Complex Congenital Defects Research Articles

Report of a case with partial trisomy 9 mosaicism

Trisomy 9 syndrome and other related abnormalities such as full or mosaic trisomy 9 are very rare human chromosomal disorders. The disorders cause early pregnancy loss or death within 20 days after the birth which is accompanied by complex birth defects. The case reported here is a 26-year-old female, identified with partial trisomy of chromosome 9 by Array comparative genomic hybridization -aCGH, but has a longer life than reported in the medical literature and can give birth. The patient did not have abnormal mental or motor problems; no morphological ultrasound abnormalities; curved thumb and scattered warts on the left hand; gave birth to a healthy son after three consecutive stillbirths. The report has shown diverse clinical manifestations of trisomy 9 mosaic abnormalities in humans, contributing to a rare data source of trisomy 9 mosaic cases. Since then, improve knowledge of genetic counseling for rare cases of trisomy 9 mosaicism, especially in genetic counseling of prenatal diagnosis.

Vasoplegic syndrome after cardiovascular surgery: A review of pathophysiology and outcome-oriented therapeutic management.

Vasoplegic syndrome (VPS) is defined as systemic hypotension due to profound vasodilatation and loss of systemic vascular resistance (SVR), despite normal or increased cardiac index, and characterized by inadequate response to standard doses of vasopressors, and increased morbidity and mortality. It occurs in 9%-44% of cardiac surgery patients after cardiopulmonary bypass (CPB). The underlying pathophysiology following CPB consists of resistance to vasopressors (inactivation of Ca2+ voltage gated channels) on the one hand and excessive activation of vasodilators (SIRS, iNOS, and low AVP) on the other. Use of angiotensin-converting enzyme inhibitor (ACE-I), calcium channel blockers, amiodarone, heparin, low cardiac reserve (EF < 35%), symptomatic congestive heart failure, and diabetes mellitus are the perioperative risk factors for VPS after cardiac surgery in adults. Till date, there is no consensus about the outcome-oriented therapeutic management of VPS. Vasopressors such as norepinephrine (NE; 0.025-0.2 µg/kg/min) and vasopressin (0.06 U/min or 6 U/h median dose) are the first choice for the treatment. The adjuvant therapy (hydrocortisone, calcium, vitamin C, and thiamine) and rescue therapy (methylene blue [MB] and hydroxocobalamin) are also considered when perfusion goals (meanarterial pressure [MAP] > 60-70 mmHg) are not achieved with nor-epinephrine and/or vasopressin. The aims of this systematic review are to collect all the clinically relevant data to describe the VPS, its potential risk factors, pathophysiology after CPB, and to assess the efficacy, safety, and outcome of the therapeutic management with catecholamine and non-catecholamine vasopressors employed for refractory vasoplegia after cardiac surgery. Also, to elucidate the current and practical approach for management of VPS after cardiac surgery. "PubMed," "Google," and "Medline" weresearched, and over 150 recent relevant articles including RCTs, clinical studies, meta-analysis, reviews, case reports, case series and Cochrane data were analyzed for this systematic review. The filter was applied specificallyusing key words like VPS after cardiac surgery, perioperative VPS following CPB, morbidity, and mortality in VPS after cardiac surgery, vasopressors for VPS that improve outcomes, VPS after valve surgery, VPS after CABG surgery, VPS following complex congenital cardiac anomalies corrective surgery, rescue therapy for VPS, adjuvant therapy for VPS, definition of VPS, outcome in VPS after cardiac surgery, etiopathology of VPS following CPB. This review did not require any ethical approval or consent from the patients. Despite the recent advances in therapy, the mortality remains as high as 30%-50%. NE has been recommended the most frequent used vasopressor for VPS. It restores and maintain the MAP and provides the outcome benefits. Vasopressin rescue therapy is an alternative approach, if catecholamines and fluid infusions fail to improve hemodynamics. It effectively increases vascular tone and lowers CO, and significantly decreases the 30 days mortality. Hence, suggested a first-line vasopressor agent in postcardiac surgery VPS. Terlipressin (1.3μg/kg/h), a longer acting and more specific vasoconstrictor prevents the development of VPS after CPB in patients treated with ACE-I. MB significantly reduces morbidity and mortality of VPS. The Preoperative MB (1%, 2mg/kg/30min, 1h before surgery) administration in high risk (on ACE-I) patients for VPS undergoing CABG surgery, provides 100% protection against VPS, and early of MB significantly reduces operative mortality, and recommended as a rescue therapy for VPS. Hydroxocobalamin (5 g) has been recommended as a rescue agent in VPS refractory to multiple vasopressors. A combination of ascorbic acid (6 g), hydrocortisone (200 mg/day), and thiamine (400 mg/day) as an adjuvant therapy significantly reduces the vasopressors requirement, and provides mortality and morbidity benefits. Currently, the VPS is frequently encountered (9%-40%) in cardiac surgical patients with predisposing patient-specific risk factors and combined with inflammatory response to CPB. Multidrug therapy (NE, MB, AVP, ATII, terlipressin, hydroxocobalamin) targeting multiple receptor systems is recommended in refractory VPS. A combination of high dosage of ascorbic acid, hydrocortisone and thiamine has been used successfully as adjunctive therapyto restore the MAP. We also advocate for the early use of multiagent vasopressors therapy and catecholamine sparing adjunctive agents to restore the systemic perfusion pressure with a goal of preventing the progressive refractory VPS.

