Diaphragmatic Hernia

Incidence

1.Congenital diaphragmatic hernia (CDH) refers to a

congenital defect in the posterolateral diaphragm at the
“foramen of Bochdalek.”
It is a relatively common cause of neonatal respiratory
distress with an overall incidence between 1:2000 and
1:5000 live births. CDH accounts for about 90% of
congenital diaphragmatic defects.
Eighty to ninety percent of congenital diaphragmatic
hernias occur on the left side. A hernia sac is only present
20% of the time.
2.Retrosternal hernias (Morgagni) are much less
common and only account for 2-6% of congenital
diaphragmatic defects. 3.Diaphragmatic eventration
is even rarer but is a postoperative complication in 1-2%
of children undergoing surgery to repair congenital heart
defects.
Etiology
The specific etiology of CDH is unknown but it is believed
to result from a defective formation of the
pleuroperitoneal membrane.
In the early weeks of development, the pleural and
peritoneal cavities communicate via the paired
pleuroperitoneal canals. During the 8th week, the pleural
cavity becomes separated
from the peritoneal cavity by the developing
pleuroperitoneal membrane.
If the pleuroperitoneal membrane fails to develop,
closure of the pleuroperitoneal canal is incomplete and a
posterolateral diaphragmatic defect results.
 A newer hypothesis has arisen from the nitrofen rat
model of CDH.
Electron microscopy of these nitrofen exposed rat
embryos suggests that CDH results from a defective
development of the
“posthepatic mesenchymal plate” which also contributes
to closure of the pleuroperitoneal canal.
Although familial cases are reported, most cases of CDH
are sporadic.
CDH is associated with trisomies 18, 21, and 23 but a
specific genetic etiology has yet to be identified.
Morgagni hernias result from failure of the sternal and
crural portions of the diaphragm to fuse at the site where
the superior epigastric artery traverses the diaphragm.
Morgagni hernias are associated with congenital heart
disease and trisomy
A variant of the retrosternal hernia is associated with the
pentalogy of Cantrell which includes: omphalocoele,
inferior sternal cleft, severe cardiac defects (including
ectopia cordis), diaphragmatic hernia and pericardial
defects.
The diaphragmatic defect results when the septum
transversum fails to develop in the embryo.
Eventration of the diaphragm may be either a congenital
or acquired lesion.
Neonatal eventration may be due to defective central
development or enervation of the diaphragm. It may also
result from a traction injury to the nerve roots of the
phrenic nerve during traumatic delivery. Eventration most
often results from iatrogenic phrenic nerve injury
complicating cardiac or mediastinal surgery.
Definitions
The diaphragm develops largely from three structures:
1 the pleuroperitoneal membrane;
2 the septum transversum;
3 the marginal ingrowths from the muscles of the body wall.
Congenital diaphragmatic hernia results from failure of formation or
fusion of the components of the diaphragm, such that abdominal
contents can move through a defect into the chest.
Sometimes, failure of muscularisation may produce a thin, weak
diaphragm, referred to as an eventration of the diaphragm.
The Bochdalek type is the most common variety of congenital
diaphragmatic hernia and results from a defect in the posterolateral
part of the diaphragm. During intra-uterine development, the small
bowel, stomach, spleen and left lobe of the liver pass through the
defect in the diaphragm into the chest, limiting the space available for
the developing lung. This causes lung hypoplasia, which in many
infants is severe enough to produce severe respiratory distress within
minutes of birth, and may not be compatible with life.
The Morgagni (retrosternal) type of diaphragmatic hernia is rare, and
results from a defect in the anterior midline, just behind the sternum
[Fig]. It usually contains part of the colon or small bowel, and less
commonly, part of the liver. Occasionally, a hernia may occur through
the apex of the cupola or at the periphery adjacent to the costal
margin.
Oesophageal hiatal hernias also occur and usually produce symptoms
of gastro-oesophageal refl ux.
Clinical features
Antenatal diagnosis
Most congenital diaphragmatic hernias are diagnosed well before
birth, on antenatal ultrasonography. Factors that may indicate a worse
prognosis on antenatal scanning (summarised in Table ) may influence
counselling of the parents-to-be. Antenatal ultrasonographic diagnosis
of diaphragmatic hernias also allows the mother-to-be to be
transferred to a tertiary paediatric surgical centre before birth.
Successful in utero correction of diaphragmatic hernia and fetoscopic
tracheal occlusion has been achieved in research setting, but the
techniques are complex and the indications are still being refi ned. To
date, they have not resulted in improved survival or reduced
morbidity compared with modern postnatal techniques.
Table . Possible antenatal markers of severity
� Early gestational age at diagnosis on ultrasonography
� Lung-to-head ratio (LHR) at 24–26-weeks’ gestation <1.0
� Small fetal lung volume on 3D ultrasonography and MRI
� >50% liver in chest on right side
� Liver in chest on left side
� Stomach and spleen in chest on left side
� No hernial ‘sac’ (diffi cult to confi rm on scanning)
Postnatal diagnosis
The majority of infants born with a Bochdalek (posterolateral)
diaphragmatic hernia become symptomatic at or shortly after birth.
Where pulmonary hypoplasia is severe, the infant becomes cyanosed
with severe respiratory distress within minutes of birth. In other
patients there is tachypnoea, increased respiratory effort, hyperinfl
ated chest and scaphoid abdomen, and heart sounds are on the right
side. This is because 85% of posterolateral hernias involve the left
hemidiaphragm. The remainder are rightsided (12%) or bilateral (3%).
Associated anomalies occur in up to 40%, but most are minor and do
not affect survival, for example, undescended testes. The most
common serious abnormalities are heart defects. Unlike
posterolateral hernias, most anterior (retrosternal) hernias are
symptomless unless strangulation occurs.
Very rarely the hernia may protrude into the pericardial cavity rather
than into the inferior mediastinum and cause cardiac tamponade,
presenting as cardiorespiratory distress in the neonatal period.
X-ray of congenital diaphragmatic hernia
(Bochdalek type). Multiple bowel loops fi ll the left pleural
cavity, and the heart is displaced to the right.

