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.

Unveiling a Unique Case of Scimitar Syndrome: Clinical Significance and Multidisciplinary Management Challenges in Pakistan.

Scimitar syndrome, a rare congenital cardiac anomaly, involves abnormal pulmonary vein drainage into systemic veins, leading to distinct imaging features resembling a curved-blade sword. This case report presents a unique instance of scimitar syndrome in Pakistan, emphasizing its clinical importance and the challenges of management. A 26-year-old female with a history of recurrent pulmonary infections and respiratory symptoms since childhood was diagnosed with scimitar syndrome. Radiological assessments, including chest X-rays, computed tomography pulmonary angiograms (CTPA), and transthoracic echocardiography, confirmed the presence of a curved vessel originating from the right hemidiaphragm and connecting with the inferior vena cava (IVC). The patient and her medical team opted for conservative management, involving multidisciplinary care, tailored treatment for infections, and regular monitoring. The rarity of Scimitar syndrome necessitates careful diagnosis and management decisions. While surgical intervention is often recommended, this case demonstrates the complexities of choosing conservative management based on patient preferences and the evolving clinical course. A literature review reveals varied outcomes of surgical and conservative approaches, emphasizing the need for personalized strategies. Radiological techniques, such as CTPA and MRI, play pivotal roles in diagnosis and monitoring. This case report underscores the clinical significance of scimitar syndrome, particularly in regions with limited reported cases, like Pakistan. The multidisciplinary management approach, the decision-making process regarding conservative treatment, and the unique radiological findings contribute to the medical community's understanding of this rare condition.

Bronchial Asthma With Scimitar Syndrome: A Case Report.

Scimitar syndrome is a rare congenital cardiopulmonary anomaly; it is also called venolobar syndrome, hypogenic lung syndrome, and Halasz syndrome. The syndrome is characterized by cardiac dextroposition, right lung and pulmonary artery hypoplasia as well as complete or partial anomalous pulmonary venous drainage of the right lung. We report a case of a 22-month-old full-term male child with a severe form of scimitar syndrome diagnosed at birth. The X-ray demonstrated dextrocardia and right lung hypoplasia, while the echocardiography clearly illustrated the scimitar vein. The patient had multiple ER visits and hospitalizations due to asthma exacerbation that was aggravated by recurrent respiratory tract infections; he responded well to asthma medications during his admissions yet compliance to his prophylactic asthma medications was poor at home.

A rare case of scimitar syndrome with pulmonary arterial hypertension in an adult female.

Scimitar syndrome is a rare congenital anomaly characterized by partial or total anomalous pulmonary venous drainage of the right lung to the inferior vena cava. We report a case of a 67-year-old female who presented with cough and dyspnea and was diagnosed with scimitar syndrome and pulmonary arterial hypertension based on comprehensive imaging and hemodynamic evaluation. This case highlights the importance of considering scimitar syndrome as a cause of pulmonary hypertension even in adult patients.

STIC-HD live flow technology in the antenatal diagnosis of scimitar syndrome: A case report.

Scimitar syndrome (SS) is a rare entity with an incidence of approximately 1-3 in 200 000 people. It is typically characterized by complete or partial anomalous pulmonary venous drainage from the right lung into the systemic venous circulation, most commonly the inferior vena cava (IVC). For the first time, we report the diagnosis of SS in a fetus in utero using four-dimensional (4D) spatiotemporal image correlation combined with high-definition live flow rendering mode (STIC-HD live flow).

Scimitar syndrome, bronchiectasis, haemoptysis and a pneumonectomy.

Scimitar syndrome is a rare condition characterized by partial or complete anomalous pulmonary venous drainage of the lung to the inferior vena cava, right lung hypoplasia and dextroposition of the heart. Haemoptysis is uncommon in adults, although the clinical spectrum is wide. We report a case of a 38-year-old male with scimitar syndrome who had low grade haemoptysis persisting over several years secondary to bronchiectatic changes in his hypoplastic right lung. Conservative measures to manage haemoptysis were unsuccessful and the patient proceeded to bronchial artery embolization. The post-procedure course was complicated by lung infarction and the patient ultimately required pneumonectomy. Deformities of the blood vessels and lungs are complex in scimitar syndrome. Bronchial artery embolization should be approached cautiously to protect pulmonary perfusion.