Ventricular septal defect with pulmonary atresia: approaches, results, prognosticators and current status.

Ventricular septal defect with pulmonary atresia and major aortopulmonary collateral arteries is a complex congenital cardiac anomaly with a wide spectrum of anatomical variations. Akin to the same, the management options are also very diverse ranging from aggressive single-stage repair with unifocalisation to surgical palliation and/or staged repair and also heart transplant. There is no consensus on the best management option. This review aims at highlighting the various surgical options and proposing a management pathway suited for the subcontinent patients.

Experiences and attitudes of young adults with congenital bowel and bladder conditions

Young adults with complex congenital bowel and bladder anomalies are a vulnerable population at risk for poor health outcomes. Their experiences with the healthcare system and attitudes towards their health are understudied. Our objective was to describe how young adults with congenital bladder and bowel conditions perceive their current healthcare in the domains of bladder and bowel management, reproductive health, and transition from pediatric to adult care. At a camp for children with chronic bowel and bladder conditions, we offered a 50-question survey to the 62 adult chaperones who themselves had chronic bowel and bladder conditions. Of the 51 chaperones who completed the survey (a response rate of 82%), 30 reported a congenital condition and were included. The cohort of 30 respondents had a median age of 23 years and almost half of the subjects (46%) reported not having transitioned into adult care. Most reported bowel (81%) and bladder (73%) management satisfaction despite high rates of stool accidents (85%), urinary accidents (46%), and recurrent urinary tract infections (70%). The majority of respondents (90%) expressed interest in having a reproductive health provider as part of their healthcare team. The median ages of the first conversation regarding transition to adult care and feeling confident in managing self-healthcare were 18 and 14 years, respectively. Most (85%) reported feeling confident in navigating the medical system. In this cohort of young adults who reported confidence with self-care and navigating the medical system, the proportion who had successfully transitioned into to adult care was low. These data highlight the need for improved transitional care and the importance of patient-provider and provider-provider communication throughout the transition process. These data highlight the need to understand the experience of each individual patient in order to provide care that aligns with their goals.

Comparison between prepubertal and postpubertal patients with obstructed hemivagina and ipsilateral renal anomaly syndrome

