. The scanned area included both intracranial and extracranial arteries (an arch-to-vertex angiogram) to detect extracranial carotid and vertebral artery diseases such as stenoses, occlusions, tortuosity, and hypoplasia.Results: Atherosclerosis of internal carotid and vertebral arteries was diagnosed in 95 patients (34.5% of the total number of patients included in the study). In 13 (4.7%) patients these stenoses were hemodynamically significant. We identified a high frequency of tortuous carotid and vertebral arteries (122 cases, 44.3%) and vertebral artery hypoplasia (59 cases, 21.5%). The carotid and vertebral artery stenoses and congenital anomalies of vertebral arteries (however, not of carotid arteries) were associated with a higher incidence of unfavorable outcomes after endovascular treatment of intracranial aneurysms.Conclusions: The optimal CT angiography protocol for acute nontraumatic intracranial hemorrhage should focus on the arteries of the head and neck (up to the aortic arch). This protocol shows higher detection rate of concomitant anomalies of carotid and vertebral arteries. These findings are important for planning and successful performance of endovascular treatment for intracranial aneurysms.

Retrospective Analysis of Associated Anomalies in 636 Patients with Operatively Treated Congenital Scoliosis.

Congenital scoliosis is frequently associated with anomalies in multiple organ systems. However, the prevalence and distribution of associated anomalies remain unclear, and there is a large amount of variation in data among different studies. Six hundred and thirty-six Chinese patients who had undergone scoliosis correction surgery at Peking Union Medical College Hospital from January 2012 to July 2019 were recruited, as a part of the Deciphering disorders Involving Scoliosis and COmorbidities (DISCO) study. The medical data for each subject were collected and analyzed. The mean age (and standard deviation) at the time of presentation for scoliosis was 6.4 ± 6.3 years, and the mean Cobb angle of the major curve was 60.8° ± 26.5°. Intraspinal abnormalities were found in 186 (30.3%) of 614 patients, with diastematomyelia being the most common anomaly (59.1%; 110 of 186). The prevalence of intraspinal abnormalities was remarkably higher in patients with failure of segmentation and mixed deformities than in patients with failure of formation (p < 0.001). Patients with intraspinal anomalies showed more severe deformities, including larger Cobb angles of the major curve (p < 0.001). We also demonstrated that cardiac anomalies were associated with remarkably worse pulmonary function, i.e., lower forced expiratory volume in the first second (FEV1), forced vital capacity (FVC), and peak expiratory flow (PEF). Additionally, we identified associations among different concomitant malformations. We found that patients with musculoskeletal anomalies of types other than intraspinal and maxillofacial were 9.2 times more likely to have additional maxillofacial anomalies. In our cohort, comorbidities associated with congenital scoliosis occurred at a rate of 55%. To our knowledge, our study is the first to show that patients with congenital scoliosis and cardiac anomalies have reduced pulmonary function, as demonstrated by lower FEV1, FVC, and PEF. Moreover, the potential associations among concomitant anomalies revealed the importance of a comprehensive preoperative evaluation scheme. Diagnostic Level III. See Instructions for Authors for a complete description of levels of evidence.

Outcomes of treatment for right atrial isomerism with functional single ventricle and extracardiac total anomalous pulmonary venous connection beyond neonatal period: Delayed surgical treatment, improving outcomes.

Total anomalous pulmonary venous connection (TAPVC) is frequently associated with right atrial isomerism (RAI), which is commonly complicated with an unbalanced atrioventricular canal with contralateral hypoplasia, complex systemic and pulmonary venous anatomy, and conotruncal abnormalities, resulting in increased risk of mortality. This study aimed to review the outcomes of delayed surgical treatment for patients with RAI complicated with functional single ventricle (FSV) and TAPVC at a single center. In this retrospective study, we reviewed the medical records of 24 consecutive patients with RAI complicated with FSV and TAPVC who underwent initial surgical palliation after 5-month old between September 2008 and June 2019. Demographic data, concomitant anomalies, age at initial palliation, and surgical interventions were extracted and analyzed using the Cox proportional hazard model to assess risk factors for mortality and the Kaplan-Meier method to assess survival. The in-hospital mortality was 12.5% (three out of 24). The causes of death were pulmonary arterial hypertension and low cardiac output syndrome. Average follow-up was 65.2 ± 40.3 months (7-137 months). Another 4 patients died during the follow-up due to low cardiac output syndrome, protein-losing enteropathy and pulmonary arterial hypertension, respectively. Kaplan-Meier estimated survival at 1 and 5 years were 83.1 and 69.4%, respectively. Fontan completion was 45.8% (11/24). The mortality for patients with pulmonary venous obstruction (PVO) was 66.7% (4/6). Cox multivariate regression analysis indicated that preoperative PVO was the only risk factor for mortality (p = 0.032; hazard ratio, 10.000; CI 1.222-81.811). Outcomes of delayed surgical treatment for patients with RAI complicated with FSV and TAPVC have improved significantly. The survival and Fontan completion were higher. However, preoperative PVO was still the risk factor for mortality.

