Acutely presenting congenital chest lesions: a primer for the radiologist.

Congenital chest lesions encompass several important entities. Without prompt intervention, many of these can culminate in serious complications. Timely and accurate radiologic interpretation of these entities is integral to patient management. Imaging can help characterize and prognosticate several of these entities, and may both suggest the need for and guide therapy. We overview the clinical presentation, associated complications, imaging characteristics, and prognostic indicators-both postnatal and antenatal-of the spectrum of emergently presenting congenital chest lesions. We also outline current and evolving management strategies, whether fetal, peripartum, or postnatal. The ultimate goal is to help radiologists formulate timely and effective diagnoses of these entities and boost the relevance of their input towards clinical decision-making.

Intrathoracic shunt displacement with massive pleural effusion after successful shunt placement in a hydropic fetus with multilocular macrocystic congenital pulmonary airway malformation.

We successfully performed shunting for a fetus with a multilocular macrocystic lung mass with hydrops at 22 weeks' gestation. Complete resolution of hydrops was achieved; however, at 35 weeks' gestation, the fetus developed acute massive pleural effusion. Fetal ultrasound examination revealed that one end of the shunting tube had migrated downward in the thoracic cavity, which led to fluid draining from the lung cyst. The baby was delivered at term and was discharged following neonatal intensive care management. Intrathoracic displacement of the shunt can occur, followed by massive pleural effusion due to drainage of cystic fluid.

Fetal Sclerotherapy for Hydropic Congenital Cystic Adenomatoid Malformations of the Lung Refractory to Steroids: A Case Report and Review of the Literature.

Microcystic congenital cystic adenomatoid malformations (CCAM), when associated with hydrops, carry a dismal prognosis. Options for treatment are limited and experimental, including antenatal corticosteroids, open fetal surgery, laser ablation and, more recently, sclerotherapy. We describe a case of a large, predominantly microcystic CCAM in a hydropic fetus treated successfully with direct interstitial injection of a sclerosant agent (3% sodium tetradecyl sulfate) at 23+3 weeks gestation, after multiple failed courses of steroids. Elective thoracoscopic right lower lobectomy was performed at 1 year of life and there have been no respiratory or other medical morbidities since. A literature review of fetal lung masses treated with sclerosants antenatally reveals that sclerotherapy may represent a novel treatment option for large hydropic microcystic CCAMs, which are unresponsive to corticosteroids. Further studies are required to evaluate the utility and safety of fetal sclerotherapy, as this may represent an alternative minimally invasive treatment option to fetal lobectomy.

Types II and III congenital pulmonary airway malformation with hydrops treated in utero with percutaneous sclerotherapy.

OBJECTIVE: To present outcomes of fetuses with congenital pulmonary airway malformation (CPAM) treated with sclerotherapy. METHODS: Retrospective study of 8 patients with a prenatal diagnosis of CPAM type II or III with secondary hydrops treated with percutaneous sclerotherapy using 5% ethanolamine oleate (EO). All patients underwent ultrasonic measurement of the CPAM volume ratio. Results are expressed as median (range). RESULTS: Gestational age at initial sclerotherapy was 22.0 weeks (19.6-31.4); 3 patients underwent 2 procedures. Intrauterine fetal demise (IUFD) occurred in 4 cases; 2 died on postoperative day #1 (one from inadvertent intravascular EO injection); 2 died >6 weeks after the procedure. Preoperative CPAM volume ratio was 3.6 (1.6-7.8) in survivors and 2.7 (1.7-4.7) in those with IUFD. The volume of EO at the initial sclerotherapy procedure was 3 mL (2-5) in survivors and 7 mL (6-10) in IUFD cases. The gestational age at delivery of the 4 survivors was 38.4 weeks (37.4-39.3); all underwent postnatal resection. CONCLUSION: The efficacy of percutaneous sclerotherapy for CPAM types II and III remains in question. Further studies are needed to determine the optimal dose of sclerotherapy agent and the safety and efficacy of this procedure.

Symptom development in originally asymptomatic CPAM diagnosed prenatally: a systematic review.

