Scimitar Syndrome Research Articles

Scimitar syndrome and distal tracheoesophageal fistula with esophageal atresia (type III b): a case report of diagnostic and therapeutic approach

Scimitar syndrome is a rare congenital heart defect (CHD) manifested by a partial abnormal inflow of pulmonary veins of the right lung into the suprahepatic segment of the inferior vena cava (VCI), making an angiographic image with the right heart edge similar to a Turkish saber (“scimitar”). It is found in only 1 to 3 per 100,000 births. Here we are presenting a patient who, in addition to the basic finding and presentation of a special partial anomalous inflow of pulmonary veins, also had other features of the Scimitar syndrome; dextroposition of the heart, without signs of heterotaxy, hypoplasia of the right lung, aberrant arterial supply of the right lung from the descending aorta (lung sequestration) with all hemodynamic signs of left-right flow (dilated right heart cavity and pulmonary artery), but without pulmonary hypertension. In addition, the patient had esophageal atresia with distal tracheoesophageal fistula (TEF). Treatment included operative occlusion of TEF with termino-terminal esophageal anastomosis. In the further course, esophagography revealed circular esophageal stenosis at the anastomosis site, but without the need for dilatation, which resolved spontaneously. Tracheotomy was needed due to the inability to separate from mechanical ventilation. Considering cardiopulmonary stability and the absence of pulmonary hypertension, a complete cardiosurgical correction was postponed to after the first year of life. The review is exceptional due to the concomitant occurrence of a TEF Vogt type IIIb, because the unusual combination of Scimitar syndrome with such type of TEF has not been described in the literature so far. To our knowledge, there is only one described case report with an H-type of TEF.

Adult congenital horseshoe lung with bilateral pulmonary sequestration: A case report

Horseshoe lung (HL) is an infrequent congenital lung anomaly. Its main feature is that the lower lungs on both sides extend behind the pericardium and fuse across the midline, usually accompanied by pulmonary dysplasia. It is reported that 80% of HL is relevant to the abnormal return of some pulmonary veins from the right lung to the inferior vena cava or right atrium (scimitar syndrome). Most patients are within 5years old, most commonly within 1 year old, but HL may also have no apparent clinical symptoms or mild symptoms. This case is a 36-years-old adult female who developed left chest pain more than a month ago and continued to worsen for 10days. The patient also had repeated pulmonary infection with cough and expectoration.

Time-Saving and Successful Palliative Treatment for Scimitar Syndrome

Time-Saving and Successful Palliative Treatment for Scimitar Syndrome

Time-Saving and Successful Palliative Treatment for Scimitar Syndrome

Time-Saving and Successful Palliative Treatment for Scimitar Syndrome

An incidentally detected Partial Anomalous Pulmonary Venous Connection (PAPVC) into supra hepatic IVC- Scimitar syndrome: A case report

Anomalous Pulmonary venous connection is drainage of one or more pulmonary veins outside of left atrium. Anomalous Pulmonary Venous Connection is most common on Left side left upper pulmonary vein drains directly into left innominate vein to ultimately drain into right atrium. Right side Partial Anomalous venous drainage can be into Superior Vena Cava, Right Atrium, Innominate vein or rarely Inferior Vena Cava.

Proximal Interruption of Pulmonary Artery: Spectrum of Radiological Findings With Emphasis on Chest Radiograph and Contrast-Enhanced Computed Tomography (CECT).