Outcomes of one-staged procedures to treat aortic coarctation complicated by cardiac anomalies

ObjectiveOne-staged surgical treatment of aortic coarctation combined with cardiac anomalies is challenging. We aim to evaluate the feasibility of bilateral aortofemoral bypass technique in one-staged surgery treating coractation by comparing surgical outcomes with catheter intervention plus stent (hybrid).MethodsBetween January 2012 and December 2017, 50 patients underwent one-staged surgical procedures to treat coarctation and repair concomitant cardiac anomalies, like aortic root dilatation, cardiac valvular disease and so on. Among them, 30 patients underwent bilateral aortofemoral bypass and 20 patients underwent hybrid procedure to treat coarctation. We retrospectively analyzed the data of these patients and compared the early and late results.ResultsAll the baseline clinical characteristics were comparable between groups except that the mean age of bypass group was 39.5 ± 14.0 years which was older than hybrid group (27.9 ± 8.5 years, P = 0.002). Technical success was achieved in all patients, with no hospital death or other severe complications. Immediately after surgery, in bypass and hybrid group, the mean upper-limb systolic blood pressure decreased from 159.4 to 119.7 mmHg and 148.4 to 111.6 mmHg, the median peak systolic gradient decreased from 68.0 to 10 mmHg and 46.5 to 10 mmHg respectively (P = 0.09). And the mean upper-lower limbs gradient decreased from 21.7 to 5.9 mmHg and 21.0 to 2.7 mmHg respectively (P = 0.104). The mean follow-up time was 76.92 ± 18.7 in bypass group and 85.4 ± 20.6 months in hybrid group. There were 4 late deaths in bypass group (one died of gastrointestinal bleeding, one died of pulmonary embolism and the other two died of heart failure caused by mechanical prosthetic valve dysfunction). The follow-up peak systolic gradient and other blood pressure parameters showed stable and no differences between two groups.ConclusionsThe bilateral aortofemoral bypass surgery is a safe and effective method which can be used in one-staged surgical strategy to treat coarctation complicated by cardiac anomalies and can be an alternative to the hybrid method.

Urological anomalies in OHVIRA syndrome (Herlyn-Werner-Wunderlich syndrome)

We provide a systematic review of articles related to OHVIRA syndrome (Herlyn-Werner-Wunderlich syndrome), found in PubMed/MedLine, Web of Science, Scopus, Scirus, The Cochrane Library and eLIBRARy to show how the urological component of this congenital malformation, previously considered as a concomitant anomaly, has become an important diagnostic marker. Several attempts were made to classify this condition, and they got more complex to include these variants of abnormalities of the kidney and ureter that were found due to advances in imaging technology. As a result, the understanding of the medical community about the OHVIRA syndrome has gradually changed over the past hundred years, and the growing interest of pediatric urologists and surgeons, in turn, has contributed to the early diagnosis of the syndrome and the improvement of examination methods.

Role of Magnetic Resonance Cholangiopancreatography in the Diagnosis of Cystic Transformation Hepaticocholedoch and Possible Postoperative Complications (Clinical Case)

The article presents a description of a clinical case in a 7-year old child suffering occasional abdominal pain. An examination (3D magnetic resonance cholangiopancreatography) revealed a choledoch duct cyst type Iс. Surgical correction of congenital malformation of bile ducts was performed due to periodic attacks of pain, presence of concretions in the ducts, the possibility of malignification in the future and the development of possible complications. The clinical example demonstrates the high efficiency of MRCP for assessing anatomical and topographic relationships and concomitant structural anomalies that allow planning the tactics of surgical treatment. MRCP is important to use in the postoperative period to assess possible complications.

The characteristics and perioperative outcomes of\xa0children with orofacial clefts\xa0managed at an academic hospital in Johannesburg, South Africa

BackgroundOrofacial clefts (OFCs) are the commonest congenital anomalies of the head and neck. Their aetiology is multifactorial, and prevalence has a geographical variation. This study sought to describe OFC cases that presented for surgery.ObjectivesThe study aimed to describe the preoperative characteristics, concomitant congenital anomalies and perioperative outcomes of children presenting for cleft repair surgery over a 5-year period at Charlotte Maxeke Johannesburg Academic Hospital (CMJAH).MethodsA retrospective descriptive record review for children under the age of 14 years who presented for cleft repair surgery at Charlotte Maxeke Johannesburg Academic Hospital (CMJAH) during a 5-year period, from 1 January 2014 to 31 December 2018. Descriptive and comparative statistics were used to report the results.ResultsA total of 175 records were included in the study. The median (IQR) age was 11 (6—27) months, with a predominance of males 98 (56%). Most of the children had cleft lip and palate (CLP) 71(41%). The prevalence of concomitant congenital anomalies was 22%, emanating mostly from head and neck congenital anomalies. Nine syndromes were identified in 15 children with syndromic clefts. Twenty-nine percent of children were underweight for age. There were 25 anaesthetic related complications, commonly airway related. Six children with complex multiple congenital anomalies were admitted in the intensive care unit postoperatively. No mortalities were recorded.ConclusionMajority of children with orofacial clefts underwent cleft repair surgery without serious complications and intensive care unit admission. Only six children were diagnosed with significant anomalies needing intensive care management.