Contribution of fetal magnetic resonance imaging in fetuses with congenital heart disease.

BACKGROUND: Increasing evidence supports an association among congenital heart disease (CHD), structural brain lesions on neuroimaging, and increased risk of neurodevelopmental delay and other structural anomalies. Fetal MRI has been found to be effective in demonstrating fetal structural and developmental abnormalities. OBJECTIVE: To determine the contribution of fetal MRI to identifying cardiovascular and non-cardiovascular anomalies in fetuses with CHD compared to prenatal US and fetal echocardiography. MATERIALS AND METHODS: We performed a retrospective study of fetuses with CHD identified by fetal echocardiography. Exams were performed on 1.5-tesla (T) or 3-T magnets using a balanced turbo field echo sequence triggered by an external electrocardiogram simulator with a fixed heart rate of 140 beats per minute (bpm). Fetal echocardiography was performed by pediatric cardiologists and detailed obstetrical US by maternal-fetal medicine specialists prior to referral to MRI. We compared the sensitivity of fetal MRI and fetal echocardiography for the diagnosis of cardiovascular anomalies, as well as the sensitivity of fetal MRI and referral US for the diagnosis of non-cardiac anomalies. We performed statistical analysis using the McNemar test. RESULTS: We identified 121 anomalies in 31 fetuses. Of these, 73 (60.3%) were cardiovascular and 48 (39.7%) involved other organ systems. Fetal echocardiography was more sensitive for diagnosing cardiovascular anomalies compared to fetal MRI, but the difference was not statistically significant (85.9%, 95% confidence interval [CI] 77.8-94.0% vs. 77.5%, 95% CI 67.7-87.2%, respectively; McNemar test 2.29; P=0.13). The sensitivity of fetal MRI was higher for diagnosing extracardiac anomalies when compared to referral US (84.1%, 95% CI 73.3-94.9% vs. 31.8%, 95% CI 18.1-45.6%, respectively; McNemar test 12.9; P<0.001). The additional information provided by fetal MRI changed prognosis, counseling or management for 10/31 fetuses (32.2%), all in the group of 19 fetuses with anomalies in other organs and systems besides CHD. CONCLUSION: Fetal MRI performed in a population of fetuses with CHD provided additional information that altered prognosis, counseling or management in approximately one-third of the fetuses, mainly by identifying previously unknown anomalies in other organs and systems.

A rare case of pulmonary lymphangiectasia associated with CHD.

CHD may, at times, occur in the framework of other rare pathologies. These, having similar clinical manifestations, present a diagnostic dilemma for the clinician.The authors present the case of an infant with non-syndromic complete atrioventricular septal defect, whose post-operative period was surprisingly complicated by progressive pulmonary hypertension. Despite intensive care, the infant ultimately died. The diagnosis of unilateral primary pulmonary lymphangiectasia was only possible post mortem.

Risk stratification of patients with hypoplastic left heart syndrome and intact atrial septum using fetal MRI and echocardiography.

Despite prenatal diagnosis, prenatal intervention, and immediate postnatal intervention, patients with hypoplastic left heart syndrome and intact or highly restrictive atrial septum have the highest risk for mortality. Charts for all infants diagnosed with hypoplastic left heart syndrome from 2009 to 2017 were retrospectively reviewed and compared, including pulmonary vein Doppler patterns on fetal echocardiogram and evidence of pulmonary lymphangiectasia on fetal MRI. Of the 81 newborns with hypoplastic left heart syndrome, we defined two groups. Group 1 patients had an adequate atrial septal communication (n = 69), while Group 2 met criteria for intact/restrictive septum (n = 12). No patient in Group 1 had a type C pulmonary vein Doppler pattern, while no patient in Group 2 had a type A pulmonary vein Doppler pattern. The two patients with pulmonary lymphangiectasia had type C pulmonary vein Doppler pattern and an intact atrial septum and did not survive. Survival to discharge for Group 1 was 83% compared to 58% for Group 2 (p = 0.116). Survival to stage 2 palliation was 71% for Group 1 compared to 50% for Group 2 (p = 0.186). Only 4 of the initial 12 patients from Group 2 are alive, which is an overall survival of 33%. Our experience supports previous evidence that fetal echocardiography can identify those patients with the greatest likelihood for postnatal intervention as well as those at highest risk for mortality. Fetal MRI is a novel imaging modality that may help providers separate patients at highest risk for mortality, regardless of pulmonary vein Doppler pattern.