PURPOSE: For the approximately three quarters of patients with a prenatal diagnosis of congenital pulmonary airway malformation (CPAM) who are asymptomatic at birth, the chance of eventually developing symptoms is unknown. We sought to explore the natural history of asymptomatic CPAM. METHODS: We searched EMBASE, MEDLINE, and the first 50 results from Google Scholar. Studies describing the natural history of prenatally diagnosed, initially asymptomatic CPAM were included. For asymptomatic patients initially managed non-surgically, we tabulated the proportion who went on to develop symptoms as well as the median age at symptom development. RESULTS: We included data from 19 retrospective studies on 353 patients. Of the 128 patients managed expectantly, 31 (24.2%) developed symptoms requiring surgical intervention. The median age at symptom development was 7.5 months (range 15 days-5 years). CONCLUSION: The risk for developing respiratory symptoms exists with originally asymptomatic CPAM patients, but the exact risk is difficult to predict. Parents may be given the value of approximately 1 in 4 as an estimate of the proportion of asymptomatic CPAM patients who go on to develop symptoms, which will help them make an informed decision regarding the option of elective surgery.

[Antenatal ultrasound diagnosis and neonatal results of the congenital cystic adenomatoid malformation of the lung]. / Diagnóstico ecográfico prenatal y resultados neonatales de la malformación adenomatoidea quística pulmonar.

INTRODUCTION: Congenital cystic adenomatoid malformation (CCAM) is a rare congenital lung di sease, and in the most of cases, prenatal diagnosis is feasible. There are discrepancies regarding pre natal management and postpartum treatment. OBJECTIVE: To analyze prenatally diagnosed CCAM in our hospitals, in order to evaluate ultrasound findings with fetal and postnatal evolution. PATIENTS AND METHOD: Retrospective study of all cases diagnosed prenatally by ultrasound between 2005 and 2016 in two reference hospitals. The ultrasounds were performed using high-resolution ultrasound scanners, Toshiba Xario and Voluson 730 Expert Pro, with follow-up from diagnosis to delivery. The variables analyzed included gestational age at diagnosis, the characteristics of the lung lesion, associated malformations, cytogenetic study, the evolution of pregnancy, type of delivery, presence of respiratory distress, need for complementary imaging tests, pediatric clinical course, and necessary postnatal treatments. It was considered a resolution the total disappearance of the lesion in the pre natal ultrasound or that the postnatal chest X-ray showed no lesion. RESULTS: 17 cases were prenatally diagnosed. The evolution ranges from the prenatal resolution of the lesion to the persistence after bir th. Three patients voluntarily decided to have an abortion due to ultrasound findings of poor progno sis. Of the fourteen remaining cases there were no cases of fetal or neonatal deaths, one case required surgery after birth and four patients had mild symptoms during the first year of life. One case of false negative with neonatal death has been reported which necropsy reported as CCAM type 0. Conclu sions: This pulmonary malformation presents good prognosis, excluding cases with fetal hydrops. Two-dimensional ultrasound is usually enough for diagnosis and follow-up. Computed tomography is the technique of choice to confirm the resolution of lesions after birth. Surgical treatment is pre ferable over conservative management, although it is unknown if the potential complications of this disease, even when asymptomatic, justify surgical morbidity.

Congenital pulmonary airway malformations: state-of-the-art review for pediatrician's use.

Congenital pulmonary airway malformations or CPAM are rare developmental lung malformations, leading to cystic and/or adenomatous pulmonary areas. Nowadays, CPAM are diagnosed prenatally, improving the prenatal and immediate postnatal care and ultimately the knowledge on CPAM pathophysiology. CPAM natural evolution can lead to infections or malignancies, whose exact prevalence is still difficult to assess. The aim of this "state-of-the-art" review is to cover the recently published literature on CPAM management whether the pulmonary lesion was detected during pregnancy or after birth, the current indications of surgery or surveillance and finally its potential evolution to pleuro-pulmonary blastoma. CONCLUSION: Surgery remains the cornerstone treatment of symptomatic lesions but the postnatal management of asymptomatic CPAM remains controversial. There are pros and cons of surgical resection, as increasing rate of infections over time renders the surgery more difficult after months or years of evolution, as well as risk of malignancy, though exact incidence is still unknown. What is known: • Congenital pulmonary airway malformations (CPAM) are rare developmental lung malformations mainly antenatally diagnosed. • While the neonatal management of symptomatic CPAM is clear and includes prompt surgery, controversies remain for asymptomatic CPAM due to risk of infections and malignancies. What is new: • Increased rate of infection over time renders the surgery more difficult after months or years of evolution and pushes for recommendation of early elective surgery. • New molecular or pathological pathways may help in the distinction of type 4 CPAM from type I pleuropulmonary blastoma.

