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Associated Anomalies in Congenital Lung Abnormalities: a 20-Year Experience
Lung malformations are often associated with congenital anomalies in other body districts. The following study analyses the incidence of extrapulmonary involvement in a group of patients born with lung malformations and underlines the importance of investigating the main organ systems. To date, in fact, there is no shared screening system, especially in the neonatal period, on the management of these malformations; it is therefore desirable to create soon a shared protocol.
We report a retrospective study published in 2020 and conducted at Sophia Children's Hospital in Rotterdam about a cohort of 196 patients born with a diagnosis of pulmonary malformation obtained after chest CT scan or postoperative histopathological examination. The following pictures were found (in order of decreased frequency): CPAM, bronchopulmonary sequestration, congenital lobar emphysema, bronchogenic cyst and pulmonary agenesis. The time period included 20 years of experience, from January 1999 to January 2019. The incidence of extra-pulmonary anomalies was 14% (28 patients), which is slightly higher than the European average of 11.7%. The most affected districts were the cardiovascular system (32%) and the gastrointestinal system (18%). The most prevalent type of lung malformation was pulmonary agenesis (100%), followed by bronchogenic cysts (29%). The article points out that the etiology of lung malformations remains poorly understood, as no specific genes linked to respiratory malformations have not been identified yet. In the cohort patients, the main genetic abnormalities were found in the X chromosome (1.5%); in addition to a known genetic association, i.e. the FLNA gene mutation, in a patient with congenital lobar emphysema, a new association between chromosomal abnormalities and lung malformations was reported, i.e. the association between trisomy X and pulmonary agenesis. Imaging alterations (echocardiography, radiography of the chest and of the abdomen) were found in 9 out of 28 patients (32%). While waiting for a shared use of radiological and ultrasonographic investigations to be performed in newborns with pulmonary malformations, the data from this retrospective study strongly support the decision to proceed with further instrumental investigations in this category of patients to exclude signs of associated major extra-pulmonary anomalies.
Reference
Hermelijn SM, Zwartjes RR, Tiddens HAWM et al. Associated Anomalies in Congenital Lung Abnormalities: A 20-Year Experience. Neonatology. 2020;117(6):697-703.
Doi: 10.1159/000509426.