Obstructive hemivagina with ipsilateral renal anomaly (OHVIRA) syndrome is a rare, complex congenital anomaly with an unknown prevalence. However, case reports and small studies on OHVIRA syndrome have increased rapidly in the last 20 years, which may be related to increased use of imaging, surgical techniques, and prenatal sonography. This study aimed to analyze and compare patients with OHVIRA syndrome diagnosed in the prepubertal and postpubertal periods to understand the disease characteristics and improve clinical management. A retrospective cohort study was conducted including 65 patients with OHVIRA syndrome who were diagnosed between January 2004 and September 2018at a tertiary university hospital. Among the 65 patients, 44 patients were diagnosed with OHVIRA syndrome during the prepubertal period and 21 patients were diagnosed postpubertally. Compared with postpubertally diagnosed patients with OHVIRA syndrome, those diagnosed prepubertally were mostly asymptomatic at initial presentation (82% versus [vs.] 0%, P<0.001), had a higher incidence of ectopic ureter (68% vs. 24%, P=0.001), and presented with a higher incidence of multicystic dysplastic kidney (61% vs. 19%, P=0.01). Approximately half of the patients with prepubertal OHVIRA syndrome (53%) showed spontaneous resolution of hemivaginal fluid within 5 years. Among the patients with postpubertally diagnosed OHVIRA syndrome, those in the pain-dominant group had a larger amount of hemivaginal fluid than those in the painless discharge-dominant group (54% vs. 10%, P=0.036). Superimposed infection of hemivaginal fluid was markedly present in the discharge-dominant group (9% vs. 75%, P=0.006). Clinical characteristics of patients with OHVIRA syndrome are altered based on the time of initial diagnosis. Follow-up and timely intervention should be proceeded accordingly.

Congenital Heart Disease: causes and risk factors

Congenital Heart Defect (CHD) is a multifactorial disorder based on both genetic and environmental factors involved in development. The basic problem lies in the structure of heart leading to CHD that occurs in walls, valves, arteries and veins of heart. During cell cycle, the gene that controls this process may mutate, causing disturbance in any portion of heart leading to disturbed blood flow, blood flow in wrong direction or complete blockage. Defect may range from simple with no manifestations to complex with severe symptoms. Simple defects need no treatment while some babies with complex birth defects during birth require special care, vaccination, medication or otherwise treated with surgery. The incidence of CHD has declined from 80 to 20% due to progress in heart surgery techniques, medical treatment and interventional cardiology. Various genetic and non-genetic increase the susceptibility for CHD. The diagnosis and treatment of CHD has greatly improved in recent years. Almost all the children with CHD survive to adulthood and spend healthy and active lives after being treated

Preliminary Experience With the New Amplatzer™ Trevisio™ Delivery System in Transcatheter Atrial Septal Defect Closures in Children.

Objectives: To evaluate safety, efficacy, and technical advantages of Amplatzer™ Trevisio™ intravascular delivery system (ATIDS) in percutaneous atrial septal defect (ASD) closure in children.Background: The Trevisio™ is a novel delivery system designed for accurate and facilitated implantation of Amplatzer™ devices. There are no published clinical reports so far.Methods: During September 2020, 9 children with anatomically challenging ASDs underwent attempted transcatheter closure using ATIDS to deliver Amplatzer™ Septal occluders (ASO). All interventions were performed under general anesthesia, trans-esophageal echocardiography (TOE), and fluoroscopic guidance. Standard safety, immediate, and 60-days outcomes were prospectively assessed.Results: The median age was 8.1 (5.1–16.9) years and the median bodyweight was 30 (18–63) kg. Six patients had isolated secundum-type ASDs with absent anterosuperior rims including one with an aneurysmal septum. Three patients had unclassical defects associated with complex congenital heart anomalies. Eight devices were delivered from the femoral vein and the jugular vein was accessed in one patient with interrupted inferior caval vein and azygos continuation. All implantations were successful. The shape, position, and orientation of the ASO were identical before and after release on TOE and fluoroscopy. There was no device embolization or serious complication following closure. Complete shunt closure was confirmed on follow-up.Conclusions: We report the first clinical experience with ATIDS in transcatheter ASD pediatric closures. Safety and efficacy were witnessed in our case-series. The major advantage of reduced-tension deployment and reliable precision in device positioning is highly beneficial in challenging anatomies and unusual access.