Introduction Proximal interruption of pulmonary artery (PIPA) is a congenital anomaly presenting withaberrant termination of the pulmonary artery at the hilum. It results in a variety of radiological andclinical manifestations. Clinically, isolated PIPA can be asymptomatic till late adulthood or can present with dyspnoea, chest discomfort, hemoptysis and recurrent infections. PIPA can be associated with multiple cardiovascular anomalies such as tetralogy of Fallot (TOF), ventricular septal defects (VSD), and scimitar syndrome. We present a spectrum of cases with both isolated proximal interruption of the pulmonary arteryand cases associated with other cardiovascular abnormalities.Typical chest radiographs and chest contrast-enhanced computed tomography (CECT) findings are discussed and demonstrated in detail.Proper and early diagnosis is a crucial step as it can significantly modify the treatment choice, thereby reducing morbidity. Objective To document the different presentations of the proximal arrest of pulmonary arteries, to document associations with cardiovascular and pulmonary manifestations, and to elaborate on and demonstrate the various radiological imaging findings. Material and methods All the cases that were reported with proximal interruption of pulmonary artery on the CECT studies conducted between 2019 and 2022 at a tertiary care hospital in Telangana, India. The demographic data, clinical presentation, chest radiographs, and chest CECT were collected retrospectively. Data analysis was done using Microsoft Excel 2019 to calculate descriptive statistics.A total of 22 cases were identified of which three cases were excluded of as they were previously operated and 19 cases were taken as the study population. Results Nineteen patients were included in the study. Demographic details, clinical history, CECT, and chest radiographs were collected wherever available. The majority of the cases belonged to the ≤ 10 yrs age group with the most common clinical presentation being a previous diagnosis of tuberculosis or recurrent upper respiratory tract infections. The predominant findings on chest radiographs were deviation of the trachea to the affected side, volume loss in the ipsilateral lung field, and compensatory hyperinflation of the contralateral lung field. On the CECT chest, the main findings were interrupted pulmonary artery, hypoplastic lung fields with bronchiectasis, or ground glassing. Associated cardiovascular and pulmonary malformations were identified with notable cases: TOF, right-sided aortic archand scimitar syndrome. Their typical imaging findings have been elucidated and discussed in detail. Conclusions Patients with recurrent respiratory infections or hemoptysis having hypoplastic lung field with hyperinflation of the contralateral lung on chest radiographs should be evaluated for pulmonary artery interruptions. Chest CECT allows evaluation of the bronchial tree and lung parenchyma at the same time which helps distinguish pulmonary interruption from conditions such as Swyer-James-Macleod syndrome, pulmonary hypoplasia, thromboembolismand arteritis. Cases with PIPA can also be associated with cardiovascular and pulmonary anomalies such as TOF, partial anomalous pulmonary venous connection (PAPVC), and VSD. The knowledge of these associations is essential as they can influence the mode of treatment and can help reduce the long-term morbidity and mortality associated with the condition.

Off-label Use of ADO II® in the Closure of Various Congenital Heart Defects

Devices may be used for special purposes different than their production purpose. For instance, Amplatzer Ductal Occluder is actually designed for duct closure and its usage for closing defects other than ductus is named as off-label. The aim of this study is to emphasize off-label use of device: not only for PDA and VSD but also for other various defects. This study is designed retrospectively, performed by the evaluation catheterization records of patients in whom ADO II and ADO II-AS devices were used in Erciyes University Medical Faculty Children Hospital, Pediatric Cardiology Department between 2011 and 2018. Patients’ demographic criteria: age, weight at the time of procedure was gathered. The diagnosis, size of device, follow-up period and complications were also noted. From April 2011 to March 2018, a total of 121 patients underwent transcatheter closure by ADO II and 66 patients by ADO II AS. The number of PDA closure with ADO II was 48; with ADO II AS were 62. Rest of the procedures were all off-label. Types of off-label procedures performed were: VSD closure, residual mitral cleft closure, Aorta-Right atrium tunnel closure, pulmonary arteriovenous fistula occlusion, aorta-pulmonary window closure, and occlusion of the artery feeding accessory lobe in scimitar syndrome, Gerbode defect occlusion. Up to our knowledge; this study includes the largest pediatric case series with various different congenital heart defects which were closed with ADO-II. Also our ADO-II occluded VSD case series is one of the largest series in the literature with almost 6 years’ follow-up. We believe in that ADO-II device may be an alternative in percutaneous closure of various rare heart defects. It is used successfully for non-ductal defects with low complication and high compliance rates.

The Lugones Procedure for Scimitar Syndrome Repair Through Right Axillary Thoracotomy: Not Only a Cosmetically Superior Approach.

