Scimitar Syndrome Research Articles

Infantile scimitar syndrome with severe pulmonary hypertension with novel 3p26 microdeletion/12q23–24 microduplication: Case report and literature review

Infantile scimitar syndrome with severe pulmonary hypertension with novel 3p26 microdeletion/12q23–24 microduplication: Case report and literature review

Asymptomatic Scimitar Syndrome in Adults

Asymptomatic Scimitar Syndrome in Adults

Prenatal diagnosis of scimitar syndrome.

Prenatal diagnosis of scimitar syndrome.

Transcatheter Embolization in Congenital Cardiovascular Malformations—Variable Use of Vascular Plugs

Objective: The objective of this study is to evaluate the clinical application and primary outcome of transcatheter embolization using Amplatzer™ Vascular Plug (AVP) Type 2 and Type 4 in different congenital cardiovascular malformations.Design: This is a single-center retrospective observational cohort study.Methods: We analyzed clinical and imaging data of 36 patients retrospectively who received transcatheter embolizations of the following malformations using AVP: systemic-to-pulmonary collateral arteries (SPCA), patent ductus arteriosus (PDA), ventricular septal defects (VSD), and aberrant pulmonary sequestration arteries (PSA). We included all patients treated in our institution from January 2010 to July 2023.Results: In 36 patients (median age 40.0 months, range 0.5 months–42.0 years; 56.8% male), 44 AVPs were implanted in 37 procedures. The target lesions were SPCA in n=15 procedures, PDA in n=9, VSD in n=9, and PSA in n=4. Thirty-four AVP Type 2 and 10 AVP Type 4 were applied, the latter only in SPCA and PSA. SPCA was most common in complex congenital heart disease with univentricular physiology (75.0%). VSD were associated with additional cardiac malformations in 33.3%, PDA were associated with prematurity (55.6%), and all pulmonary sequestrations occurred in scimitar syndrome. Primary total or subtotal occlusion succeeded in n38/44 (86.3%). For residual PDA, an additional occluder was implanted in one patient. In one case, pulmonary sequestration had to be treated surgically. One premature infant with PDA closure sustained a relevant obstruction of the left pulmonary artery by the outer AVP disc which required surgical correction 4 months later.Conclusion: Embolization using AVP is a suitable approach for closure of various cardiovascular malformations with a high primary success rate and low complication rate. It should be considered in treatment of different irregular vessel anomalies and in selected VSD.

Congenital Lung Malformations: A Pictorial Review of Imaging Findings and a Practical Guide for Diagnosis.

The term congenital lung malformation (CLM) is used to describe a wide range of pathological conditions with different imaging and clinical manifestations. These anomalies stem from abnormal embryological lung development, potentially occurring across various stages of prenatal life. Their natural history can be variable, presenting in a wide range of severity levels and encompassing asymptomatic individuals who remain so until adulthood, as well as those who experience respiratory distress in the neonatal period. Through the PubMed database, we performed an extensive review of the literature in the fields of congenital lung abnormalities, including their diagnostic approach and findings. From our RIS-PACS database, we have selected cases with a final diagnosis of congenital lung malformation. Different diagnostic approaches have been selected, including clinical cases studied using plain radiograph, CT scan, prenatal ultrasound, and MR images. The most encountered anomalies can be classified into three categories: bronchopulmonary anomalies (congenital pulmonary airway malformations (CPAMs), congenital lobar hyperinflation, bronchial atresia, and bronchogenic cysts), vascular anomalies (arteriovenous malformation), and combined lung and vascular anomalies (scimitar syndrome and bronchopulmonary sequestration). CLM causes significant morbidity and mortality; therefore, the recognition of these abnormalities is necessary for optimal prenatal counseling and early peri- and postnatal management. This pictorial review aims to report relevant imaging findings in order to offer some clues for differential diagnosis both for radiologists and pediatric consultants.

Scimitar Syndrome in a Pediatric Cohort.