Diagnosis of secondary pulmonary lymphangiectasia in congenital heart disease: a novel role for chest ultrasound and prognostic implications.

BACKGROUND: Secondary pulmonary lymphangiectasia is a complication of congenital heart disease that results from chronic pulmonary venous obstruction. OBJECTIVES: We aimed to evaluate the performance of chest ultrasound (US) in diagnosing secondary pulmonary lymphangiectasia and to review the clinical course of children with secondary pulmonary lymphangiectasia. MATERIALS AND METHODS: Chest US was performed on 26 children with hypoplastic left heart syndrome, total anomalous pulmonary venous connection or cor triatriatum in a prospective observational study. Thirteen children had pulmonary venous obstruction (62% male; median age: 17 days old, range: 1-430 days old) and 13 children did not have obstruction (62% male; median age: 72 days old, range: 4-333 days old). US features of secondary pulmonary lymphangiectasia were documented and diagnostic performance was determined. Clinical course of patients with secondary pulmonary lymphangiectasia was reviewed. RESULTS: Eleven of 13 (84.6%) patients in the obstructed group had a clinical and/or biopsy diagnosis of secondary pulmonary lymphangiectasia. Statistically significant chest US criteria for diagnosis were presence of irregular lung surface (likelihood ratio [LR] 6.8, 95% confidence interval [CI] 1.9-25.1), subpleural cystic appearing structures (LR 3.6, 95% CI 1.2-10.7), and combination of subpleural cystic appearing structures and surface irregularity together (LR 10.9, 95% CI 1.6-75.0). Seven of 11 (63.6%) patients with secondary pulmonary lymphangiectasia died during follow-up, the majority due to cardiopulmonary failure or complications. CONCLUSION: Chest US is an accurate and reproducible bedside method for diagnosing secondary pulmonary lymphangiectasia in patients with pulmonary venous obstruction. These patients may have worse prognoses.

Congenital pulmonary lymphangiectasia.

Congenital pulmonary lymphangiectasia (CPL) is a rare but fatal disease, usually having an onset from the first few hours to days after birth. Inconsistent nomenclatures were used for CPL in the past decades. Patients often present with intractable respiratory failure, hydrops fetalis and even sudden death. The etiologies of CPL remain unclear. Previous hypotheses suggested that CPL might be caused by conditions preventing normal regression of the lymphatics after the 18th-20th week of gestation. Up-to-date biological studies on lymphatic development, lymphatic valve formation and occurrence of hydrops fetalis revealed possible causative relations with mutations of genes of the vascular endothelial growth factor receptor (VEGFR), RAS/MAPK, PI3K/AKT and NF-κB signaling pathways. Lung biopsy with subsequent histological and immunohistochemical studies is a gold standard of CPL diagnosis. Apart from symptomatic and supportive treatments, novel regimens including sirolimus, a mammalian target of rapamycin (mTOR) inhibitor, one of the inhibitors of the pertinent signaling pathways and ethiodized oil lymphatic embolization under ultrasound-guided intranodal lymphangiography have shown encouraging short-term therapeutic effects for lymphatic anomalies. Surgical operations (lobectomy or pneumonectomy) can be the treatment of choice for patients with CPL confined to one lobe or one lung. Patients with CPL usually have a poor prognosis and often die during the neonatal period. Their prognoses are expected to improve with the development of modern therapeutic agents.

Congenital pulmonary lymphangiectasia and early mortality after stage 1 reconstruction procedures.

