UNASSIGNED: To investigate the clinical value of echocardiographic detection in the prenatal early diagnosis of Scimitar syndrome (SS) in fetuses, and to develop better and more accurate management strategies for improved prognosis.
UNASSIGNED: A retrospective analysis was conducted on medical records and fetal echocardiographic findings of all cases diagnosed as SS between April 1, 2016 and June 1, 2021. To summarize its echocardiographic features and distinguishing points, comprehensive clinical data and prognostic information were gathered.
UNASSIGNED: Six patients were diagnosed with SS during the study period. Major associated abnormalities included atrial septal defect (n = 3), right inferior pulmonary vein anomalies (n = 2), ventricular septal defect (n = 1), and right aortic arch (n = 1). Post-surgery, all patients exhibited unobstructed pulmonary vein flow and absence of pulmonary hypertension. The average follow-up duration was 24 months, during which five infants underwent surgical intervention for SS.
UNASSIGNED: Comprehensive prenatal screening, particularly combined coronal and sagittal views of the fetal thorax, enables accurate diagnosis of right SS. This approach not only aids in timely intervention but also provides crucial prognostic insights for the child\'s future well-being.

Scimitar syndrome is a congenital disorder characterized by partial anomalous pulmonary venous return to the inferior vena cava (IVC). Clinical manifestation in adulthood is infrequent. The management approach has not been universally accepted and may be challenging. Individually tailored and multidisciplinary team-based decisions are often necessary. We present the case of a symptomatic patient diagnosed with complex congenital heart disease, including scimitar syndrome and atrial septal defect at the age of 50 years. Surgical repair, involving scimitar vein implantation in the left atrium using a pericardial patch, was performed. Despite surgical correction, dyspnea persisted, and hemoptysis developed. A diagnostic workup revealed a critical stenosis of the re-inserted vein. This was successfully treated by percutaneous intervention with stent implantation. The patient has remained asymptomatic since the procedure. Scimitar syndrome can be first diagnosed in adulthood, and clinical manifestations can vary. Diagnostic workup necessitates a CT angiogram, magnetic resonance scan, and catheterization in selected cases. Stenoses of re-implanted pulmonary veins (PVs) can develop years after surgical correction, and hemoptysis may serve as a warning symptom prompting further PV imaging. Percutaneous vascular intervention using a stent is warranted in symptomatic cases and can lead to long-term success.

The Scimitar syndrome or pulmonary venolobar syndrome is a rare, complex and variable congenital anomaly of cardiopulmonary development characterised by an abnormal right-sided pulmonary venous drainage in the inferior vena cava, malformation of the right lung, abnormal arterial supply and sometimes cardiac malformations. These serious anomalies notwithstanding, their presentation is varied, ranging from asymptomatic to severe symptoms, particularly in the neonatal and early infantile period. Some symptomatic cases are misdiagnosed as recurrent lower respiratory tract infections or as heart failure, missing the underlying congenital anomaly. Considering associated serious complications such as pulmonary hypertension and a high mortality rate, accurate and timely diagnosis is mandatory. This requires a high index of suspicion, not only by clinicians but also by radiologists who encounter suggestive chest radiographs in asymptomatic children. Still, the classic radiological finding for which the condition is named is seen in only about 50% of all cases and only 10% in affected infants. We highlight this case to heighten clinicians\' and radiologists\' suspicions about Scimitar syndrome.
UNASSIGNED: None declared.

The venous pole of the heart where the pulmonary veins will develop encompasses the sinus venosus and the atrium. In the fourth week of development, the sinus venosus consists of a left and a right part receiving blood from the common cardinal vein, the omphalomesenteric and umbilical veins. Asymmetrical expansion of the common atrium corresponds with a rightward shift of the connection of the sinus to the atrium. The right-sided part of the sinus venosus including its tributing cardinal veins enlarges to form the right superior and inferior vena cava that will incorporate into the right atrium. The left-sided part in human development largely obliterates and remodels to form the coronary sinus in adults. In approximately the same time window (4th-fifth weeks), a splanchnic vascular plexus surrounds the developing lung buds (putative lungs) with a twofold connection. Of note, during early developmental stages, the primary route of drainage from the pulmonary plexus is toward the systemic veins and not to the heart. After lumenization of the so-called mid-pharyngeal endothelial strand (MPES), the first anlage of the pulmonary vein, the common pulmonary vein can be observed in the dorsal mesocardium, and the primary route of drainage will gradually change toward a cardiac drainage. The splanchnic pulmonary venous connections with the systemic cardinal veins will gradually disappear during normal development. In case of absence or atresia of the MPES, the pulmonary-to-systemic connections will persist, clinically resulting in total anomalous pulmonary venous return (TAPVR). This chapter describes the developmental processes and molecular pathways underlying anomalous pulmonary venous connections.