Scimitar syndrome is a rare form of congenital heart disease (CHD) characterized by anomalous pulmonary venous drainage of the right lung to the inferior vena cava. We describe the presentation, diagnosis, therapeutic management and long-term follow-up of 10 pediatric patients with Scimitar Syndrome. We performed a retrospective observational study of all pediatric patients from our institution with scimitar syndrome (March 1996-July 2023). Patients underwent systematic evaluation including medical and family history, chest x-ray, 12-lead electrocardiogram, echocardiogram, angiography and/or computed tomography; or magnetic resonance angiography. Ten patients with scimitar syndrome were included. The median age at diagnosis was 10.4 [0.1-150.2] months and the median follow-up time was 7.7 [1.3-15.3] years. Eight patients presented with aortopulmonary collateral arteries which were embolized. Two patients had dual connections to the inferior vena cava and left atrium; embolization of the inferior vena cava connection was only feasible in one of them. No patients underwent surgery of the scimitar vein. Three patients had surgical correction of CHDs. There were no deaths related to scimitar syndrome during follow-up. All patients with scimitar syndrome need prompt cardiovascular evaluation and follow-up. Our study demonstrates that a conservative approach with aortopulmonary collateral artery embolization, scimitar vein embolization when dual drainage to the left atrium is identified, along with correction of concomitant CHDs might have good results in patients with scimitar syndrome in order to postpone surgical correction of the anomalous pulmonary venous return to an older age when clinically or hemodynamically indicated. Further studies with longer-term follow-up and a larger sample size are needed to more effectively determine treatment strategy.

Eleven Years After Scimitar Syndrome Repair With the Lugones Technique: Usefulness of Four-Dimensional Flow Magnetic Resonance Imaging.

Anatomic and physiologic assessment of surgical repair of scimitar syndrome can be challenging. We evaluated the first patient who underwent the Lugones procedure in 2012 using 4D flow magnetic resonance imaging. With this technology, we demonstrate that the reconstructed right pulmonary venous return drains into the left atrium with laminar flow, just as normal pulmonary veins do.

Clinical characteristics, imaging findings, management, and outcomes of patients with scimitar syndrome at a tertiary referral healthcare center in Colombia

Scimitar Syndrome is part of a complex spectrum of congenital cardiovascular anomalies related to anomalous pulmonary venous return. Depending on the extent of involvement, treatment can be either expectant or surgical. Prognosis and survival have been controversial, with some results supporting early surgical management. This research aims to disclose the outcomes and describe the management, clinical and imaging characteristics of patients diagnosed with Scimitar Syndrome treated in a tertiary referral healthcare center. Longitudinal descriptive observational study. The study included all patients diagnosed with scimitar syndrome in our institution between January/2011 and December/2022. A description of the sociodemographic and clinical characteristics, diagnostic tools used, treatment features, and patient outcomes is provided. Eleven patients were included, with a mean age at diagnosis of five years (CI 0–17), six of which were female (54.55%). Nine (81.82%) patients had evidence of a scimitar vein on the chest radiograph, six (54.55%) cardiac dextroposition, six (54.55%) pulmonary hypoplasia, five (45.45%) right pulmonary artery hypoplasia, and three (27.27%) had aortopulmonary collaterals. Four (36.36%) patients had horseshoe lungs, and four (36.36%) had bronchopulmonary sequestration. In the associations, two (18.18%) patients were found to have an atrial septal defect, three (27.27%) ventricular septal defect, and one (9%) had Tetralogy of Fallot. Pulmonary hypertension was demonstrated in two (18.18%) patients. Seven (63.64%) required surgical management to correct the scimitar vein, and two patients died due to unrelated complications. Scimitar syndrome presents diagnostic and treatment challenges, necessitating a multidisciplinary approach for timely care. Chest radiography and CT scans are primary diagnostic tools, with surgical intervention often warranted alongside other heart defects or significant hemodynamic repercussions. Medical management is effective for mild to moderate cases. Long-term patient outcomes remain uncertain due to study limitations, but improved life expectancy is anticipated with ongoing care.

ALCAPA in Children with Complex Congenital Heart Disease: A Multicenter Study.

We sought to report characteristics and outcomes of children with complex anomalous left coronary artery from the pulmonary artery (ALCAPA) and tocompare the outcomes to children with isolated ALCAPA. We performed a retrospective data analysis of children with ALCAPA who underwent cardiac surgery between 1/2009 and 3/2018 at 21 centers. Characteristics and outcomes of patients with complex ALCAPA are provided using descriptive statistics. Outcomes were compared between complex ALCAPA and isolated ALCAPA using Fisher's exact test. We reviewed 258 patients who underwent surgical repair of ALCAPA at 21 centers. We identified 10 patients (3.9%) with complex ALCAPA. Median age at initial cardiac surgery was 49days (range: 4days, 12.8years). Cardiac lesions associated with ALCAPA were HLHS(n = 3); scimitar syndrome (n = 2); VSD with aortic coarctation (n = 2); VSDwith right pulmonary artery discontinuity (1); DORV with mitral atresia (n = 1); and ToF(n = 1). ALCAPA was diagnosed prior to surgical intervention in 1 patient; during the initial cardiac surgery in 4 patients; in the early postoperative period via cardiac catheterization in 3 patients; and later in childhood after initial surgical repair in 2 patients. Following ALCAPA repair, patients with complex ALCAPA, as compared to patients with isolated ALCAPA, were more likely to be placed on ECMO (50% vs 12%, p = 0.002), receive CPR (30% vs 6%, p = 0.017), or suffer operative mortality (50% vs 3%, p < 0.001). Complex ALCAPA is uncommon. All but one with complex ALCAPA was not diagnosed preoperatively and postoperative morbidity and mortality were significantly greater in these complex patients compared to patients with isolated ALCAPA.