PREVALENCE OF CONGENITAL HEART DISEASE IN UMERKOT

Objective: To study the prevalence and the pattern of distribution of congenital heart disease.Study Design: Descriptive cross-sectional study.Place and Duration of Study: The study was conducted at outpatient department (OPD) of CMH Chhor and DHQ Umerkot, Sindh (Pakistan), from Dec 2019 to Mar 2020.Methodology: All the children (&lt;12 years age) presenting to Paediatric OPD of the two hospitals were enrolled into study. Any patient with either a history or clinical examination pointing towards a suspected congenital heart disease was referred to Paediatric Cardiologist for 2-D echocardiogram. Details of the patient were recorded on designated proforma.&#x0D; Results: A total of 273 patients were diagnosed with congenital heart disease. Out of these, 114 (41.7%) were female and 159 (58.2%) were male (male: female of 1.4:1). The age of the children was ranging from 2 months to 12 years, 153 (56.04%) had simple heart defects, while 120 (43.9%) had complex or multiple congenital heart anomalies. Amongst the 273 patients, 25.3% were cyanotic and 74.7% had acyanotic heart disease. Most common lesion identified was ventricular septal defect (29.6%), followed by Tetralogy of Fallot in 20.8%.&#x0D; Conclusion: Acyanotic heart defects confirms to the major bulk of congenital heart defects with male preponderance.

Congenital duodenal atresia associated with intrauterine intestinal volvulus and meconium peritonitis: A case report

Introduction. Duodenal atresia is one of the most common small bowel anomalies usually diagnosed in utero. We present a case of a newborn with duodenal atresia associated with intestinal volvulus and meconium peritonitis. Case Report. A premature newborn with a birth weight of 1970 g was admitted due to radiological signs of duodenal atresia. Intraoperatively, in addition to duodenal atresia, we found that almost all intestinal loops were adherent to each other and to the liver in the form of conglomerates, as a consequence of intestinal (jejunal) volvulus and meconium peritonitis. A minimal intestinal resection was performed with creation of duodeno-jejunal anastomosis. The postoperative course was prolonged due to serious complications including cardiac tamponade and sepsis. After 77 days, with full enteral feeding, spontaneous bowel movement, and after appropriate weight gain, the child was discharged from the clinic. Conclusion. Treating congenital anomalies of the newborn is a challenge, even for an experienced surgeon, especially when associated with premature birth and low birth-weight. Despite adequate surgical techniques and intensive treatment, complex congenital anomalies are associated with high morbidity and mortality rates.

Interdisciplinary management of nonsyndromic tooth agenesis in the digital age

Background and OverviewTooth agenesis is the most common congenital condition affecting the oral cavity. This condition can involve single or multiple missing teeth. Severe forms of tooth agenesis are best managed by a team of specialists, as they can be daunting for a single provider. Case DescriptionAs the goal of most patients is to replace missing teeth to improve cosmesis and function, a prosthodontist or restorative dentist plays a major role in the team’s effort. Although diagnostic skills and careful planning are still the mainstay of this treatment, digital technology and modern materials can greatly facilitate implementation of the treatment plan. The authors present a case of a patient with nonsyndromic oligodontia who had a deficient occlusal vertical dimension that was treated by means of an interdisciplinary approach. The management included a combination of orthodontics, fixed and removable prosthodontics, and oral surgery. Conclusions and Practical ImplicationsWhen treating patients with complex congenital tooth anomalies, the prosthodontist or restoring dentist is well positioned to take the lead and orchestrate treatment of the patient.

Image-quality optimization and artifact reduction in fetal magnetic resonance imaging.

Fetal MRI allows for earlier and better detection of complex congenital anomalies. However, its diagnostic utility is often limited by technical barriers that introduce artifacts and reduce image quality. The main determinants of fetal MR image quality are speed of acquisition, spatial resolution and signal-to-noise ratio (SNR). Imaging optimization is a challenge because a change to improve one scan parameter often leads to worsening of another. Moreover, the recent introduction of fetal MRI on 3-tesla (T) scanners to achieve better SNR can amplify some technical issues. Motion, banding artifacts and aliasing artifacts impact the quality of fetal acquisitions at any field strength. High specific absorption rate (SAR) and artifacts from inhomogeneities in the radiofrequency field are important limitations of high-field-strength imaging. We discuss technical barriers that impact image quality and are important limitations to prenatal MRI diagnosis, and propose solutions to improve image quality and reduce artifacts.

