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.

Diagnosis and treatment of cryptococcal osteomyelitis in a pediatric lung transplant patient.

BACKGROUND: Asymptomatic pulmonary nodules may appear at any point after lung transplantation. The differential diagnosis is broad and includes serious life-threatening disease entities. METHODS: A retrospective case report of a single patient who developed a pulmonary nodule after lung transplantation. RESULTS: At 2 years post-transplant, an 11-year-old with cystic fibrosis was asymptomatic and had normal lung function. A single nodule was noted on surveillance chest CT scan. Initial evaluation was negative, but subsequently, he was diagnosed with cryptococcal osteomyelitis in a thoracic rib. He responded well to an extended course of antifungal therapy without loss of allograft function or infectious complications. CONCLUSION: Pulmonary nodules after lung transplantation may be a harbinger of serious complications. A systematic approach to evaluation and follow-up is recommended.

Influence of early extubation on post-operative outcomes after pediatric lung transplantation.

Lung transplantation has become an accepted therapeutic option for a select group of children with end-stage lung disease. We evaluated the impact of early extubation in a pediatric lung transplant population and its post-operative outcomes. Single-center retrospective study. PICU within a tertiary academic pediatric hospital. Patients <22 years after pulmonary transplant between January 2011 and December 2016. A total of 74 patients underwent lung transplantation. The primary pretransplantation diagnoses included cystic fibrosis (58%), pulmonary fibrosis (9%), and surfactant dysfunction disorders (10%). Of 60 patients, 36 (60%) were extubated within 24 hours and 24 patients after 24 hours (40%). A total of seven patients (11.6%) required reintubation within 24 hours. Median length of stay for the early extubation group was shorter at 3 days ([(IQR) 2.2-4.7]) compared to 5 days (IQR, 3-7) (P = .02) in the late extubation group. Median costs were lower for the early extubation group with 13,833 US dollars (IQR, 9980-22,822) vs 23 671 US dollars (IQR, 16 673-39 267) (P = .043). Fourteen patients were in the PICU prior to their transplantation; this did not affect their early extubation success. Neither did the fact of requiring invasive or non-invasive mechanical ventilation before transplantation. Early extubation appears to be safe in a pediatric population after lung transplantation and is associated with a shorter LOS and decreased hospital costs. It may prevent known complications associated with mechanical ventilation.

A Multidisciplinary Approach to Pretransplant and Posttransplant Management of Cystic Fibrosis-Associated Liver Disease.

Approximately 5%-10% of patients with cystic fibrosis (CF) will develop advanced liver disease with portal hypertension, representing the third leading cause of death among patients with CF. Cystic fibrosis with advanced liver disease and portal hypertension (CFLD) represents the most significant risk to patient mortality, second only to pulmonary or lung transplant complications in patients with CF. Currently, there is no medical therapy to treat or reverse CFLD. Liver transplantation (LT) in patients with CFLD with portal hypertension confers a significant survival advantage over those who do not receive LT, although the timing in which to optimize this benefit is unclear. Despite the value and efficacy of LT in selected patients with CFLD, established clinical criteria outlining indications and timing for LT as well as disease-specific transplant considerations are notably absent. The goal of this comprehensive and multidisciplinary report is to present recommendations on the unique CF-specific pre- and post-LT management issues clinicians should consider and will face.

Clinico-radiologic features of pleuroparenchymal fibroelastosis in children.