Congenital cystic adenomatoid malformation of the lung (CCAM), a retrospective clinical audit and literature review in a tertiary centre in Scotland over a period of 14 years.

This work was a retrospective audit of CCAM - 1994 to 2008. A total of 26 cases were identified. Mean gestational age at diagnosis was 20 weeks. All were unilateral and had serial scans. In 31% the lesion resolved, 8% decreased, 42% were unchanged and 4% increased in size. Only one foetus developed hydrops. All were born alive. Of 8 foetuses where the CCAM was thought to have resolved, 6 had persistent lesions (overall sensitivity and PPV of US 64% and 69%, respectively). Computerised tomography performed better than chest X-ray in detecting lesions postnatally (sensitivity 100% vs 88%, PPV 95% vs 78%). Seventeen cases required surgery, 4 conservative management and 2 were discharged following negative CXR; 12% had associated anomalies. Four babies had recurrent chest infections. CCAMs have a good overall prognosis. CT scan rather than CXR should be performed to confirm the resolution of antenatally diagnosed lesions. Surgical management is the preferred option over conservative management.

A Complication of Percutaneous Sclerotherapy for Congenital Pulmonary Airway Malformation: Intravascular Injection and Cardiac Necrosis.

INTRODUCTION: A congenital pulmonary airway malformation (CPAM) type III may become large enough to cause hydrops fetalis. In such circumstances, the fetus can be treated with open fetal resection, maternal betamethasone administration, or percutaneous sclerotherapy. CASE REPORT: A 24 week gestation fetus with a CPAM type III was treated by percutaneous sclerotherapy using ethanolamine oleate (EO). The EO inadvertently entered the left atrium and ventricle with subsequent fetal bradycardia and demise. Autopsy revealed myocardial necrosis. CONCLUSION: Percutaneous sclerotherapy has been previously described in the literature for the treatment of microcystic CPAMs with secondary hydrops. This is the first reported case of an adverse event after fetal sclerotherapy.

Perinatal features of congenital cystic lung diseases: results of a nationwide multicentric study in Japan.

PURPOSE: The current study aimed to assess the perinatal risk and clinical features of congenital cystic lung diseases (CCLD). MATERIALS AND METHODS: Of the 874 CCLD patients identified in a nationwide survey, 428 patients born between 1992 and 2012 and treated at 10 high-volume centers, were retrospectively reviewed. RESULTS: Fetal hydrops was visualized using MRI in 9.2 % of the patients. Prenatal interventions were described for 221 of the 428 patients, including the maternal administration of steroid and pleuro-amniotic shunting. Postnatally, a right-to-left shunt flow through a persistent ductus arteriosus was observed in 7.8 % of the patients. The fetal lung lesion volume ratio (LVR) was significantly higher among these symptomatic patients (2.04 ± 1.71 vs. 0.98 ± 0.50, P < 0.00071), and decreased to a greater degree in non-CCAM patients compared with CCAM patients during the late gestational period (from 1.37 ± 1.28 to 1.14 ± 0.84 in CCAM and from 1.08 ± 0.47 to 0.46 ± 0.64 in non-CCAM). CONCLUSIONS: An estimated 8-9 % of prenatally diagnosed patients carry the highest risk of perinatal respiratory distress. Fetal LVR remaining at a high level during the late gestational period seems to predict a high risk.

[FETAL THERAPY: INTRAUTERINE THORACO-AMNIOTIC SHUNTING IN MACROCYSTIC TYPE CYSTIC ADENOMATOID MALFORMATION OF THE LUNG: REVIEW OF THE LITERATURE AND CASE REPORT].

