Congenital diaphragmatic hernia (CDH) is a rare birth defect that occurs when incomplete formation of the diaphragm allows abdominal organs to protrude into the chest, impairing lung development. It typically causes respiratory distress shortly after birth. Diaphragmatic defects may occur in the left posterolateral or anterior portion of the diaphragm, known as Bochdalek and Morgagni hernias, respectively. Bochdalek hernia are the most common type and are generally more severe. The cause of CDH is unknown.
CDH is a life-threatening condition in infants and a major cause of death due to two complications: pulmonary hypoplasia and pulmonary hypertension. Experts disagree on the relative importance of these two factors, with some focusing on hypoplasia, others on hypertension. Newborns with CDH often have severe respiratory distress which can be life-threatening unless treated appropriately.
The Bochdalek hernia, also known as a posterolateral diaphragmatic hernia, is the most common manifestation of CDH, accounting for more than 95% of cases. In this instance the diaphragm abnormality is characterized by a hole in the posterolateral corner of the diaphragm which allows passage of the abdominal viscera into the chest cavity. The majority of Bochdalek hernias (80âÂÂ85%) occur on the left side of the diaphragm, a large proportion of the remaining cases occur on the right side. To date, it carries a high mortality rate and is an active area of clinical research.
This rare anterior defect of the diaphragm is variably referred to as a Morgagni, retrosternal, or parasternal hernia. Accounting for approximately 2% of all CDH cases, it is characterized by herniation through the foramina of Morgagni which are located adjacent and posterior to the xiphoid process of the sternum.
Other congenital diaphragmatic anomalies include hiatal hernia and diaphragmatic eventration, though in these conditions the diaphragm remains intact.
Congenital diaphragmatic hernia results from incomplete formation of the diaphragm during gestation. The diaphragm develops from multiple embryologic components that normally fuse to separate the thoracic and abdominal cavities. Failure of this fusion, most commonly involving the pleuroperitoneal membranes, leaves a persistent defect. Through this defect, abdominal organs such as the stomach, intestines, spleen, and sometimes the liver can enter the chest. The herniated organs occupy space needed for normal lung growth. As a result, the lungs remain underdeveloped, a condition known as pulmonary hypoplasia. This underdevelopment includes reduced branching of the airways, fewer alveoli, and diminished surface area for gas exchange. In affected lungs, the pulmonary vasculature is also abnormal, with fewer vessels and thickened arterial walls.
The underlying cause of congenital diaphragmatic hernia is unknown. The majority of cases occur sporadically, with no identifiable familial link.
This condition can often be diagnosed before birth and fetal intervention can sometimes help, depending on the severity of the condition. Infants born with diaphragmatic hernia experience respiratory failure due to both pulmonary hypertension and pulmonary hypoplasia. The first condition is a restriction of blood flow through the lungs thought to be caused by defects in the lung. Pulmonary hypoplasia or decreased lung volume is directly related to the abdominal organs presence in the chest cavity which causes the lungs to be severely undersized, especially on the side of the hernia.
Survival rates for infants with this condition vary, but have generally been increasing through advances in neonatal medicine. Work has been done to correlate survival rates to ultrasound measurements of the lung volume as compared to the baby's head circumference. This figure known as the lung-to-head ratio (LHR). Still, LHR remains an inconsistent measure of survival. Outcomes of CDH are largely dependent on the severity of the defect and the appropriate timing of treatment.
A small percentage of cases go unrecognized into adulthood.
The first step in management is orogastric tube placement and securing the airway (intubation). Ideally, the baby will never take a breath, to avoid air going into the intestines and compressing the lungs and heart. The baby will then be immediately placed on a ventilator. Extracorporeal membrane oxygenation (ECMO) has been used as part of the treatment strategy at some hospitals. ECMO acts as a heart-lung bypass.
Diaphragm eventration is typically repaired thoracoscopically, by a technique called plication of the diaphragm. Plication basically involves a folding of the eventrated diaphragm which is then sutured in order to "take up the slack" of the excess diaphragm tissue.
In the modern era, congenital diaphragmatic hernia has a survival rate of approximately 60-70%, with some tertiary care centers reporting a survival rate of up to 92%. Individual rates vary greatly dependent upon multiple factors: size of hernia, organs involved, additional birth defects and/or genetic problems, amount of lung growth, age and size at birth, type of treatments, timing of treatments, complications (such as infections) and lack of lung function.