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.

Hypoplastic left heart syndrome and the nutmeg lung pattern in utero: a cause and effect relationship or prognostic indicator?

BACKGROUND: Hypoplastic left heart syndrome (HLHS) is the third most common cause of critical congenital heart disease in newborns, and one of the most challenging forms to treat. Secondary pulmonary lymphangiectasia has been recognized in association with HLHS, an appearance described on fetal MRI as the "nutmeg lung." OBJECTIVE: To investigate the association of fetal nutmeg lung with HLHS survival. MATERIALS AND METHODS: A retrospective search of the fetal MRI database was performed. The nutmeg lung pattern was defined as T2 heterogeneous signal with tubular structures radiating peripherally from the hila. Postnatal echocardiograms and charts were reviewed. RESULTS: Forty-four fetal MR studies met inclusion criteria, of which 4 patients (9%) had the nutmeg lung pattern and 3 of whom also had restrictive lesions. Mortality in this nutmeg lung group was 100% by 5 months of age. Of the 40 patients without nutmeg lung, mortality/orthotopic heart transplant (OHT) was 35%. Of these 40 patients without nutmeg lung, 5 had restriction on echo, 3 of whom died/had OHT before 5 months of age (60% of patients with restriction and non-nutmeg lung). There was a significantly higher incidence of restrictive lesions (P = 0.02) and mortality/OHT (P = 0.02) in patients with nutmeg lung compared to those without. CONCLUSION: The nutmeg lung MR appearance in HLHS fetuses is associated with increased mortality/OHT (100% in the first 5 months of life compared to 35% with HLHS alone). Not all patients with restrictive lesions develop nutmeg lung, and outcome is not as poor when restriction is present in isolation. Dedicated evaluation for nutmeg lung pattern on fetal MR studies may be useful to guide prognostication and aid clinicians in counseling parents of fetuses with HLHS.

Outcome of children with pulmonary lymphangiectasis.

Pulmonary lymphangiectasis (PL) is a very rare developmental defect of the lungs, which has previously been reported to have a very poor prognosis. However, recent reports have suggested improved outcomes, possibly as a result of advances in neonatal and pediatric intensive care medicine. We performed a retrospective study on the outcome of children with PL between 1990 and 2008 referred to our tertiary center. Seven patients with histologically proven PL were identified over the 18-year period. Six patients presented in the neonatal period and one patient at 7 months of age, all of them requiring intensive care treatment. Three neonatal patients required extracorporeal membrane oxygenation (ECMO). Six of the seven patients did not survive including all those who received ECMO. Two of the six non-survivors died of other causes than their underlying disease. The only survivor had an antenatal diagnosis of hydrops and required in utero chest drain insertion. Postnatally he was managed with maximal medical treatment for bilateral pleural effusions and persistent pulmonary hypertension. A 7-month follow-up showed this infant to be doing well. In conclusion overall the prognosis of congenital PL remains poor. The one survivor demonstrates that this condition is survivable with aggressive intervention and as current evidence suggests gradual improvement of symptoms may occur over time, and that maximal medical treatment remains warranted.

Hypoplasia of the small pulmonary arteries in total anomalous pulmonary venous connection with obstructed pulmonary venous drainage.

OBJECTIVE: Preoperative pulmonary venous obstruction has been reported to be a risk factor negatively impacting survival in total anomalous pulmonary venous connection. We examined lung tissue from total anomalous pulmonary venous connection patients with pulmonary venous obstruction and demonstrated hypoplasia of small pulmonary arteries to elucidate the mechanism underlying the poor outcome. METHODS: Ten total anomalous pulmonary venous connection patients with preoperative pulmonary venous obstruction between the ages of 2 days and 10 months were studied. As histological parameters, we assessed the size of small pulmonary arteries in relation to the size of accompanying bronchioles to identify small pulmonary artery underdevelopment. Other parameters, such as the radial alveolar count, which reflects alveolar maturity, intimal lesions, lymphangiectasia, and the medial thickness of small pulmonary arteries and small pulmonary veins, were also examined. As a control group, we examined 24 autopsy cases with no congenital heart or pulmonary disease. RESULTS: When the radius of the accompanying bronchiole was 100 microm, the radius of small pulmonary artery in the control group was found to enlarge for the first 2 months and then remain stable at approximately 80 microm from 2 to 10 months. In total anomalous pulmonary venous connection with preoperative pulmonary venous obstruction, the radius was significantly lower than in the control (47.0 +/- 21.8 microm versus 75.9 +/- 9.8 microm, P <.001), and the difference between dead and surviving patients was significant at P <.001 (33.0 +/- 14.6 microm versus 68.2 +/- 9.2 microm). Examination of the alveoli yielded an radial alveolar count of 4.6 +/- 1.5 in the control group and 4.4 +/- 0.8 in the total anomalous pulmonary venous connection patients, and the difference was not significant (P =.71). CONCLUSIONS: The small pulmonary arteries of total anomalous pulmonary venous connection patients with preoperative pulmonary venous obstruction were underdeveloped compared with controls but their alveolae were not hypoplastic. These results suggested that the small pulmonary artery hypoplasia may be responsible for the poor outcome of these patients.

Pulmonary lymphangiectasia revisited.

PURPOSE: Pulmonary lymphangiectasia (PL) is a rare, poorly documented disease characterized by abnormal pulmonary lymphatics. Although case reports are published, little is known about survivors past the neonatal period. METHODS: This is a retrospective review of histologically proven PL in fetuses, infants, and long term survivors since 1965. RESULTS: Eleven children (8 boys, 3 girls) and 8 aborted fetuses (7 male, 1 female) were identified. The fetuses weighed 463.4 g (177 to 681 g). Six were aborted between 19 to 24 weeks of gestation for multiple malformations or anencephaly, and 2 spontaneously aborted: one with PL only, the other with twin-twin transfusion syndrome. Clinical PL was diagnosed between 0 and 11 months of age. Six children died (2 neonatal, 4 within 10 days), 5 survived. Two deaths occurred after cardiac surgery. Among survivors, the symptomatology and frequency of admissions diminished over time. Symptoms included progressive respiratory distress, chronic cough, recurrent pneumonia, bronchial asthma, and choking. One child with bilateral chylothorax was later diagnosed with Noonan syndrome; 2 patients had minor cardiac malformations. Rapid deterioration occurred with mild respiratory infections with only supportive treatment available. Chest x-ray showed marked hyperinflation with interstitial infiltrate. CONCLUSIONS: This is the first long-term study of primary PL and will help counsel parents. Although fatal in the neonatal period, survival is possible if diagnosed past the neonatal period and improvement is expected.