ABSTRACT OBJECTIVE: To present a case of macrocystic type cystic adenomatoid malformation of the lung (CCAM) treated with thoraco-amniotic shunt and to review the published data to evaluate the efficiency of thoraco-amniotic shunts for drainage of (CCAM). MATERIALS AND METHODS: This wass case reported of a fetus with a large thoracic cyst, major mediastinal shift and polyhidramnion treated with thoraco-amniotic shunting. We identified 8 cases diagnosed with CCAM and only one case met the criteria for fetal surgery. Thoracoamniotic shunting was successfully performed under local anesthesia and ultrasound control with operating time of 35 minutes. Medline was searched to identify cases of CCAM treated by thoraco-amniotic shunting. RESULTS: Fetal therapy forlung lesion was successfully performed at 30 weeks of gestation with CCAM volume ratio > 1.6 January, 2015 and amniodrenage after the procedure was carried out. The pregnancy has progressed uneventfully and planned Cesarean section was performed at 38 weeks of gestation. The optimal management of such case was performed for the first time in Bulgaria, which required an experienced interdisciplinary team. The newborn underwent resection of the lesion with no growth or neurodevelopment delay. The literature search identified cases with CCAM treated with thoraco-amniotic shunting between 1987 and 2016 and the the survival rate of non-hydropic fetuses that underwent treatment was 88%. CONCLUSIONS: Thoraco-amniotic shunting for macrocystic type CCAM is associated reduced risk of fetal intrauterine death and is also likely to be beneficial for the following major postnatal surgery

[Congenital cystic adenomatoid malformation of the lung, intrauterine diagnostic and treatment. A case report and literature review]. / Enfermedad adenomatoidea quística pulmonar, diagnóstico y manejo intrauterino. Reporte de un caso y revisión bibliográfica.

The use of prenatal ultrasonography has improve the detection of fetal abnormalities, which affects the perception about the natural history and evolution of them, changing the management of the fetus and neonate. Today, it is possible to perform an early prenatal diagnosis, and be treated even intrauterine with high rates of success. Such is the case of Congenital Cystic Adenomatoid Malformation (CCAM), characterized by abnormal proliferation and dilatation of the terminal structures of the airway, generating multiple cysts of diferent sizes and locations. The CCAM can be asymptomatic until adulthood, but sometimes it is presented as an adverse perinatal outcome, manifested with ascites, hydrothorax, hydrops and hypoplasia of the affected lung. We report a case of a pregnant women, 32-year-old, diagnosed on the 18 week pregnancy by ultrasound Type 3 Congenital Cystic Adenomatoid Malformation disease. Treated with an intrauterine intervention percutaneous fetal sclerotherapy successfully.

[Coexistence of pulmonary sequestration and congenital cystic adenomatoid malformation. Case report and review of literature]. / Wspólistnienie sekwestracji pluca i wrodzonej torbielowatosci gruczolakowatej pluc. Prezentacja przypadku klinicznego i przeglad pismiennictwa.

This paper presents a case report of an infant, with a prenatally diagnosed congenital lung malformation, which proved to be pulmonary sequestration and congenital cystic adenomatoid malformation. The authors discuss current knowledge on diagnosis, clinical course and suggestions of ante- and postnatal management of patients with pulmonary sequestration or/and congenital cystic lung malformation.

Antenatally Detected Thoracic Lesions: Prognosis, Management and Outcome.