Several surgical strategies to deal with scimitar syndrome have been described over the years. Among them, the technique described by Lugones and coworkers in 2014 has gained attention due to its simplicity, reproducibility and excellent results. Following the original report of the procedure, the defect is usually repaired through a midline sternotomy. Here, we describe an alternative approach using a right axillary thoracotomy, which not only exhibits superior cosmetic results but allows for an excellent view of all relevant anatomic structures.

Fetal Diagnosis of Scimitar Syndrome in the Presence of Complex Congenital Heart Disease.

Fetal diagnosis of scimitar syndrome requires a high index of suspicion. We present two fetal cases of complex congenital heart disease associated with scimitar syndrome, one of them is diagnosed with scimitar syndrome in utero. We emphasize prenatal echocardiographic findings that may assist with arriving at the correct prenatal diagnosis. We also discuss potential challenges in suspecting the presence of scimitar syndrome in utero. The postnatal echocardiographic findings and course are described for both patients. We reviewed the available literature on prenatal diagnosis of scimitar syndrome in the presence of complex congenital heart disease. We describe a new association of VACTERL, imperforate anus, scimitar syndrome, and double-outlet right ventricle all on the same patient, as well as the first prenatal diagnosis of scimitar syndrome associated with hypoplastic left heart syndrome with restrictive atrial septum. Advanced imaging modalities such as a fetal lung Magnetic Resonance Imaging is suggested as a confirmatory test when scimitar syndrome is suspected in utero in the presence of complex congenital heart disease.

Scimitar Syndrome with Different Features in Pediatric Patients: A Single-Center Experience

Purpose: Scimitar syndrome is a rare congenital cardiac anomaly in which pulmonary veins are drained to the inferior vena cava (IVC) instead of the left atrium and it is often associated with additional cardiac and pulmonary anomalies. Scimitar syndrome has a wide range of anatomic and clinical variations. In this article, the different clinical features of five pediatric patients with Scimitar syndrome are reported.
 Material and methods: Five patients with scimitar syndrome were diagnosed in our hospital between 2000 and 2020. The clinical findings, angiographic and surgical procedures, and follow-up of the patients are evaluated.
 Results: Five pediatric patients aged between 1.5 months and 10 years were diagnosed as Scimitar syndrome; two of the five patients were infants. All patients were symptomatic. One patient had cor triatriatum and pulmonary venous stenosis, one patient had left atrial isomerism and absence of the IVC (azygous continuity), and another patient had coarctation of the aorta. One patient had dual drainage: the IVC and left atrium with meandering pulmonary veins, which we determined as a Scimitar variant. One infant patient with pulmonary hypertension and two patients with pulmonary to systemic flow ratio (Qp/Qs) >1.5 were treated surgically with the reanastomosis technique. Transcatheter occlusion of the aortopulmonary collaterals was performed in two patients using vascular plugs, coils, and onyx.
 Conclusion: In this article, the clinical findings of five pediatric patients with Scimitar syndrome were evaluated in detailed. Treatment should be planned individually in this syndrome due to Scimitar syndrome has a wide range of anatomic and clinical variations.

Short- and mid-term outcome of transcatheter embolization of pulmonary sequestration in children: A single-center 22-years experience

A pulmonary sequestration (PS) is a non-functioning bronchopulmonary tissue, not connected to the tracheobronchial tree and receiving arterial supply from the systemic circulation. Recently, transcatheter embolization of the feeding arteries has been reported as an effective and minimally invasive option but large series on outcomes in children are scarce. We aimed to evaluate the efficacy of endovascular embolization of PS and report short- and mid-term outcomes. Single-center retrospective clinical data review of all children referred to Cath lab at M3C-Necker-Enfants–Malades hospital for PS between Jan-1999 and May-2021. Demographic, clinical and procedural data were collected at baseline and at follow-up. Seventy-one patients were included. Median age and weight were 4.9 months (IQR: 2.1–26.6) and 4.2 kg (IQR: 3.9–12.1) respectively. Sixty-one (86%) patients had CHD, of which 47 had scimitar syndrome. Fifty-three (74.7%) patients had transcatheter embolization of PS. At baseline, 36 (68%) patients had PHT. One (1.4%) procedural death was reported. Two (2.8%) patients had PS surgical ligation that was too large for embolization. No patient needed PS surgical resection. Median follow-up was 36.4 months (IQR: 2.1–89.9) without residual shunt. Eight (11.3%) patients died with a median delay of 2.2 (IQR: 1.3–14.4) months after the procedure. Death was related to complex CHD. Thirty-one (86.1%) patients from those who had PHT became (PHT-Free) at last FU. Endovascular treatment of PS in children is safe and effective therapeutic option with very good short- and mid-term results leading to improvement in survival rates and to significant decrease in pulmonary hypertension.

