Congenital Diaphragmatic Hernia



Congenital Diaphragmatic Hernia


Michael A. Lopez





  • Congenital diaphragmatic hernias (CDHs) occur in approximately 1 in every 2000 to 5000 live births.1


  • There are many forms of CDHs, named for the location of the defect, and each has different physiologic effects on the patient. The 2 most common are the following:



    • Bochdalek hernias


    • Morgagni hernias


  • Other less commons forms of CDH include anterior hernias associated with pentalogy of Cantrell (which includes defects in the supraumbilical midline abdominal wall, lower sternum, diaphragmatic pericardium, and heart) and central hernias (rare diaphragm defect involving the central tendinous [eg, amuscular] portion of the diaphragm) (Figure 36.1).2


  • The size of the hernia can range from only a few centimeters to involving most of the hemidiaphragm.


  • CDH is more frequently being diagnosed because of improved prenatal ultrasound monitoring.


  • Early diagnosis is crucial in the management of these patients because all have the potential to clinically deteriorate after birth.


  • Pulmonary hypoplasia and pulmonary hypertension are the clinical manifestations of CDH that cause significant morbidity and mortality.


  • Approximately 5% to 10% of patients with CDH will not present with symptoms in the neonatal period but rather present with respiratory distress or gastrointestinal distress later in infancy.2


EPIDEMIOLOGY AND ETIOLOGY



  • Etiology is not completely understood, but it is thought to be due to error in mesenchymal cell differentiation between the 4th and 10th weeks of gestation, when pleuroperitoneal folds usually develop.1




  • CDH can be associated with cardiac, gastrointestinal, and genitourinary anomalies or with chromosomal aneuploidy such as trisomies.



    • 10% of patients will also have chromosomal abnormalities (trisomy 18 or 13).


  • Environmental exposures and nutritional deficiencies have also been linked to the development of CDH.3



    • Evidence suggests that retinoic acid and vitamin A play an important role in the development of the human diaphragm.3


  • CDH is occasionally associated with syndromes such as Apert, Beckwith-Wiedemann, or colomba, heart anomaly, choanal atresia, retardation of growth, genitourinary issues, ear abnormalities.






Figure 36.1 Development of the diaphragm and congenital diaphragmatic hernia. A, Abdominal surface of the diaphragm and the derivation of the components during development. The pleuroperitoneal membranes, the septum transversum, and the esophageal mesentery form the diaphragm. A Bochdalek hernia forms when there is a posterolateral defect. Morgagni hernias are less common and are present anteriorly. B, Chest radiograph of a child with a congenital posterolateral (Bochdalek) diaphragmatic hernia on the left. The mediastinum is displaced to the right by the intestinal loops present in the left chest. IVC, Inferior vena cava (Reprinted with permission from Yamada T, Alpers DH, Kaplowitz N, et al. Textbook of Gastroenterology. 4th ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2003.)


Bochdalek Hernia



  • Bochdalek hernia is the most common form of CDH.


  • It is a posterolateral defect in the diaphragm (foramen of Bochdalek).


  • About 85% of these hernias occur on the left side, about 10% occur on the right, and approximately 5% are bilateral.


  • Almost all patients will have an intestinal nonrotation or malrotation because the bowel is stuck in the thoracic cavity; however, incidence of volvulus and intestinal atresia is low.


Morgagni Hernia



  • Morgagni hernia is an anterior retrosternal or parasternal defect in the diaphragm.


  • It is usually on the right side and can result in the herniation of liver or intestines into the chest cavity.


  • Small, asymptomatic Morgagni hernias can be observed if incidentally found later in life.


  • These hernias make up approximately 10% of all CDHs.2


  • Morgagni hernias are generally accompanied by a hernia sac.


  • They are less likely to cause devastating pulmonary derangements than Bochdalek hernias.




DIAGNOSIS


Prenatal Diagnosis and Care

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May 5, 2019 | Posted by in PEDIATRICS | Comments Off on Congenital Diaphragmatic Hernia

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