BACKGROUND: Pleuroparenchymal fibroelastosis (PPFE) may be underdiagnosed clinically and radiographically in children with a remote history of cancer, leading to a delay in care and unnecessary lung biopsies. OBJECTIVE: To describe the characteristic clinical and radiologic findings of PPFE in a cohort of children to facilitate recognition and noninvasive diagnosis. MATERIALS AND METHODS: Clinical presentation, history of chemotherapy or radiation therapy, lung or bone marrow transplantation, and lung function testing and outcome were retrospectively extracted from the electronic medical records of eight children treated at our institution's pulmonary medicine clinic with histopathology confirmation of PPFE from 2008 to 2018. Two pediatric radiologists evaluated the chest imaging studies for the presence or absence of published radiologic findings of PPFE in adults, including platythorax, pneumothorax, upper lobe predominant pleural and septal thickening, and bronchiectasis. Platythorax indices were calculated from the normal chest CT exams of eight age- and gender-matched individuals obtained via the radiology search engine. RESULTS: The mean presentation age was 12.9 years (range: 7-16 years). Seven of the eight had a history of chemotherapy and radiation therapy for cancer. Three of the eight had undergone bone marrow transplantation and none had undergone lung transplantation. The mean time between chemotherapy, radiation therapy, and/or bone marrow transplantation and the presentation of PPFE was 8.4 years (range: 5.6-12.1 years). Most of the patients presented with dyspnea (63%), cough (50%) and/or pneumothorax (38%). The mean percentage of predicted FEV1 (forced expiratory volume in one second) was 14.1 (range: 7.7-27.5). All eight patients demonstrated platythorax, bronchiectasis, pleural and septal thickening (upper lobes in four, upper and lower lobes in four) and six had pneumothorax. Five underwent lung biopsies, four of whom developed pneumothoraces. CONCLUSION: Clinical and radiologic findings of pediatric PPFE are similar to those in adults, although a majority of the former have a history of treated cancer. Clinical presentation of restrictive lung disease, dyspnea, cough or spontaneous pneumothorax years after treatment for childhood cancer combined with platythorax, upper lobe pleural and septal thickening and traction bronchiectasis on chest CT establishes a presumptive diagnosis of PPFE.

Hospital Readmissions in Children with Pulmonary Hypertension: A Multi-Institutional Analysis.

OBJECTIVE: To assess the rate of and risk factors for 30-day hospital readmission in children with pulmonary hypertension. STUDY DESIGN: The Pediatric Health Information System database was analyzed for patients ≤18 years old with pulmonary hypertension (International Classification of Diseases, Ninth Revision, diagnosis codes of 416.0, 416.1, 416.8, or 416.9) admitted from 2005 through 2014. A generalized hierarchical regression model was used to determine significant ORs and 95% CIs associated with 30-day readmission. RESULTS: A total of 13580 patients met inclusion criteria (median age 1.7 years [IQR 0.3-8.7], 45.3% with congenital heart disease). Admissions increased 4-fold throughout the study period. Associated hospital charges increased from $119 million in 2004 to $929 million in 2014. During initial admission, 57.4% of patients required admission to the intensive care unit, and 48.2% required mechanical ventilation. The 30-day readmission rate was 26.3%. Mortality during readmission was 4.2%. Factors increasing odds of readmission included a lower hospital volume of pulmonary hypertension admissions (1.41 [1.23-1.57], P < .001) and having public insurance (1.26 [1.16-1.38], P < .001). Decreased odds of readmission were associated with older age and the presence of congenital heart disease (0.86 [0.79-0.93], P < .001). CONCLUSIONS: The pediatric pulmonary hypertension population carries significant morbidity, as reflected by a high use of intensive care unit resources and a high 30-day readmission rate. Younger patients and those with public insurance represent particularly at-risk groups.

Risk factors for infection after pediatric lung transplantation.

Although infection is the leading cause of death in the first year following pediatric lung transplantation, there are limited data on risk factors for early infection. Sepsis remains under-recognized and under-reported in the early post-operative period for lung transplant recipients (LTR). We evaluated the incidence of infection and sepsis, and identified risk factors for infection in the early post-operative period in pediatric LTRs. A retrospective review of medical records of LTRs at a large quaternary-care hospital from January 2009 to March 2016 was conducted. Microbiology results on days 0-7 after transplant were obtained. Sepsis was defined using the 2005 International Pediatric Consensus Conferencecriteria. Risk factors included history of recipient and donor infection, history of multi-drug resistant (MDR) infection, nutritional status, and surgical times. Among the 98 LTRs, there were 22 (22%) with post-operative infection. Prolonged donor ischemic time ≥7 hours, cardiopulmonary bypass(CPB) time ≥340 minutes, history of MDR infection and diagnosis of cystic fibrosis were significantly associated with infection. With multivariable regression analysis, only prolonged donor ischemic time remained significant (OR 4.4, 95% CI: 1.34-14.48). Further research is needed to determine whether processes to reduce donor ischemic time could result in decreased post-transplant morbidity.