The turkish sabre

Scimitar syndrome manifesting in adulthood can easily be overlooked owing to mild symptoms. Once diagnosed, operative correction should not be delayed as it can cause severe right heart dysfunction. There are several surgical approaches to recreating normal flow conditions. To identify the best suitable method, one needs to take into account the individual patient’s anatomy.

Treatment and prognosis of Scimitar syndrome: A retrospective analysis in a single center of East China.

BackgroundScimitar syndrome is a rare congenital cardiovascular malformation; its optimal management remains controversial. This study aims to present the clinical experience of this disease in our center.MethodsWe undertook a retrospective review of 34 patients with Scimitar syndrome documented at our institution between January 2013 and December 2018. The patients' clinical characteristics, management, and prognosis data were collected and analyzed.ResultsThirty-four patients, including 16 males and 18 females, were enrolled with a median age at diagnosis of 7 months and a follow-up period of 22.5 months. The infantile form of Scimitar syndrome presents more tendency for pulmonary hypertension (PH), pulmonary vein stenosis (PVS), and mortality than the adult form. Of the 15 patients who underwent surgical correction of the Scimitar vein, four had post-operation PVS. There was no significant difference in the stenosis incidence between baffle repair and Scimitar vein reimplantation groups. Eight patients received interventional catheter therapy, including occlusion of aortopulmonary collateral arteries (APCs) and other intracardiac malformations, without the following surgery. The overall mortality rate was 20.5% (7 of 34) over the study period. High-risk factors of death included age at diagnosis (p = 0.000), PH (p = 0.007) and PVS (p = 0.014).ConclusionsInfantile Scimitar syndrome needs intense suspicion for early diagnosis and multidisciplinary treatment. Interventional treatment of Scimitar syndrome alleviates pulmonary artery pressure and progression during infancy. Baffle repair and direct reimplantation of the Scimitar vein used in the surgical treatment of Scimitar syndrome are safe and have similar effects. Age at diagnosis, PH, and PVS are high-risk factors for death in Scimitar syndrome.

MYRF: A New Regulator of Cardiac and Early Gonadal Development-Insights from Single Cell RNA Sequencing Analysis.

De novo variants in the myelin regulatory factor (MYRF), a transcription factor involved in the differentiation of oligodendrocytes, have been linked recently to the cardiac and urogenital syndrome, while familiar variants are associated with nanophthalmos. Here, we report for the first time on a patient with a de novo stop-gain variant in MYRF (p.Q838*) associated with Scimitar syndrome, 46,XY partial gonadal dysgenesis (GD) and severe hyperopia. Since variants in MYRF have been described in both 46,XX and 46,XY GD, we assumed a role of MYRF in the early development of the bipotential gonad. We used publicly available single cell sequencing data of human testis and ovary from different developmental stages and analysed them for MYRF expression. We identified MYRF expression in the subset of coelomic epithelial cells at stages of gonadal ridge development in 46,XX and 46,XY individuals. Differential gene expression analysis revealed significantly upregulated genes. Within these, we identified CITED2 as a gene containing a MYRF binding site. It has been shown that Cited2−/− mice have gonadal defects in both testis and ovary differentiation, as well as defects in heart development and establishment of the left–right axis. This makes MYRF a potential candidate as an early regulator of gonadal and heart development via upregulation of the transcriptional cofactor CITED2.

Surgical and Cardiac Catheterization Outcomes of Scimitar Syndrome Patients: A Three Decade Single-Center Experience.