Scimitar Syndrome with Acquired Cardiac Disease: A Once-in-a-blue-moon Occurrence

Abstract Scimitar syndrome (SS) is a rare congenital anomaly characterized by various abnormalities observed in both children and adults, primarily involving partial anomalous pulmonary venous drainage from the right lung to the inferior vena cava and right lung hypoplasia. It is also known by alternative names such as congenital venolobar syndrome, Halasz syndrome, mirror-image lung syndrome, hypogenetic lung syndrome, and vena cava bronchovascular syndrome. The clinical presentation of this syndrome varies widely, ranging from asymptomatic cases to severe forms. Surgical intervention is typically required for severe cases, and the diagnosis relies predominantly on imaging studies. We present two instances of SS: one involving a patient with underlying rheumatic heart disease scheduled for valve replacement surgery and the other as an incidental finding in an asymptomatic individual, managed through medical means.

A rare variant of scimitar syndrome characterised by right pulmonary vein drainage to portal vein with eventeration of diaphragm.

While infradiaphragmatic total anomalous pulmonary venous drainage to portal vein is well described, hemianomalous drainage of right pulmonary veins to portal vein in Scimitar syndrome has not yet been reported.

Scimitar Syndrome Diagnosed in Adulthood

Scimitar Syndrome Diagnosed in Adulthood

Repair of Scimitar Syndrome with Intact Atrial Septum in a Two-Year-Old Child Via Vertical Right Axillary Thoracotomy

Repair of Scimitar Syndrome with Intact Atrial Septum in a Two-Year-Old Child Via Vertical Right Axillary Thoracotomy

Kiosk 2Q-TA-04 - Ferumoxytol Enhanced 4D Flow Hemodynamic Evaluation of Complex Scimitar Syndrome with Anomalous Pulmonary Veins with Stenosis

Kiosk 2Q-TA-04 - Ferumoxytol Enhanced 4D Flow Hemodynamic Evaluation of Complex Scimitar Syndrome with Anomalous Pulmonary Veins with Stenosis

Extracardiac Pericardial Conduit Repair: A Novel Approach to Complex Scimitar Syndrome with Dextrocardia and intact Inter-Atrial Septum

Scimitar syndrome (SS) has been repaired using different surgical procedures like intracardiac baffle and redirection (directly or by using synthetic grafts) of the scimitar vein to the right or left atrium. However, several accompanying anatomic abnormalities make these interventions difficult. The most common variations complicating reimplantation of the scimitar vein (SV) include dextrocardia, hypoplasia of the right pulmonary artery and lung sequestration. Here, we present a novel method for extracardiac repair of SS with dextrocardia and intact atrial septum in which the right superior and inferior pulmonary veins formed a common venous chamber at the diaphragmatic surface and opening at the right atrium (RA) and inferior vena cava (IVC) junction. Although the use of pericardial tube grafts is seen in literature before, its use for rerouting a complex venous complex into left atrium is first reported in this case.

Novel operative technique for Scimitar syndrome: Posterior flap technique.

Various surgical techniques have been reported for Scimitar syndrome, because of the heterogenous anatomy of the disease. We developed a novel surgical method to repair Scimitar syndrome, in which, a new pulmonary venous route is constructed behind the inferior vena cava using autologous flaps of the inferior vena cava and the interatrial septum. An adult case of Scimitar syndrome was repaired by this method with good results.

Left sided Scimitar syndrome.

The images depict a rare case of Scimitar syndrome involving the left lower pulmonary vein.

Long-Term Outcomes of Unrepaired Isolated Partial Anomalous Pulmonary Venous Connection With an Intact Atrial Septum

