Prenatally diagnosed fetal lung lesions with associated conotruncal heart defects: is there a genetic association?

Research paper by Margaret R MR Hüsler, R Douglas RD Wilson, Jack J Rychik, Michael W MW Bebbington, Mark P MP Johnson, Stephanie E SE Mann, Holly L HL Hedrick, Scott S Adzick

Indexed on: 06 Sep '07Published on: 06 Sep '07Published in: Prenatal Diagnosis


Congenital lung malformation can easily be diagnosed by prenatal ultrasound. Associated extrapulmonary malformations such as heart defects and chromosomal aberrations are rare.The objective of this study was to describe the natural history, outcome and other associated malformations in fetuses with lung lesions and an associated heart defect.Retrospective analysis of 4 cases of prenatally diagnosed fetal CCAMs and hybrid lesions with an associated heart defect and review of 8 cases in the literature.At a single referral center 1.9% of the fetuses with Congenital cystic adenomatoid malformation (CCAM) were diagnosed with an associated heart defect. Seven of the total 12 cases (58%) reviewed had a conotruncal heart abnormality. Chromosomal abnormalities were found in 5 (42%) of the cases.This retrospective review shows that karyotyping in fetal lung lesions with an associated heart defect or isolated large lung lesions is indicated. It also suggests that there is a subpopulation of fetuses with CCAMs who have conotruncal heart defects. This finding may suggest a common genetic background.