Scimitar syndrome (SS) is a rare congenital condition which includes partial anomalous pulmonary venous return (PAPVR) and a variable degree of pulmonary hypoplasia. We describe the clinical features, therapeutic approach and outcomes of patients who underwent cardiac catheterization and/or surgical repair of the scimitar vein at a single institutionin the United States. This retrospective cohort study included all patients with SS who underwent scimitar vein surgical repair or cardiac catheterization from October 1989 through August 2021 in a tertiary care center. A total of 84 patients with SS were included and median follow-up time was 74months. Patients diagnosed with SS under the age of one year had a significantly greater incidence of congenital heart defects (CHD) (p < 0.001), non-cardiac anomalies (p = 0.02), pulmonary hypertension (p = 0.02), and mortality (p = 0.04) compared to those diagnosed over the age of 1year. Twenty-eight patients underwent surgical repair of the scimitar vein. Overall, eight (10%) patients died. Compared to surviving patients, deceased patients had a significantly higher incidence of pulmonary hypertension (PH), neonatal SS diagnosis, and extracorporeal membrane oxygenation (ECMO) support. Median scimitar vein pressure (20mmHg) of deceased patients was significantly higher compared to pressures in surviving patients (11mmHg; p = 0.02). PH, CHD, neonatal SS diagnosis, ECMO support, and markedly elevated scimitar vein pressure are associated with mortality. Scimitar vein surgical repair during infancy is commonly associated with PH and restenosis that requires re-intervention.

Scimitar Syndrome: About A Case Report and Review of the Literature

Scimitar syndrome or Felson's veno-lobar syndrome is a very rare condition, characterised by the association of cardiopulmonary abnormalities namely an abnormal right pulmonary venous return which is most commonly located in the inferior vena cava. We present an observation of a seven-month-old female infant who presented with acute dyspnoea. The diagnosis was suspected on chest X-ray and confirmed on CT scan which showed a single large right pulmonary vein draining into the right atrium with a scimitar pattern in sagittal section associated with dextrocardia and pulmonary sequestration. The prognosis is related to the extent of the left-right shunt and associated malformations.

Scimitar Syndrome in a Newborn

Introduction: Scimitar syndrome is a rare congenital condition that is usually presented in two major types, the infantile type as a severe condition with a poor outcome (median age: 2 months) and the adult type with a better condition and good outcome. It also has a wide spectrum of clinical presentations, from being asymptomatic in the adult type to cardiac and respiratory failure and pulmonary hypertension in the infantile type. Case Presentation: In this case report, we present a 43-day-old female case referred to Taleghani Children Hospital, Gorgan, Iran, with respiratory symptoms. In a physical examination, the case had a grade II/VI murmur, dextrocardia, and respiratory distress. In evaluations, the patient had severe stenosis proximal to the left common carotid artery after its origin. The heart and mediastinum were displaced to the right side, and the thoracic aorta was normal in size and orientation. bovine type of supra-aortic arch branches in the left-sided aortic arch, hypoplasia of the right upper lobe with severe hypoplasia of the right lower lobe were seen as well. There was sequestration adjacent to the right lower lobe with a dual feeder artery directly from the abdominal aorta and celiac branch and dual draining veins. Partial anomalous pulmonary venous connection was detected in the neck, and mediastinal computed tomography (CT) angiography with reconstructed views.. Bronchoscopy revealed right main bronchus hypoplasia and right lower lobe hypoplasia. Then, with the help of angiography, scimitar syndrome diagnosis was confirmed for the patient. Conclusions: Although scimitar syndrome is an uncommon condition, it has serious complications and poor outcomes in some patients. It is necessary to be aware of this rare congenital condition and use helpful methods, such as CT angiography and angiography, to confirm the diagnosis.

