Genetics of Congenital Diaphragmatic Hernia

In about 80-85% of CDH the hernia is on the left side, in 10-15% on the right side and in 5% bilaterally (Dott et al., 2003). Most diaphragmatic defects involve the posterior and lateral aspects of the diaphragm, such as the posterolateral or Bochdalek CDH (80-90%), often accompanied by herniation of the stomach, intestines, liver and spleen into the chest (Torfs et al., 1992). In cases of aplasia or agenesis of the diaphragm, CDH is summarized under the large Bochdalek defects (Baglaj et al., 1999). In about 5%, the defect is in other locations affecting e.g. the anterior retrosternal or parasternal diaphragm, referred to as the Morgagni-Larrey hernia. In these cases, there can be hernation of liver or intestines into the chest cavity. Other anterior hernias are associated with Cantrell’s Pentalogy including defects of the supraumbilical midline abdominal wall, the lower sternum, the diaphragmatic pericardium and there may be ectopia cordis. Central hernias affect the tendinous portion of the diaphragm.