Scimitar syndrome with large atrial septal defect and a rare partial anomalous venous drainage in an adult: a case report.

Background: Scimitar syndrome is a very rare congenital cardio-pulmonary disease with anomalous right pulmonary vein draining either partially or completely into the inferior vena cava. It is called Scimitar syndrome due to the classical appearance in the chest X-ray, which resembles the curved blade of Turkish sword 'Scimitar'. It commonly associates with atrial septal defect (ASD), hypoplasia of the right lung, dextroposition of the heart, and pulmonary hypertension (PHT). Case summary: A 67-year-old lady, diagnosed with atrial fibrillation and moderate PHT 3 years ago, presented with worsening bilateral ankle oedema and New York Heart Association class III shortness of breath. Chest X-ray showed the Scimitar appearance. The trans-thoracic and trans-oesophageal echocardiograms revealed a 46 mm ASD and a partial anomalous pulmonary venous drainage (PAPVD) of the right upper pulmonary vein (RUPV) into the right atrium at the junction of the atria. Three-dimensional reconstruction of the computed tomographic pulmonary angiogram confirmed Scimitar syndrome of the right lower pulmonary vein (RLPV). We managed her conservatively on her wish. After 13 months, she succumbed due to a massive stroke. Discussion: We describe a very rare case of an elderly lady who has Scimitar syndrome with an ASD and evidence of PAPVD of the RUPV; thus, we intend to provide an antecedent for further cases, for prompt and accurate diagnosis and timely interventions in order to prevent life-threatening complications.

Case report: A unique quadruple coexisting anomaly-scimitar syndrome, atrial septal defect, vascular ring, and pulmonary sequestration.

The article describes a successful clinical outcome in the case of a 5-month old female with a diagnosis of incomplete vascular ring of aberrant right subclavian artery and ostium secundum atrial septal defect associated with partial anomalous pulmonary venous return of scimitar syndrome type, coexisting with right pulmonary sequestration. During hospitalization, surgical correction of the heart defect and resection of the lung sequestration were performed. To the best of our knowledge, described constellation of defects is a unique phenomenon, posing a challenge for complex treatment and disease management.

Successful Surgical Management of Incidentally Diagnosed Scimitar Syndrome With Anomalous Connection of the Left Hepatic Vein to Coronary Sinus and Persistent Left Superior Vena Cava.

Scimitar syndrome is a rare congenital heart pathology that presents at birth, and it is a type of partial anomalous pulmonary venous return (PAPVR). In one in three people with scimitar syndrome, the right pulmonary vein is shaped like a scimitar (a Turkish sword) and can be easily visualized on radiographic imaging. This syndrome is not a simple and benign disease, and associated cardiac anomalies play a role in long-term outcomes, and the presence of pulmonary hypertension contributes to high mortality. The present case is the rarest of rare entities, scimitar syndrome, anomalous vascular connections between the left hepatic vein and coronary sinus, and persistent left superior vena cava in a single patient with no such case report published before.

Surgical repair of mitral valve regurgitation with anomalous unilateral single pulmonary vein.

We report a case of surgically repaired symptomatic mitral valve regurgitation (MR) in a 61-year-old woman with anomalous unilateral single pulmonary vein. A two-staged surgery was scheduled; first a catheter embolization of anomalous vessel to avoid recirculation of the blood into the left atrium during cardiopulmonary bypass, and second a mitral valve repair via right lateral thoracotomy. Learning objective: Scimitar sign is a horn-like shape on plain chest radiograph. One of the possible diagnoses is partial anomalous pulmonary venous return (APVR), which often requires surgical interventions due to comorbidities of congenital heart disease and recurrent pneumonia [1-3]. Another is anomalous unilateral single pulmonary vein (AUSPV), which is generally asymptomatic, and therefore, requires no medical interventions. This case addresses the advantage of multidetector computed tomography (CT) and the safety of two-staged strategy.

Rare case of horseshoe lung associated with scimitar syndrome in Palestine: a case report.