Lung Transplantation for FLNA-Associated Progressive Lung Disease.

OBJECTIVE: To describe a series of patients with pathogenic variants in FLNA and progressive lung disease necessitating lung transplantation. STUDY DESIGN: We conducted a retrospective chart review of 6 female infants with heterozygous presumed loss-of-function pathogenic variants in FLNA whose initial presentation was early and progressive respiratory failure. RESULTS: Each patient received lung transplantation at an average age of 11 months (range, 5-15 months). All patients had pulmonary arterial hypertension and chronic respiratory failure requiring tracheostomy and escalating levels of ventilator support before transplantation. All 6 patients survived initial lung transplantation; however, 1 patient died after a subsequent heart-lung transplant. The remaining 5 patients are living unrestricted lives on chronic immunosuppression at most recent follow-up (range, 19 months to 11.3 years post-transplantation). However, in all patients, severe ascending aortic dilation has been observed with aortic regurgitation. CONCLUSIONS: Respiratory failure secondary to progressive obstructive lung disease during infancy may be the presenting phenotype of FLNA-associated periventricular nodular heterotopia. We describe a cohort of patients with progressive respiratory failure related to a pathogenic variant in FLNA and present lung transplantation as a viable therapeutic option for this group of patients.

Transplant center volume and outcomes in lung transplantation for cystic fibrosis.

Transplant volume represents lung transplant (LTx) expertise and predicts outcomes, so we sought to determine outcomes related to center volumes in cystic fibrosis (CF). United Network for Organ Sharing data were queried for patients with CF in the United States (US) receiving bilateral LTx from 2005 to 2015. Multivariable Cox regression was used to model survival to 1 year and long-term (>1 year) survival, conditional on surviving at least 1 year. A total of 2025 patients and 67 centers were included in the analysis. The median annual LTx volumes were three in CF [interquartile range (IQR): 2, 6] and 17 in non-CF (IQR: 8, 33). Multivariable Cox regression in cases with complete data and surviving at least 1 year (n = 1510) demonstrated that greater annual CF LTx volume (HR per 10 LTx = 0.66; 95% CI: 0.49, 0.89; P = 0.006) but not greater non-CF LTx volume (HR = 1.00; 95% CI: 0.96, 1.05; P = 0.844) was associated with improved long-term survival in LTx recipients with CF. A Wald interaction test confirmed that CF LTx volume was more strongly associated with long-term outcomes than non-CF LTx volume (P = 0.012). In a US cohort, center volume was not associated with 1-year survival. CF-specific expertise predicted improved long-term outcomes of LTx for CF, whereas general LTx expertise was unassociated with CF patients' survival.

Pediatric Pulmonary Hypertension: Guidelines From the American Heart Association and American Thoracic Society.

Pulmonary hypertension is associated with diverse cardiac, pulmonary, and systemic diseases in neonates, infants, and older children and contributes to significant morbidity and mortality. However, current approaches to caring for pediatric patients with pulmonary hypertension have been limited by the lack of consensus guidelines from experts in the field. In a joint effort from the American Heart Association and American Thoracic Society, a panel of experienced clinicians and clinician-scientists was assembled to review the current literature and to make recommendations on the diagnosis, evaluation, and treatment of pediatric pulmonary hypertension. This publication presents the results of extensive literature reviews, discussions, and formal scoring of recommendations for the care of children with pulmonary hypertension.

Predischarge death or lung transplantation in tracheostomy and ventilator dependent grade 3 bronchopulmonary dysplasia.