BACKGROUND: Foetal thoracic lesions are uncommon, with the incidence of 1 in 15,000 live births. Antenatal monitoring of these lesions is required to prognosticate the parents about the postnatal outcome of the lesions and about the well-being of the baby. Foetal ultrasound and magnetic resonance imaging (MRI) are the modalities to detect these lesions and follow-up during pregnancy and postnatally. Congenital pulmonary adenomatoid malformations (CPAM), congenital diaphragmatic hernia (CDH) and bronchopulmonary sequestrations (BPS) are the commonly detected foetal thoracic lesions. Parameters such as congenital cystic adenomatoid malformation (CCAM) volume ratio (CVR) and lung-to-head ratio (LHR) determine the prognosis of these lesions. With this background, we planned to study the prognosis and outcome of antenatally detected thoracic lesions. MATERIALS AND METHODS: This was a prospective study carried out for 2 years (January 2017 to December 2018). Pregnant females with foetuses diagnosed to have thoracic lesions on the second- and third-trimester ultrasound and foetal MRI were enrolled for the study. CVR and LHR were noted. Outcomes were analysed in terms of the need of termination of pregnancy, foetal or neonatal demise and need of surgery or conservative management. RESULTS: Of a total of 521 pregnancies, thoracic lesions were detected in 22 (4.22%) cases. Individually, the incidence of each lesion was: CPAM-10 (45.45%), BPS-5 (22.73%), CDH-5 (22.73%) and congenital higher airway obstruction-2 (9.1%). Chromosomal screening was normal in 100% of cases. Follow-up was done for 2 years. Termination of pregnancy was required in 3 (13.64%) cases, postnatal death occurred in 4 (18.2%) cases, surgery was required in three cases of CDH soon after birth and two cases of extralobar BPS at 2 years of age. 10 (45.45%) cases were managed conservatively, who are doing well at 2-year follow-up. CONCLUSION: CPAMs, BPSs and CDH are the commonly detected antenatal thoracic lesions. Ultrasonography and MRI help detect and prognosticate the parents about the outcomes of these lesions. CVR and LHR with associated congenital malformations are important prognostic markers for these lesions. There is a need of long-term prospective studies to delineate the natural history of these lesions.

Congenital lung malformations.

Congenital lung malformations (CLMs) are rare developmental anomalies of the lung, including congenital pulmonary airway malformations (CPAM), bronchopulmonary sequestration, congenital lobar overinflation, bronchogenic cyst and isolated congenital bronchial atresia. CLMs occur in 4 out of 10,000 live births. Postnatal presentation ranges from an asymptomatic infant to respiratory failure. CLMs are typically diagnosed with antenatal ultrasonography and confirmed by chest CT angiography in the first few months of life. Although surgical treatment is the gold standard for symptomatic CLMs, a consensus on asymptomatic cases has not been reached. Resection, either thoracoscopically or through thoracotomy, minimizes the risk of local morbidity, including recurrent infections and pneumothorax, and avoids the risk of malignancies that have been associated with CPAM, bronchopulmonary sequestration and bronchogenic cyst. However, some surgeons suggest expectant management as the incidence of adverse outcomes, including malignancy, remains unknown. In either case, a planned follow-up and a proper transition to adult care are needed. The biological mechanisms through which some CLMs may trigger malignant transformation are under investigation. KRAS has already been confirmed to be somatically mutated in CPAM and other genetic susceptibilities linked to tumour development have been explored. By summarizing current progress in CLM diagnosis, management and molecular understanding we hope to highlight open questions that require urgent attention.

Selection of potential targets for stratifying congenital pulmonary airway malformation patients with molecular imaging: is MUC1 the one?

Currently there is a global lack of consensus about the best treatment for asymptomatic congenital pulmonary airway malformation (CPAM) patients. The somatic KRAS mutations commonly found in adult lung cancer combined with mucinous proliferations are sometimes found in CPAM. For this risk of developing malignancy, 70% of paediatric surgeons perform a resection for asymptomatic CPAM. In order to stratify these patients into high- and low-risk groups for developing malignancy, a minimally invasive diagnostic method is needed, for example targeted molecular imaging. A prerequisite for this technique is a cell membrane bound target. The aim of this study was to review the literature to identify potential targets for molecular imaging in CPAM patients and perform a first step to validate these findings.A systematic search was conducted to identify possible targets in CPAM and adenocarcinoma in situ (AIS) patients. The most interesting targets were evaluated with immunofluorescent staining in adjacent lung tissue, KRAS+ CPAM tissue and KRAS- CPAM tissue.In 185 included studies, 143 possible targets were described, of which 20 targets were upregulated and membrane-bound. Six of them were also upregulated in lung AIS tissue (CEACAM5, E-cadherin, EGFR, ERBB2, ITGA2 and MUC1) and as such of possible interest. Validating studies showed that MUC1 is a potential interesting target.This study provides an extensive overview of all known potential targets in CPAM that might identify those patients at risk for malignancy and conducted the first step towards validation, identifying MUC1 as the most promising target.

Antenatal and postnatal management of congenital cystic adenomatoid malformation.