Partial anomalous pulmonary venous connections (PAVC) have been found after abnormal gene expressions involving several syndromes. Total anomalous pulmonary venous connection (TAPVC) is found in conjunction with heterotaxia syndrome as well as several other syndromes. It has been reported with an autosomal dominance with variable expression and incomplete penetrance. The occurrence is also related to environmental factors which may superimpose on a familial susceptibility for TAPVC. Many pathways are involved in the normal development of the pulmonary venous connections and as a consequence disturbance of many genetic and epigenetic pathways lead to partial or total pulmonary venous misconnections. In this chapter, an overview of current knowledge regarding human genetics of anomalous venous connections is provided.

Total anomalous pulmonary venous return (TAPVR) is rare (accounting for about 1% of all CHD) and can occur as a single lesion or in combination with other types of CHD (such as heterotaxy or HLHS). TAPVR is defined as an abnormal connection where all pulmonary veins do not drain into the left atrium but into the right atrium either directly or through a vein that is connected to the right atrium. TAPVR can be divided into four anatomic groups (Fig. 32.1): (1) supracardiac (about 55%), (2) cardiac (about 30%), (3) infracardiac (about 13%), and (4) mixed (very rare). In addition, it can be divided into two physiological types: nonobstructed and obstructed. Embryologically, all pulmonary veins usually connect to a pulmonary venous confluence that connects to the left atrium. If this connection does not occur, the pulmonary venous confluence connects to a systemic vein instead.

Partial anomalous pulmonary venous connection (PAPVC) is a congenital heart defect in which one or more pulmonary veins drain abnormally into the systemic venous circulation, leading to the development of pulmonary arterial hypertension. It can be supracardiac type, draining into the superior vena cava or right atrium (also called cardiac type) and infracardiac type with drainage into the inferior vena cava (IVC). We present two cases-supracardiac and infracardiac types of PAPVC in this case report.

Total anomalous pulmonary venous connection (TAPVC) is a rare congenital defect where pulmonary venous plexus fails to connect with the left atrium (LA). Surgical repair is the primary treatment for TAPVC, but factors influencing outcomes are not fully understood. This study investigates the early outcomes of surgical repair for TAPVC and associated factors. A retrospective cohort analysis was conducted on TAPVC patients who underwent surgical repair between 2012 and 2022. Data were collected from medical records and supplemented with phone call validation. Demographic characteristics, surgical data, diagnostic tests, and outcomes were analyzed. Statistical analysis included chi-square, t-tests, and multivariate logistic regression using SPSS. A total of 88 patients underwent surgical repair for TAPVC, resulting in a mortality rate of 21.6%. Weight and bypass time were significantly associated with patient survival. Female patients had a higher likelihood of death. The anatomic type did not significantly influence mortality. Patients with pulmonary venous obstruction (PVO) experienced a higher mortality rate. Notably, ligation of the vertical vein in supracardiac and infracardiac types was associated with lower mortality. In conclusion, our study identifies several key factors contributing to higher mortality rates following TAPVC surgery, including low weight, female gender, prolonged bypass time, and preoperative vein obstruction. Highlighting the significance of surgical technique, particularly the sutureless approach, we advocate for its meticulous consideration to achieve improved outcomes. Furthermore, our findings indicate a potential decrease in mortality associated with vertical vein ligation, which may mitigate the risk of post-repair heart failure. We suggest further rigorous studies to gain comprehensive insights into TAPVC surgical interventions.

BACKGROUND: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.

暂无摘要。