BACKGROUND: Premature infants surviving beyond a postmenstrual age (PMA) of 36 weeks with severe or grade 3 bronchopulmonary dysplasia (sBPD) have significant predischarge mortality. The in-hospital mortality for BPD supported by invasive mechanical ventilation beyond 36 weeks PMA is not well described. The role of lung transplantation in treating severe BPD is uncertain. We studied our experience over 20 years to better define the predischarge mortality of infants with progressive grade 3 BPD and whether lung transplant is a feasible intervention. METHODS: Data were obtained from a retrospective review of medical records from Children's Minnesota over a 20-year period (1997-2016). Inclusion criteria included prematurity <32 weeks PMA, BPD, tracheostomy for chronic respiratory failure, and survival beyond 36 weeks PMA. Collected data included perinatal demographics, in-hospital medications and interventions, level of respiratory support, and outcomes. RESULTS: In all, 2374 infants were identified who survived beyond 36 weeks PMA with a diagnosis of <32 weeks gestation prematurity and BPD. Of these, 143/2374 (6.0%) survived beyond 36 weeks PMA and required invasive mechanical ventilation with subsequent tracheostomy for management. Among these patients, discharge to home with tracheostomy occurred in 127/143 (88.8%), and predischarge death or lung transplantation occurred in 16/143 (11.2%). Deteriorating cardiopulmonary status was associated with pulmonary hypertension, prolonged hypoxemic episodes and the need for deep sedation or neuromuscular relaxation. Three of four patients referred for lung transplantation had >5-year survival, chronic allograft rejection, and mild to moderate developmental delays. CONCLUSIONS: Chronic respiratory failure requiring invasive mechanical ventilation for grade 3 BPD is associated with significant morbidity and mortality. For selected patients and their families, timely referral for lung transplantation is a viable option for end-stage grade 3 BPD. As in other infants receiving solid organ transplants, long-term issues with co-morbidities and special needs persist into childhood.

Oxygen therapy for cystic fibrosis.

BACKGROUND: The most serious complications of cystic fibrosis (CF) relate to respiratory insufficiency. Oxygen supplementation therapy has long been a standard of care for individuals with chronic lung diseases associated with hypoxemia. Physicians commonly prescribe oxygen therapy for people with CF when hypoxemia occurs. However, it is unclear if empiric evidence is available to provide indications for this therapy with its financial costs and often profound impact on lifestyle. OBJECTIVES: To assess whether oxygen therapy improves the longevity or quality of life of individuals with CF. SEARCH METHODS: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Trials Register, comprising references identified from comprehensive electronic database searches and handsearches of relevant journals and abstract books of conference proceedings.Latest search of Group's Trials Register: 15 May 2013. SELECTION CRITERIA: Randomized or quasi-randomized controlled trials comparing oxygen, administered at any concentration, by any route, in people with documented CF for any time period. DATA COLLECTION AND ANALYSIS: Authors independently assessed the risk of bias for included studies and extracted data. MAIN RESULTS: This review includes 11 published studies (172 participants); only one examined long-term oxygen therapy (28 participants). There was no statistically significant improvement in survival, lung, or cardiac health. There was an improvement in regular attendance at school or work in those receiving oxygen therapy at 6 and 12 months. Four studies examined the effect of oxygen supplementation during sleep by polysomnography. Although oxygenation improved, mild hypercapnia was noted. Participants fell asleep quicker and spent a reduced percentage of total sleep time in rapid eye movement sleep, but there were no demonstrable improvements in qualitative sleep parameters. Six studies evaluated oxygen supplementation during exercise. Again, oxygenation improved, but mild hypercapnia resulted. Participants receiving oxygen therapy were able to exercise for a significantly longer duration during exercise. Other exercise parameters were not altered by the use of oxygen. AUTHORS' CONCLUSIONS: There are no published data to guide the prescription of chronic oxygen supplementation to people with advanced lung disease due to CF. Short-term oxygen therapy during sleep and exercise improves oxygenation but is associated with modest and probably clinically inconsequential hypercapnia. There are improvements in exercise duration, time to fall asleep and regular attendance at school or work. There is a need for larger, well-designed clinical trials to assess the benefits of long-term oxygen therapy in people with CF administered continuously or during exercise or sleep or both. However, we do not expect any new research to be undertaken in this area any time soon and do not plan to update this review again until any new evidence does become available.

Differential donor management of pediatric vs adult organ donors and potential impact on pediatric lung transplantation.

