Rare Lung Diseases: Congenital Malformations

Abstract

Increasingly, congenital thoracic malformations (CTMs) are diagnosed on antenatal ultrasound, but we lack the evidence to suggest rational management, not least because descriptive terms are used inconsistently. This review describes a simplified clinical classification of CTMs, and contrasts it with pathological descriptions. The age related presentations of CTM are described, together with the differential diagnoses of cystic masses presenting both antenatally and postnatally. Antenatally diagnosed CTMs rarely require intervention before birth; and urgent treatment is only required postnatally if the baby is symptomatic and does not respond to medical management. The asymptomatic baby with an antenatal diagnosis of a CTM presents a management conundrum. Definitive imaging is with high-resolution computed tomography (HRCT), but the optimal timing of imaging is unclear. Whether surgery should be offered to asymptomatic infants is also unclear; in the medium term, 5 % of asymptomatic babies will require surgery for complications of the disease. The most vexed question is malignant change; the risk in the medium term is probably less than 5 %, but we have no way of delineating a high-risk group. Indeed, malignancy has been described even after complete resection of a CTM. The author's personal management is to advocate surgery in the second year of life for all except for the most trivial CTMs, but many would differ and advocate conservative management. More data are needed if we are to rationalise our approach to these infants.

Clinical cardiac assessment in newborns with prenatally diagnosed intrathoracic masses

“…We can confirm this high prevalence of left CHD, but without the influence of the laterality of the malformation. CCAM usually occurs as a sporadic nonhereditary disease, rarely accompanied by other anomalies, predominantly renal anomalies/tumors, VSD (10%) [ 8 ], conotruncal CHD (1.9%) [ 29 ], and ECG abnormalities, attributable to associated autosomal chromosome trisomies or 17p deletion syndromes (Hornstein-Birt-Hogg-Dubé or Smith-Magenis syndrome) [ 7 , 12 , 29 , 30 ]. Candidate genes like HOXB5 located in chromosome 17p11.2 and FGF7 located in chromosome 15, actuating transcription factors and growth factors, seem to be involved in this disrupted epithelio-mesenchymal crosstalk [ 29 ].…”

“…Multiple malformations can occur in the same patient implicating a common embryopathogenesis (pulmonary sequestration associated with CDH, CCAM, and lung lobe anomalies, or eventratio and enterogenous cysts) [ 5 – 12 ]. The normal lung development proceeds simultaneously by the interaction of bronchial, arterial, venous, and lymphatic tree.…”

Congenital Lung Malformations: Unresolved Issues and Unanswered Questions

“…In type 3 CPAM (the bronchiolar/alveolar type) the lesion is solid, and not cystic, because of the excess of bronchiolar structure separated by airspaces that resemble late fetal lung, while type 4 CPAM (the peripheral type) is characterized by peripheral thin-walled, often multiloculated cysts (2, 5, 8). However, the utility of classifications is different depending on whether obstetricians, pediatricians, radiologists, pathologists, or surgeons assess a CTM (1, 25–27). Although pathological classifications can be established only through histological examination, there is a great need to develop a uniform phenotypic description, particularly because pathological features of more than one lesion may be present in the same case and many diagnoses based on imaging have to be revised after pathological evaluation (2), hence the logic of the use of the umbrella term CTM.…”

Editorial: Old Problems and New Solutions in Pediatric Pulmonology

“…The series on pediatric pulmonology continues in this issue of the Journal, with four manuscripts that illustrate the new problems of our burgeoning speciality [1][2][3][4]. These are how the management of old problems (in this case TB) is being transformed by cutting edge science [1]; how the application of new technologies are creating challenging problems (congenital lung disease) [2]; and how new technologies are transforming the lives of children (neuromuscular disease and NIV) and taking mechanical ventilation, what used to be the prerogative of intensive care into the home, transforming the prognosis of children [3,4].…”

“…These are how the management of old problems (in this case TB) is being transformed by cutting edge science [1]; how the application of new technologies are creating challenging problems (congenital lung disease) [2]; and how new technologies are transforming the lives of children (neuromuscular disease and NIV) and taking mechanical ventilation, what used to be the prerogative of intensive care into the home, transforming the prognosis of children [3,4]. However, as we shall see, the more the speciality advances, the more the basic truths we learned as students remain the bedrock of our practice.…”