OBJECTIVES: Pulmonary lymphangiectasia associated with hypoplastic left heart syndrome with an intact or restrictive atrial septum may result from increased left atrial pressure, and is associated with worse outcomes following staged reconstruction due to lung dysfunction and significant hypoxaemia. Our objective was to characterise the incidence of pulmonary lymphangiectasia in cases of early mortality following stage 1 reconstructions. METHODS: An institutional cardiac surgical database was retrospectively searched for patients who died within 30 days following a stage 1 reconstruction between 1 January, 1984 and 31 December, 2013. During that period, 1669 stage 1 procedures were performed. Autopsy lung specimens were reviewed by a paediatric pathologist. Patients who died of suspected technical issues were excluded. RESULTS: A total of 54 patients were included, and of these seven cases (8.5%) of pulmonary lymphangiectasia were identified. The mean estimated gestational age was 38.2±2.4 weeks, and the mean birth weight was 3.0±0.6 kg. The median interval between surgery and death was 1 day (with a range from 0 to 18 days). The atrial septum was intact in one patient (14.3%), restrictive in three patients (42.9%), and unrestrictive in three patients (42.9%). CONCLUSIONS: Pulmonary lymphangiectasia may develop in hypoplastic left heart syndrome with or without a restrictive atrial septum. As standard prenatal diagnostic evaluations and treatment methods for pulmonary lymphangiectasia are limited, this may be an important contributor to early and late mortality following stage 1 reconstruction for hypoplastic left heart syndrome.

Congenital pulmonary lymphangiectasia and chylothorax - a case series.

Congenital pulmonary lymphangiectasia (CPL) and chylothorax (CC) are rare lymphatic developmental disorders. We report six clinical cases of CPL and CC that were admitted to our level III neonatal intensive care unit over the last 20 years. One case of unilateral CC was successfully treated with pleuro-amniotic shunt; three cases of bilateral CC were associated to lung hypoplasia, hydrops fetalis, and generalized lymphangiectasias; one case of CPL was associated with obstructive congenital heart defect; one case of unilateral CC was successfully treated with thoracocentesis and medium-chain triglyceride diet. Mortality was high (66.6%).

Young patient with generalized lymphangiomatosis: Differentiating the differential.

We present the case of a 19-year-old man who was extensively evaluated in multiple centres for long-standing cough, dyspnea, and hemoptysis without a definitive diagnosis. His chest radiograph at presentation showed mediastinal widening, bilateral pleural effusions, and Kerley B lines. Computed tomography of the thorax showed a confluent, fluid-density mediastinal lesion enveloping the mediastinal viscera without any mass effect. There were bilateral pleural effusions, prominent peribronchovascular interstitial thickening, interlobular septal thickening and lobular areas of ground glass density with relative sparing of apices. There were a few dilated retroperitoneal lymphatics and well-defined lytic lesions in the bones. In this case report, we aim to systematically discuss the relevant differentials and arrive at a diagnosis. We also briefly discuss the treatment options and prognosis along with our patient's course in the hospital and final outcome.

Nonmalignant Adult Thoracic Lymphatic Disorders.

The thoracic lymphatic disorders are a heterogeneous group of uncommon conditions that are associated with thoracic masses, interstitial pulmonary infiltrates, and chylous complications. Accurate diagnosis of the thoracic lymphatic disorders has important implications for the newest approaches to management, including embolization and treatment with antilymphangiogenic drugs. New imaging techniques to characterize lymphatic flow, such as dynamic contrast-enhanced magnetic resonance lymphangiogram, are redefining approaches to disease classification and therapy.

Rare congenital pulmonary malformation with diagnostic challenging: congenital pulmonary lymphangiectasia, report of four autopsy cases and review of literature.

Congenital pulmonary lymphangiectasia (CPL) is a rare congenital disorder that typically presents with intractable respiratory failure in the first few days of life. There is an association non-immun hydrops and CPL. In this study we reviewed four CPL cases between January 2006 and January 2014 among 684 fetal-pediatric autopsies. All cases were in the second trimester. In light microscopy there were marked dilatated channels in the subpleural -peribronchial-subseptal region of the lungs. The channels were lined with flattened cells which were expressing CD 31 and D2-40, negative for CD34. Although pulmonary interstitial emphysema (PIE) was considered an important differential diagnosis, a giant cell reaction surrounding the interstitial cystic lesions, a histological hallmark of PIE. CPL is characterized by dilatation of the pulmonary lymphatic vessels and occurs as a congenital anomaly. Noonan classified it into three groups. Primary developmental defect of pulmonary lymphatics is group 3. Group 3 is called also as CPL; normal regression of the connective tissue elements fails to occur after the 16th week of fetal life, associated with an aggressive clinical course, poor prognosis. In fetal autopsy examination CPL should be recognized if there is a fetus with pleural effusion, non-immune hydrops. There is no clinical evidence for CPL.