Extracorporeal Cardiopulmonary Resuscitation During Cesarean Delivery in a Patient With D-Transposition of the Great Vessels, Years Following Mustard Operation

Patients with surgically repaired complex congenital cardiac anomalies present unique characteristics that can make the implementation of extracorporeal membrane oxygenation (ECMO) support especially challenging. Very few series have reported the outcomes of ECMO support during pregnancy and peripartum. We report a case of successful extracorporeal cardiopulmonary resuscitation during cesarean delivery in a patient with surgically repaired d-transposition of the great arteries, and we discuss particular aspects that contributed to successful implementation of ECMO support and hospital discharge.

Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one-carbon metabolism networks.

BackgroundNeural tube defects (NTDs) are the second most common complex birth defect, yet, our understanding of the genetic contribution to their development remains incomplete. Two environmental factors associated with NTDs are Folate and One Carbon Metabolism (FOCM) and Glucose Homeostasis and Oxidative Stress (GHOS). Utilizing next‐generation sequencing of a large patient cohort, we identify novel candidate genes in these two networks to provide insights into NTD mechanisms.MethodsExome sequencing (ES) was performed in 511 patients, born with myelomeningocele, divided between European American and Mexican American ethnicities. Healthy control data from the Genome Aggregation database were ethnically matched and used as controls. Rare, high fidelity, nonsynonymous predicted damaging missense, nonsense, or canonical splice site variants in independently generated candidate gene lists for FOCM and GHOS were identified. We used a gene‐based collapsing approach to quantify mutational burden in case and controls, with the control cohort estimated using cumulative allele frequencies assuming Hardy–Weinberg equilibrium.ResultsWe identified 45 of 837 genes in the FOCM network and 22 of 568 genes in the GHOS network as possible NTD risk genes with p < 0.05. No nominally significant risk genes were shared between ethnicities. Using a novel approach to mutational burden we identify 55 novel NTD risk associations.ConclusionsWe provide a means of utilizing large publicly available sequencing datasets as controls for sequencing projects examining rare disease. This approach confirmed existing risk genes for myelomeningocele and identified possible novel risk genes. Lastly, it suggests possible distinct genetic etiologies for this malformation between different ethnicities.

Periosteal new bone formation in Klippel-Tr\xe9naunay syndrome: a case report

BackgroundKlippel-Trénaunay syndrome (KTS) is a complex congenital vascular disorder, typically accompanied by port-wine stains, varicose veins, and limb hypertrophy. This paper reports a rare and unusual clinical condition of periosteal reaction in a pediatric case of KTS. Although periosteal new bone formation is not rare in children, as is KTS, their dual occurrence or the presentation of the former due to KTS has not been previously documented. Our objective in this study is to highlight the potential association between periosteal new bone formation and KTS, as well as to help physicians consider this association when bone neoplasm has been ruled out.Case presentationA 7-year old girl, initially presented with a persistent mild swelling in her left shank, with no abnormalities in the X-ray of the tibiofibular. However, after a few consults and examinations, 7 weeks later, a 17 cm-long periosteal new bone formation along the left tibia and diffused dilated vessels in the left shank were revealed by the radiological examination. Not knowing the true nature of the fast-growing lesion in a typical case of KTS was worrying. Therefore, a core needle biopsy was performed. The test demonstrated a possible parosteal hemangioma. Following further investigation through an excisional biopsy, and a pathological analysis, hyperplasia of the bone tissues with no tumor cells was revealed. Thereafter, an elastic stocking treatment was prescribed. During the first two-year follow-up, recurrence of the mass or sign of progression of KTS was not observed.ConclusionsPeriosteal new bone formation is a potential manifestation of KTS. Based on the conclusive pathological results of the excisional biopsy, invasive examinations and surgeries could be avoided in future KTS-subperiosteal lesion manifestations.