Congenital thoracic malformations (CTMs) are a heterogeneous group of rare disorders that may involve the airways or lung parenchyma. The authors have focused on the condition that causes the most controversy, namely, congenital cystic adenomatoid malformation (CCAM). The reported incidence is 3.5 and 0.94 per 10,000 live births for CTMs and CCAMs respectively. Ultrasound is the antenatal imaging modality of choice for screening for CCAMs whilst magnetic resonance imaging is complimentary for morphological and volumetric evaluation of the foetal lung. Most CCAMs are detected antenatally with only a small proportion presenting postnatally. Only a few CCAMs cause foetal problems, with foetal hydrops being the best predictor of death. Although many CCAMs regress during pregnancy, most remain detectable postnatally by CT scans. Surgical excision of symptomatic lesions is relatively straightforward, but management of asymptomatic lesions is controversial. Some surgeons adopt a "wait and see" approach operating only on those patients who develop symptoms, but others operate on asymptomatic patients usually within the first year of life. Due to the potential of malignant transformation, children should have long term follow up. There is an urgent need to delineate the natural history of antenatally detected CCAMs to guide future management.

Congenital pulmonary airway malformation: a case report and review of the literature.

Congenital parenchymal lung malformations have an estimated incidence at 1:25,000-1:35,000 births. We present a case of this rare congenital abnormality in a 38 year-old male, review the current literature with discussion of proposed causes, malignant potential, and management strategies. A 38-year-old white male presented with a 4-day history of chronic stable hemoptysis. Social history was notable for a 50-pack-year active smoking history and remote heavy alcohol consumption. Physical examination was normal. Chest radiograph revealed an ill defined right lower lobe infiltrate. Chest computed tomography demonstrated an irregular, thin-walled, cystic lesion with adjacent nodularity and calcifications. The patient received a right lower lobectomy. Pathologic specimen demonstrated a 10-cm, mostly thin-walled cyst with features suggestive of a congenital cyst adenomatoid malformation and areas of adenocarcinoma (mixed subtype with acinar and bronchioloalveolar patterns). Congenital cyst adenomatoid malformations have recently been renamed as congenital pulmonary airway malformations and are the most common type of congenital parenchymal lung malformations. Individuals typically present with recurrent pulmonary infections, pneumothorax, or hemoptysis. The development is controversial but believed to be a result of arrested development of the fetal bronchial tree during the sixth and seventh week of fetal development. Defects in thyroid transcription factor 1 have also been proposed. With the increasing use and image resolution of ultrasound in modern obstetric practice, congenital pulmonary airway malformations rarely go undetected into adulthood. Management remains controversial; however, most authors agree with early surgical excision.

Management of the upper airway and congenital cystic lung diseases in neonates.

Congenital upper airway obstruction can pose difficult problems immediately after birth. Newer strategies to maintain the airway in such situations include pharyngeal ventilation, the laryngeal mask airway and flexible fibreoptic intubation. These methods have decreased the potential for malformations such as Pierre Robin sequence to cause perinatal hypoxia. The most devastating upper airway problem is total obstruction at the supraglottic, glottic or tracheal level without tracheo-oesophageal communication. This can usually be detected prenatally and its management may include the use of the EXIT (ex-utero intrapartum) procedure. Congenital space-occupying lesions of the lung can be detected prenatally with ultrasound. Their management must be individualised, as their pre- and postnatal development is difficult to predict. Very large lesions can lead to lung hypoplasia or fetal hydrops. Management may include prenatal surgery, shunting and, rarely, an EXIT procedure during birth. A few children may require extracorporeal membrane oxygenation postnatally.

Congenital lung lesions.

Diagnosis and management of congenital lung malformations has evolved dramatically over the past several decades. Advancement in imaging technology has enabled earlier, more definitive diagnoses and, consequently, more timely intervention in utero or after birth, when indicated. These advancements have increased overall survival rates to around 95% from historical rates of 60%. However, further refinement of diagnostic technique and standardization of treatment is needed, particularly as the increased sensitivity of diagnostic imaging results in more frequent diagnoses. In this article, we provide an updated review of the diagnostic strategies, management, and prognosis of congenital lung malformations.