A Rare Case of Chylothorax due to Pulmonary Lymphangiectasia in a 7-Year-Old Boy.

Pulmonary lymphangiectasia (PL) is a rare condition characterized by dilatation of the lymphatic vessels. Post-neonatal PL is usually associated with pleural effusion and should therefore be suspected in the presence of chylothorax. We describe a post-neonatal manifestation of PL in a 7-year-old boy presenting chylothorax. Radiological examinations included thorax X-ray, ultrasound, and computed tomography scans. After the failure of conservative management (maintenance of the chest tube, total parenteral nutrition, administration of somatostatin synthetic analogues) we performed a thoracoscopic massive ligation of the thoracic duct's collateral along with a lung biopsy. Histology was compatible with type 1 congenital pulmonary lymphangectasia. One month after surgery a thoracoscopic pleurodesis was required for persistent chylothorax. The boy is now doing well 1 year after surgery.

Report a case of congenital pulmonary lymphangiectasia with fetal pleural effusions / 临床儿科杂志

ObjectiveTo summarize and review the clinical characteristics of congenital pulmonary lymphangiectasia with fetal bilateral pleural effusions.MethodsThe clinical data of a newborn diagnosed as congenital pulmonary lymphangiec-tasia with bilateral pleural effusions in Obstetrics and Gynecology Hospital, was summarized. The clinical, radiographic features, treatment and prognosis of this case are discussed in the context of the literature review.ResultsThe premature infants present-ed with rapid progression bilateral pleural effusions, respiratory distress, chylothorax, hypoalbuminemia and persistent pulmo-nary hypertension at birth. The pulmonary surfactant was given and mechanical ventilation was used for respiratory support. NO was inhaled, high-frequency mechanical ventilation was applied and albumin was repeatedly administered. After treatment for 3 months in the NICU, the patient was discharged. After 10 days, the patient was administered to the PICU with severe pneumo-nia, chronic lung disease, mechanical ventilation and anti-infection treatments were applied for 2 months. After living for six months, the baby died.ConclusionsCongenital pulmonary lymphangiectasia is extremely rare and prenatal diagnosis was dif-ifcult. The disease should be considered in patients presented with progressive dyspnea, interstitial emphysema after birth. Lung tissue biopsy and radioisotope scanning should be performed in time to get diagnosis.

Congenital Pulmonary Lymphangiectasia, Associated with Total Anomalous Pulmonary Venous Return

Congenital pulmonary lymphangiectasia (CPL) is very rare. It shows diffuse pulmonary lymphatic dilatation without lymphatic proliferation. CPL can occur as a primary disorder or arise secondarily from other diseases such as the obstruction of pulmonary veins or lymphatics. The prognosis of CPL is very poor. Approximately 50% of infants are stillborn and most others usually die within the first day of life. The present case showed diffuse lymphangiectasia in the subpleural, interlobular, and peribronchovascular areas. The flat lining cells were immunohistochemically positive for D2-40 and CD31. CPL is usually diagnosed by clinicoradiological or postmortem examinations. However, our case was diagnosed by an antemortem lung biopsy. We report a case of CPL with total anomalous pulmonary venous return.

A Case of Congenital Pulmonary Lymphangiectasia in Noonan Syndrome

Congenital pulmonary lymphangiectasia is a rare and perphaps underestimated cause of fatal respiratory distress in the neonate or infant. Pathologically, this condition is characterized by wide lymphatic channels in the subpleural and peribronchovascular spaces and the interlobular septa. Noonan syndrome is characterized by a phenotype similar to Turner syndrome but with a normal karyotype. Both pulmonary and intestinal lymphangiectasia have been reported in patients with Noonan syndrome. We have experienced a case of congenital pulmonary lymphangiectasia in Noonan syndrome, who presented at birth with cyanosis and persistent respiratory distress, and died on 93 postnatal days. We report this case, which was diagnosed by open lung biopsy and autopsy, with brief review of the related literature.