Psychometric evaluation of the child attitude toward illness scale—sibling version

ABSTRACT The Child Attitude Toward Illness Scale (CATIS) is an established measure of how CSHCN perceive the impact of chronic conditions on their lives. We tested the psychometric properties of the CATIS adapted for use with siblings (CATIS-S) of youths with spina bifida (SB), a complex congenital birth defect. Confirmatory factor analysis (CFA) tested the factor structure of the CATIS-S in a sample of 208 adolescent siblings of youths with SB. Construct validity was ascertained by evaluating relationships between the CATIS-S and measures of psychosocial functioning. CFA yielded a 12-item two-factor solution comprised of an Emotion subscale ( = 0.85) and Social subscale ( = 0.76). Construct validity was indicated through significant associations between CATIS-Emotional and self-concept (r = 0.30, p < .001) and parent-perceived SB severity (r = −0.17, p = .01), as well as CATIS-Social and sibling conflict (r = −0.26, p < .001), behavior problems (r = −0.37, p < .001), and self-concept (r = 0.50, p < .001). Results provide preliminary support for a 12-item, two-factor version of the CATIS-S. Social workers can administer the CATIS-S to assess the psychosocial strengths and needs of youths who have siblings with SB and provide targeted interventions to those at-risk to improve their psychosocial functioning.

Approaches to studying the genomic architecture of complex birth defects.

Every year nearly 6 percent of children worldwide are born with a serious congenital malformation, resulting in death or lifelong disability. In the United States, birth defects remain one of the leading causes of infant mortality. Among the common structural congenital defects are conditions known as neural tube defects (NTDs). These are a class of malformation of the brain and spinal cord where the neural tube fails to close during the neurulation. Although NTDs remain among the most pervasive and debilitating of all human developmental anomalies, there is insufficient understanding of their etiology. Previous studies have proposed that complex birth defects like NTDs are likely omnigenic, involving interconnected gene regulatory networks with associated signals throughout the genome. Advances in technologies have allowed researchers to more critically investigate regulatory gene networks in ever increasing detail, informing our understanding of the genetic basis of NTDs. Employing a systematic analysis of these complex birth defects using massively parallel DNA sequencing with stringent bioinformatic algorithms, it is possible to approach a greater level of understanding of the genomic architecture underlying NTDs. Herein, we present a brief overview of different approaches undertaken in our laboratory to dissect out the genetics of susceptibility to NTDs. This involves the use of mouse models to identify candidate genes, as well as large scale whole genome/whole exome (WGS/WES) studies to interrogate the genomic landscape of NTDs. The goal of this research is to elucidate the gene-environment interactions contributing to NTDs, thus encouraging global research efforts in their prevention.

The Use of Inhaled Nitric Oxide in Congenital Diaphragmatic Hernia.

Congenital diaphragmatic hernia (CDH) is a complex congenital defect of the diaphragm that allows abdominal contents to herniate into the chest cavity, altering pulmonary development, and leading to pulmonary hypoplasia and hypertension. Patient presentation is variable in severity, making management difficult. Many common management strategies have improved the survival rate of infants with CDH, including gentle ventilation and permissive hypercapnia. Inhaled nitric oxide (iNO) is a potent, pulmonary vasodilator that has shown to improve oxygenation while decreasing pulmonary pressure in infants with pulmonary hypertension. While many institutions utilize iNO in the treatment of pulmonary hypertension, the role of iNO as a treatment for CDH is controversial. The purpose of this literature review is to establish a better understanding of CDH including embryology, patient presentation, and management strategies, and to analyze the use and effect of iNO on patients in this population. A systemic search of PubMed, CINHAL, and Medline was performed to identify research articles studying the use of iNO on patients with pulmonary hypertension secondary to CDH. Three studies were utilized in this review to assess the current use and effectiveness of iNO in patients with CDH. This review summarized the pathophysiology, embryology, patient presentation, and management strategies, as well as reviewed literature on the effectiveness of iNO on pulmonary hypertension secondary to CDH. Further research is indicated to determine alternative treatment modalities and establish evidence-based practice protocols to standardize care in infants with CDH.

