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Understanding and Treating Congenital Diaphragmatic Hernia

ts may be associated with primary lung defects. They note that other genes that are predicted to interact with Fog2, COUP-TFII and Gata4, are also necessary for diaphragm, cardiac, and lung development. Other mouse models of mutations linked to anterior or central diaphragm defects are also discussed, in particular the Slit genes, but a genetic association between Slit mutations and human diaphragm defects has not yet been found. The authors conclude: Since humans with CDH often have lung, cardiac, and other defects, the discovery of genetic pathways controlling development independently in the thoracic and upper abdominal regions of the embryo or fetus will result in a better understanding of the disease.

The connection between CDH and cardiovascular malformations (CVMs) is the subject of another paper led by Angela E. Lin of Harvard Medical School and MassGeneral Hospital for Children in Boston, MA. The authors found that the frequency of CVMs co-occurring with CDH ranged from 10-50% depending on inclusion or exclusion of cases with genetic syndromes. Furthermore, they note that the most common types of CVMs were proportional to the frequency found in the general population. The combination of CVM and CDH results in a poorer prognosis than would be expected with either malformation alone. However, the impact on these survival data from patients with a malformation syndrome or other genetic etiology has not been consistently evaluated, and we encourage researchers to re-analyze existing series and ensure that future studies distinguish CDH which is isolated from that which is associated with other malformations, especially as part of genetic syndromes, the authors state. In addition, they suggest that left ventricular hypoplasia, commonly seen in prenatally diagnosed cases with CDH (in which the enlarged right ventricle compresses the left ventricle) is often reversible, unlike true hypoplasia in which the heart is underdeveloped. Accordingly, the d
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