Congenital Diaphragmatic Hernia

Abstract

Congenital Diaphragmatic Hernia (CDH) is defined by the presence of an orifice in the diaphragm, more often left and posterolateral that permits the herniation of abdominal contents into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects. CDH can be a component of Pallister-Killian, Fryns, Ghersoni-Baruch, WAGR, Denys-Drash, Brachman-De Lange, Donnai-Barrow or Wolf-Hirschhorn syndromes. Some chromosomal anomalies involve CDH as well. The incidence is < 5 in 10,000 live-births. The etiology is unknown although clinical, genetic and experimental evidence points to disturbances in the retinoid-signaling pathway during organogenesis. Antenatal diagnosis is often made and this allows prenatal management (open correction of the hernia in the past and reversible fetoscopic tracheal obstruction nowadays) that may be indicated in cases with severe lung hypoplasia and grim prognosis. Treatment after birth requires all the refinements of critical care including extracorporeal membrane oxygenation prior to surgical correction. The best hospital series report 80% survival but it remains around 50% in population-based studies. Chronic respiratory tract disease, neurodevelopmental problems, neurosensorial hearing loss and gastroesophageal reflux are common problems in survivors. Much more research on several aspects of this severe condition is warranted.

Comorbidity between Klinefelter syndrome and diaphragmatic hernia. A case report

“…1 We believe that the association observed in the present case was merely coincidental, since both conditions are relatively common. The frequency of diaphragmatic hernia has been postulated to be up to 5 in 10,000 births, and about half of the patients are male.…”

Endoscopic approach to diaphragmatic pathologies

“…Göğüs boşluğuna geçen organların o taraf akciğerine bası yaparak parankimin gelişmesine engel olduğu, bunun da akciğer hipoplazisi ile sonuçlandığı belirtilmiştir (1) . Akciğer hipoplazisinin aslında primer olay olduğu ve diyafram defektinin ise buna sekonder olarak geliştiği de ileri sürülür (9) . Akciğer hipoplazisine, karşı tarafta da rastlanılması bu görüşü desteklemektedir.…”

Congenital Diaphragmatic Hernia with Lung Hypoplasia – A Cause of Sudden Death in a Neonate

“…The newborn is placed on a ventilator (High frequency oscillatory inhalation of NO in pulmonary hypertension). Extracorporeal Membrane Oxygenation (ECMO) has been used as part of treatment strategy [9]. Surgical repair of the diaphragm is done thoracoscopically by a technique known as plication of the diaphragm [10].…”