SUCCESSFUL PERFORMANCE OF CARDIAC ELECTROPHYSIOLOGICAL PROCEDURES VIA A CONGENITAL INFERIOR VENA CAVA ANOMALY- REPORT OF 2 CASES

Background: Femoral vein access is the preferred approach for advancing multiple catheters via the inferior vena cava (IVC) to the heart during routine cardiac electrophysiology study and catheter ablation. Compared to acquired venous abnormalities, congenital inferior vena cava anomalies are encountered rather infrequently in adult electrophysiology procedures and their presence may pose technical procedural challenges. Presentation: We describe 2 cases in which we were able to successfully perform cardiac electrophysiological procedures in the presence of a complex congenital venous anomaly, the left sided IVC. First case was 30 year old gentleman presented with history of recurrent episodes of supraventricular tachycardia terminated with AV nodal blocking agents. Second case was 21 year old boy with WPW syndrome and recurrent supra-ventricular tachycardia. Diagnosis and Management: We managed to pass the EP catheters in both cases with a bit difficulty and angulation, while given I/V heparin to reduce the risk of thrombosis and confirmed the position of catheters via subclavian venous placement of a guidewire. In first case, typical AV node reentry tachycardia was induced which was mapped and ablated in the slow pathway region. In second case, right posterior accessory pathway was ablated at 6 0’clock. CT angiography of the abdominal veins was performed which confirmed the finding of left sided IVC. Follow-up and Outcomes: Abnormalities of the IVC are relatively uncommon. But it is an important condition that may be encountered by electrophysiologist. Catheter ablation of the slow AV nodal pathway and right posterior accessory pathway was safely and successfully performed with this unusual venous anomaly. Keywords: SVT, LEFT IVC, RFA

Amniotic band syndrome: a case series

Amniotic band syndrome (ABS) is a rare congenital disorder which involves fetal entrapment in strands of amniotic tissue, which can manifest as constriction rings, limb and digital amputations or complex congenital anomalies and sometimes results in stillbirth. Etiopathogenesis is varied and ABS can be associated with syndromes. Antenatal diagnosis is made by ultrasonography in most cases. Postnatal examination reveals constrictions, amputations and craniofacial or abdominal wall defects. Treatment is case based and surgical intervention is required to release constriction rings. Authors report here six cases (one stillbirth and five live births) of amniotic band syndrome that were encountered over the last one and half years.

Truncus Arteriosus - modified Van Praagh\u2019s Type 3A and Anesthesia: a case report.

BackgroundOne of the rare complex congenital anomalies is truncus arteriosus—modified Van Praagh’s type 3A. Survival of this type of truncus arteriosus child beyond infancy without surgical treatment is unreported. Anesthesiologists do anesthetize children with complex congenital heart disease during the cardiac catheterization study. The final diagnosis of such children is often made after the anesthesia and cardiac catheterization study. We report a 12-year-old with truncus arteriosus with absent right pulmonary artery and main pulmonary artery with multiple Major Aorto-Pulmonary Collateral Arteries. (MAPCAs) for the right lung, who is surviving without surgical treatment.Case presentationA 12-year-old girl was brought by her parents to Meenakshi Hospital at Thanjavur (India) with complaints of shortness of breath during respiratory infection. The patient was diagnosed to have congenital heart disease at 6 years of age and not on any treatment. There was no history of cyanotic spell. Her echocardiography revealed tetralogy of Fallot, situs solitus, levocardia, large mal-aligned ventricular septal defect with bidirectional shunt, VSD size 12 mm, pulmonary atresia, moderate tricuspid regurgitation (TR pressure gradient, 103 mmHg), thickened aortic valve, grade II aortic regurgitation, right ventricular hypertrophy, intact interatrial septum, dilated right atrium/right ventricle, dilated coronary sinus, and persistent left superior vena cava, good biventricular function 65%, multiple MAPCAs, no coarctation of aorta, normal veno atrial, atrio-ventricular connections, normal pulmonary venous drainage, and no pericardial effusion. She underwent cardiac catheterization study for further evaluation under anesthesia. Her final diagnosis was truncus arteriosus with absent right pulmonary artery and main pulmonary artery with multiple MAPCAs for right lung, (truncus arteriosus—modified Van Praagh’s type 3A).ConclusionAn anesthesiologist may be encountering such patients during cardiac catheterization study or emergency non-cardiac surgery, where an understanding of the complex anatomy (the aorta, left pulmonary artery, coronary artery, all arising from the common arterial trunk, the truncus arteriosus) and the physiology of their circulation would help in safe anesthesia. From our report, we conclude intra venous ketamine along with regional analgesia would be safe for sedating such patients coming for cardiac catheterization study.