Scimitar syndrome with late presentation

Scimitar syndrome with late presentation

Hypogenetic Right Lung with Partial Anomalous Pulmonary Venous Return (PAPVR) Without the Typical Features of “Scimitar” Sign

The partial anomalous pulmonary venous return (PAPVR) aka partial anomalous pulmonary venous connection (PAPVC), is a rare congenital cardiovascular condition in which some of the pulmonary veins, drain into the systemic circulation (Halasz, 1956). While congenital, there is no known cause was attributed for these conditions and may possibly be multifactorial in origin. Scimitar syndrome, first described by Raoul Chassinat in 1836, is a variant of the PAPVR and PAPVC characterized by an abnormal pulmonary venous return of the right lung into the inferior vena cava or right atrium via the superior vena cava (SVC), thus a left‐to‐right shunt. Hypoplasia of the pulmonary arteries and abnormal bronchial branching accompany this syndrome and the abnormal venous drainage involves the right side.This report is based on the cadaveric dissection of a 71‐year old Caucasian male donor who died of chronic obstructive pulmonary disease/hypertension. We noted a faint incisional scar on the thorax, there was an incision extending from the parasternal region at the 4th intercostal level to the midaxillary line. Considering the straight‐line incision followed the ribs and the faintness of the scar was faint, we believe the surgery was done when the donor was young. We also observed numerous surgical interventions of the heart, lungs and vasculature to correct various defects.The morphology of the heart was normal, but was shifted more to the right side. An atrial septal defect (ASD) was closed with sutures. The right superior pulmonary vein that drained into the SVC was ligated close to the SVC. We noticed a dilated coronary sinus entering the right atrium adjacent to the ASD and the ostium of the coronary sinus noticeably lacked the normal valve like structure. We initially thought the right lung was a “horseshoe” lung but realized that it was a “hypogenetic” lung with PAPVR and an accessory diaphragm. The right secondary bronchi were much narrower compared to the left and branched uncharacteristically as seen in hypogenetic lung syndrome. The inferior lobe was highly disorganized, severely hypoplastic and exhibited uncharacteristic morphology. The superior bronchopulmonary segment was markedly hypoplastic. The medial basal segment was not only hypoplastic and slender but extended like a tail to the left pulmonary cavity behind the heart/pericardium and in front of esophagus and aorta. The right lung though hypoplastic, demonstrated patent bronchi and the lobes were inflatable. The superior pulmonary vein from the right upper and middle lobes drained directly into the SVC and the inferior right pulmonary vein from the lower lobe drained into the left atrium. The left superior and inferior pulmonary veins drain directly into the left atrium.The poster will illustrate numerous images as described in our results, discuss the embryology of pulmonary veins, hypogenetic lung, “scimitar” syndrome and accessory diaphragm. To sustain life, all the defects were corrected in childhood which allowed the donor to live for 71 years.

Partial Anomalous Pulmonary Venous Connection With Intact Atrial Septum: Early and Midterm Outcomes

BackgroundPartial anomalous pulmonary venous return with intact atrial septum warrants greater understanding and evaluation in the literature. MethodsFrom January 1993 to December 2018, 293 patients with partial anomalous pulmonary venous return underwent surgical repair. Of these, 45 patients (15.3%) had an intact atrial septum. The median age was 36 years (interquartile range, 24-48). Direct reimplantation was used in 17 patients (38%), intracardiac baffling in 15 (33%), and caval division (Warden) technique in 13 (29%). Descriptive statistics were used to assess the data, and Kaplan-Meier analysis was used to assess survival. ResultsAnomalous veins were right-sided in 27 patients (60%), left-sided in 16 patients (36%), and bilateral in 2 patients (4%). The insertion sites were the superior vena cava in 23 patients (51%), innominate vein in 12 (27%), inferior vena cava in 6 (13%), coronary sinus in 2 (4%), right atrium in 1 patient (2%), and unknown in 1 patient (2%). Scimitar syndrome was noted in 8 patients (18%). There was no postoperative mortality or residual defects. Postoperative echocardiography excluded any obstruction of pulmonary or systemic veins. Postoperative complications included atrial fibrillation in 9 patients (20%) and pneumothorax requiring chest tube in 5 patients (11%). Survival at 1, 5, and 10 years was 100%, 95%, and 95%, respectively. Two patients underwent pulmonary vein dilation, one at 3 years and the other at 7 years. ConclusionsSurgical repair of partial anomalous pulmonary venous connection with intact atrial septum can be performed with excellent early and midterm outcomes. The overall incidence of midterm systemic or pulmonary vein stenosis is low.