The natural history of an unrepaired isolated partial anomalous pulmonary venous connection(s) (PAPVC) and the absence of other congenital anomalies remains unclear. This study aimed to expand the understanding of the clinical outcomes in this population. Isolated PAPVC with an intact atrial septum is a relatively uncommon condition. There is the perception that patients with isolated PAPVC are usually asymptomatic, that the lesion generally has a limited hemodynamic impact, and that surgical repair is rarely justified. For this retrospective study, we reviewed our institutional database to identify patients with either 1 or 2 anomalous pulmonary veins that drain a portion of but not the complete ipsilateral lung. Patients with previous surgical cardiac repair, coexistence of other congenital cardiac anomalies that would result in either pretricuspid or post-tricuspid loading of the right ventricle (RV), or scimitar syndrome were excluded. We reviewed their clinical course over the follow-up period. We identified 53 patients; 41 with a single and 12 with 2 anomalous PAPVC. A total of 30 patients (57%) were men, with a mean age at the latest clinic visit of 47 ± 19years (18 to 84 years). Turner syndrome (6 of 53, 11.3%), bicuspid aortic valve (6 of 53, 11.3%), and coarctation of the aorta (5 of 53, 9.4%) were commonly associated anomalies. A single anomalous left upper lobe vein was the most commonly identified variation. More than half of the patients were asymptomatic. Cardiopulmonary exercise test demonstrated a maximal oxygen consumption of 73 ± 20% expected (36 to 120). Transthoracic echocardiography demonstrated a mean RV basal diameter of 4.4 ± 0.8cm, RV systolic pressure of 38 ± 13 (16 to 84) mm Hg. A total of 8 patients (14.8%) had ≥moderate tricuspid regurgitation. Cardiac magnetic resonance in 42 patients demonstrated a mean RV end-diastolic volume index of 122 ±3 0ml/m2 (66 to 188ml/m2), of which in 8 (14.8%), it was >150ml/m2. Magnetic resonance imaging-based Qp:Qs was 1.6 ± 0.3. A total of 5 patients (9.3%) had established pulmonary hypertension (mean pulmonary artery pressure ≥25mm Hg). In conclusion, isolated single or dual anomalous pulmonary venous connection is not necessarily a benign congenital anomaly because a proportion of patients develop pulmonary hypertension and/or RV dilation. Regular follow-up and on-going patient surveillance with cardiac imaging is advised.

O-1 | 3D Printing of Patient-Specific Intravascular Stents for Congenital Heart Disease – Proof of Concept

Patients with congenital heart disease (CHD) may require stent placement for various vascular stenoses. Multiple stents are used “off-label” for patients with CHD. There is a need for accessible, modifiable and customizable stents for patients with CHD. This study aims to provide proof of concept for patient-specific 3D printed metal stents for CHD. Five hearts of patients with CHD and vascular stenoses were identified from our anonymized model database and 3D printed. Custom stents were designed using SolidWorks and Meshmixer and 3D printed with steel using the Ultimaker S5 Pro printer Metal Expansion Kit. The heart models were digitally reconstructed as if the stenosis was treated, 3D printed and the stents implanted by hand. Five stents were printed and implanted in the models. Diagnoses included: Scimitar syndrome with pulmonary vein baffle stenosis; proximal right pulmonary artery stenosis; left pulmonary artery arising from the aortic arch; left pulmonary artery stenosis; hypoplastic left heart syndrome after Norwood with recoarctation. Stent weight range 1-15g, print time 2-36 minutes, cost $0.13–1.94; these times do not account for the necessary post-processing, which is currently 10 business days. Examples of pre- and post-treated models are shown in the Figure. Utilizing the newest 3D metal printing technology, we were able to generate patient-specific stents and implant them in 3D printed models of CHD. The cost and print time are quite low, however the post-processing time is still quite long. As technology advances further, it may become possible to 3D print patient-specific stents in the cath lab.

A rare constellation of horseshoe lung with lung malformation and hypoplastic left heart syndrome: a case report

Introduction. The aim of the paper is demonstrating the possibilities of CT angiography in newborns with suspected combinations of a congenital heart defect and pulmonary malformations.Materials and methods. The article presents a clinical case of a rare constellation of horseshoe lung with hypoplastic left heart syndrome, right lung hypoplasia and intralobar pulmonary sequestration of the right lung.Results. Contrast-enhanced computed tomography is mandatory in visualization of rare complex congenital heart and bronchovascular anomaly.Discussion. Horseshoe lung is a rare congenital anomaly of childhood in which the caudal and basal segments of the lungs are joined together anterior to the aorta and behind the left ventricle. This anomaly was described for the first time by Spenser in 1962. Horseshoe lung is often associated with unilateral lung hypoplasia, most commonly involving the right lung, and can occur in conjunction with scimitar syndrome, which includes hypoplasia of the right lung, abnormal right pulmonary venous return, and abnormal arterial supply to the right lung.Conclusion. Presented case report demonstrates current postnatal examination possibilities (CT, angiography) in the diagnostics of a rare congenital heart and bronchovascular anomaly — hyperplastic left heart, intralobar pulmonary sequestration of the right lung, anomalous venous return, anomalous hepatic venous drainage. The incidence of this disorder is approximately 1–3 per 100 000 births.