BACKGROUND: Despite clinical progress over time, a shortage of suitable donor organs continues to limit solid organ transplantation around the world. Lungs are the organs most likely to be assessed as unsuitable during donor management among all transplantable organs. Although the number of lung transplants performed in children is limited, death on the wait list remains a barrier to transplant success for many potential transplant candidates. Optimizing organ donor management can yield additional organs for transplant candidates. METHODOLOGY: We accessed the Donor Management Goal (DMG) Registry to evaluate the efficiency and efficacy of donor management in the procurement of lungs for transplantation. Further, we stratified donors by age and compared pediatric age cohorts to adult cohorts with respect to attainment of donor management target goals and successful pathway to transplantation. We utilized recipient data from the Organ Procurement Transplantation Network (OPTN) to put this data into context. The DMG bundle consists of nine physiologic parameters chosen as end-points guiding donor management for potential organ donors. The number of parameters fulfilled has been regarded as an indication of efficacy of donor management. RESULTS: We noted a markedly lower number of organ donors in the pediatric age group compared to adults. On the other hand, the number of donors greatly exceeds the number of infants, children and adolescents who undergo lung transplantation. Organs transplanted per donor peaks in the adolescent age group. At initial donor referral, DMG bundle attainment is lower in all age groups and improves during donor management. With respect to oxygenation, there is less overall improvement in younger donors compared to older donors during donor management. When donors who yield lungs for transplantation are compared to those whose lungs were not transplanted, oxygenation improved more substantially during donor management. Furthermore, improved oxygenation correlated with the total number of organs transplanted per donor. CONCLUSIONS: In the face of continued wait list mortality on the pediatric lung transplant wait list, the number of young donors may not be a limiting factor. We believe that this dataset provides evidence that management of young pediatric donors is not as consistent or efficient as the management of older donors, potentially limiting the number of life-saving organs for pediatric lung transplant candidates. Across all ages, optimizing donor lung management may increase the potential to transplant multiple other organs.

The cascade screening in heritable forms of pulmonary arterial hypertension.

Heritable pulmonary artery hypertension (HPAH) is an increasingly recognized type of pulmonary arterial hypertension, in both pediatric and adult population. Intrinsic to hereditary disease, screening for genetic mutations within families is an important component of diagnosis and understanding burden of disease. Recently, consensus guidelines are published for genetic screening in PAH. These guidelines include recommendations for screening at diagnosis, noting individuals with presumed PAH due to familial, or idiopathic etiologies. Cascade genetic testing is specifically recommended as a testing paradigm to screen relatives for detection of mutation carriers, who may be asymptomatic. Without targeted genetic testing, familial mutation carriers may only come to attention when pulmonary vascular disease burden is high enough to cause symptoms, suggesting more advanced disease. Here, we present our collective experience with HPAH in five distinct families, specifically to report on the clinical courses of patients who were diagnosed with genetic mutation at diagnosis versus those who were offered genetic screening. In three families, asymptomatic mutation carriers were identified and monitored for clinical worsening. In two families, screening was not done and affected family members presented with advanced disease.

Improved Outcomes for Infants and Young Children Undergoing Lung Transplantation at Three Years of Age and Younger.

Rationale: Since its inception, older children and adolescents have predominated in pediatric lung transplantation. Most pediatric lung transplant programs around the world have transplanted few infants and young children. Early mortality after lung transplantation and inadequate donor organs have been perceived as limitations for success in lung transplantation at this age. Objectives: Our aim was to describe our experience in a large pediatric lung transplant program with respect to lung transplantation in infants and young children, focusing on diagnosis, waitlist, and mortality. Methods: We performed a retrospective review of infants and young children under 3 years of age at the time of transplant in our program from 2002 through 2020. Results: The patient cohort represented a severely morbid recipient group, with the majority hospitalized in the intensive care unit on mechanical ventilation just before transplantation. There was a marked heterogeneity of diagnoses distinct from diagnoses in an older cohort. Waitlist time was shorter than in older age cohorts. There was a decrease in early mortality, lower incidence of allograft rejection, and satisfactory long-term survival in this age group compared with the older cohort and published experience. Severe viral infection was an important cause of early mortality after transplant. Nonetheless, survival is comparable to older patients, with better enduring survival in those who survive the early transplant period in more recent years. Conclusions: Carefully selected infants and young children with end-stage lung and pulmonary vascular disease are appropriate candidates for lung transplantation and are likely underserved by current clinical practice.