The caudal and basal parts of the lungs are fused together in a rare congenital bronchopulmonary anomaly known as horseshoe lung. The majority of horseshoe lung cases are associated with scimitar syndrome. Most patients present with nonspecific symptoms. Multidetector pneumoangiography can be used to diagnose horseshoe lung, which shows that the isthmus of the pulmonary parenchyma traverses the midline, connecting the two lungs together. Treatment and prognosis are usually determined depending on the presence of other concomitant anomalies and the degree of symptom severity. Case Presentation: A 3-month-old-male patient presented with respiratory symptoms and a history of chest infection. Chest imaging revealed anomalous venous drainage from the right lower lobe of the lung, right lung hypoplasia with mediastinal shift, and a parenchymal isthmus extending between the two lungs. The patient was diagnosed with horseshoe lungs associated with scimitar syndrome. He was also found to have extralobar sequestration to the right lower lobe of the lung. The patient underwent surgical management in the form of tunneling of the anomalous vein into the left atrium using pericardium autograft ligation of the sequestration artery. Clinical Discussion: Because of its common association with other congenital malformations such as scimitar syndrome and cardiovascular defects, clinicians should be meticulous in the investigation and workup process of patients with horseshoe lung in order not to miss any of these associated abnormalities. Conclusion: Although it is very rare, horseshoe lung should be considered in the differential diagnosis of respiratory distress symptoms, especially in children younger than 1 year.

Rarer Components of a Rare Disease: Accessory Hemidiaphragm and Horseshoe Lung with Scimitar Syndrome; Two Case Reports.

INTRODUCTION: Scimitar syndrome is a rare developmental anomaly with an incidence of 2/100.000 births. Major components of this disease are partial anomalous pulmonary venous drainage, pulmonary hypoplasia, systemic arterialization of the right basal lung, and dextroposition of the heart. Horseshoe lung and accessory hemidiaphragm are two rarer components of this disease. CASE PRESENTATION: In this paper, horseshoe lung and accessory diaphragm associated with Scimitar syndrome have been reported in two cases. CONCLUSION: In conclusion, being aware of rare manifestations of rare diseases is important to fully describe the pathologic spectrum of the disease. This will assist in better management and decision-making process.

Two sisters with cardiac-urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism?

BACKGROUND: Cardiac-urogenital syndrome [MIM # 618280] is a newly described very rare syndrome associated with pathogenic variants in the myelin regulatory factor (MYRF) gene that leads to loss of protein function. MYRF is a transcription factor previously associated only with the control of myelin-related gene expression. However, it is also highly expressed in other tissues and associated with various organ anomalies. The clinical picture is primarily dominated by complex congenital cardiac developmental defects, pulmonary hypoplasia, congenital diaphragmatic hernia, and urogenital malformations. CASE PRESENTATION: We present case reports of two siblings of unrelated parents in whom whole-exome sequencing was indicated due to familial occurrence of extensive developmental defects. A new, previously undescribed splicing pathogenic variant c.1388+2T>G in the MYRF gene has been identified in both patients. Both parents are unaffected, tested negative, and have another healthy daughter. The identical de novo event in siblings suggests gonadal mosaicism, which can mimic recessive inheritance. CONCLUSIONS: To our knowledge, this is the first published case of familial cardiac-urogenital syndrome indicating gonadal mosaicism.

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 institution in 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 74 months. 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 1 year. 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 (20 mmHg) of deceased patients was significantly higher compared to pressures in surviving patients (11 mmHg; 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.

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.

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.

Surgical repair of the adult form of scimitar syndrome.

Scimitar syndrome has various clinical presentations and anatomic features, and some cases are diagnosed in adulthood. Reconstruction using autologous tissue to reroute the right pulmonary venous blood flow to the left atrium is ideal. However, if the scimitar vein drains to the caudal segment of the inferior vena cava, reconstruction using prosthetic material may be necessary due to the distance between the left atrium and the scimitar vein. We describe the case of a 16-year-old boy with scimitar syndrome. We anastomosed the scimitar vein to the right atrium using an artificial graft and created an atrial septal defect for rerouting the right pulmonary venous blood to the left atrium. It has been 9 years since this procedure, and the patient has not experienced graft stenosis or thromboembolic events.

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

Background: Scimitar 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. Methods: We 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. Results: Thirty-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). Conclusions: Infantile 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.