Use of Berlin EXCOR cannulas in both venovenous and venoarterial central extracorporeal membrane oxygenation configurations overcomes the problem of cannula instability while bridging infants and young children to lung transplant.

Objectives: Infants and young children awaiting lung transplantation present challenges that often preclude successful extracorporeal membrane oxygenation support as a bridge to transplantation. Instability of neck cannulas often results in the need for intubation, mechanical ventilation, and muscle relaxation creating a worse transplant candidate. With the use of Berlin Heart EXCOR cannulas (Berlin Heart, Inc) in both venoarterial and venovenous central cannulation configurations, 5 pediatric patients were successfully bridged to lung transplant. Methods: We performed a single-center retrospective case review of central extracorporeal membrane oxygenation cannulation used as a bridge to lung transplantation cases performed at Texas Children's Hospital between 2019 and 2021. Results: Six patients, 2 with pulmonary veno-occlusive disease (15-month-old male and 8-month-old male), 1 with ABCA3 mutation (2-month-old female), 1 with surfactant protein B deficiency (2-month-old female), 1 with pulmonary arterial hypertension in the setting of D-transposition of the great arteries after repair as a neonate (13-year-old male), and 1 with cystic fibrosis and end-stage lung disease, were supported for a median of 56.3 days on extracorporeal membrane oxygenation while awaiting transplantation. All patients were extubated after initiation of extracorporeal membrane oxygenation, participating in rehabilitation until transplant. No complications due to central cannulation and use of the Berlin Heart EXCOR cannulas were observed. One patient with cystic fibrosis developed fungal mediastinitis and osteomyelitis resulting in discontinuation of mechanical support and death. Conclusions: Novel use of Berlin Heart EXCOR cannulas for central cannulation eliminates the problem of cannula instability allowing extubation, rehabilitation, and bridge to lung transplant for infants and young children.

Cystic fibrosis lung transplant recipients 10 years of age or younger: Predisposing factors for end-stage disease.

BACKGROUND: The largest age group among children and adolescents referred for lung transplantation for cystic fibrosis (CF) have been those in the pubertal or postpubertal age range. However, over 100 younger patients with CF have undergone lung transplantation over the last three decades in the United States. METHODS: We performed a retrospective review of our experience with 18 children with CF who underwent lung transplantation in our center before the age of 11 years and compared them to our older CF lung transplant recipients and our larger CF Center population. RESULTS: The transplant population was demographically distinct from our CF center in terms of ethnicity, country of origin, and insurance status. Other notable findings were a high prevalence of methicillin-resistant Staphylococcus aureus, a high prevalence of CF-related diabetes mellitus, and a high prevalence of consolidated lobar or whole lung disease. Posttransplant outcomes were comparable to those older than 10 years of age in our center until 5 years after transplant after which the younger cohort showed a superior enduring survival. CONCLUSIONS: In an era of increasingly effective medications modifying the natural history of CF, identification of risk factors for early severe lung disease in CF remains relevant to permit interventions to prevent or postpone the time of future lung transplantation.

Application of lung volume reduction surgery for a child with filamin A (FLNA) mutations.

Diffuse lung disease in early childhood due to mutations in the filamin A gene has been recently reported. Clinical outcomes vary among individuals indicating variability in phenotype but a substantial proportion of reported cases in early life have ended up in death or lung transplantation. We recently encountered a school-aged child in whom the diagnosis of a filamin A mutation was delayed and the natural history of emphysematous lung disease was altered by serial lung volume reduction surgeries. She eventually underwent a bilateral lung transplant and we report the natural history of her disease and treatments applied herein.

Lung transplant referrals for individuals with cystic fibrosis: A pediatric perspective on the cystic fibrosis foundation consensus guidelines.

Lung transplant referral guidelines for individuals with cystic fibrosis (CF) were published recently. Most of the recommendations focus on the specific indications and barriers to transplantation in adults with CF. Although the number of children with CF and end-stage lung disease continues to decrease, the specific issues related to pediatric patients merit further elucidation. We address each recommendation from the recent publication with a pediatric perspective. Furthermore, we note some significant differences between the practice and policy related to lung transplantation between Canada and the United States.