Investigation
Diagnosis of a posterolateral hernia is confi rmed by a chest x-ray [Fig.
5.2]. In left-sided defects, loops of bowel can be seen in the left chest.
The heart is deviated to the right. Little room is left for the lungs,
particularly the left lung which is markedly compressed. Sometimes,
the appearance may be diffi cult to distinguish from basal lung cysts,
in which case a repeat chest x-ray is performed after a nasogastric
tube has been inserted, the tip of which can be seen in the chest.
Alternatively, a barium study will show bowel within the thoracic
cavity when there is a diaphragmatic hernia.

Treatment
Posterolateral (Bochdalek) hernia
Where an antenatal ultrasound examination has identify ed a
diaphragmatic hernia, the best outcomes are achieved if the infant is
transferred to a tertiary paediatric surgical centre prior to birth. This is
because these infants may develop severe pulmonary distress very
quickly after birth, making subsequent transfer diffi cult and
potentially dangerous. Initial treatment involves intensive
cardiorespiratory support and insertion of a nasogastric tube to
prevent bowel dilatation within the chest. Care must be taken to avoid
hyperinfl ation and barotrauma of the small hypoplastic lungs. High-
frequency oscillatory ventilation in
combination with nitric oxide has improved survival rates. Ventilation
with a face mask (‘bagging’) should be avoided as this may force air
into the stomach, increasing its volume at the expense of the already
compromised lungs. Vigorous endotracheal ventilation should also be
avoided because of the risk of causing barotrauma and a tension
pneumothorax, which can lead to the rapid demise of the infant.
Exogenous surfactant provides no specifi c benefi t in newborns with
diaphragmatic hernia. The key to success is careful gentle ventilation
that minimizes injury to the hypoplastic lungs. Sudden deterioration
of the infant’s condition during
initial resuscitation or during transport suggests the development of a
tension pneumothorax, and this may necessitate prompt drainage by
needle aspiration or insertion of an intercostal drain. Fortunately,
strict avoidance of hyperventilation and limited infl ation pressures
have
made this complication rare.n Surgery to return the bowel to the
abdominal cavity and to repair the defect in the diaphragm is
performed when the infant’s condition is stable. This may be
anywhere between 12 h and 7 or more days after birth. In left-sided
defects, a left transverse or subcostal abdominal incision is used. The
management of the infant with severe hypoplastic lungs is diffi cult
and may involve highfrequency oscillation or extracorporeal
membrane oxygenation. The major cause of death remains pulmonary
hypoplasia and pulmonary hypertension. Pulmonary hypertension is
due to the small pulmonary vascular bed and to the changing
resistance of the pulmonary arterioles: it resolves in most patients
with time, provided ventilation does not produce additional lung
injury. Survival rates of about 80% are now being reported.
 Diagram of the diaphragm and its attachment to the sternum,
showing the site of an anterior diaphragmatic hernia.

Anterior diaphragmatic hernia

Anterior diaphragmatic (Morgagni) hernias are often diagnosed on an
incidental x-ray of the chest in a symptomless patient, but repair is still
advisable because of the risk of strangulation of the bowel that
protrudes through the defect. This is usually performed as a
laparoscopic procedure [Fig. 5.3]. The results are excellent.

Key Points
  Diaphragmatic hernia is diagnosed antenatally or by chest x-ray
in a baby with a barrel chest,scaphoid abdomen and respiratory
distress.
 Ventilatory support, especially during transport, should be the
minimum required to prevent deterioration, as hyperinfl ation
with 2_ barotraumas is a signifi cant complication.
 Sudden deterioration is usually caused by tension
pneumothorax.
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Case 1
Within minutes of birth, a full-term infant boy develops increasing
respiratory distress and becomes cyanosed. He fails to improve with
upper airway suctioning. The pregnancy was uneventful. He looks
barrel-chested and his abdomen is scaphoid.
Q 1.1 What is the diagnosis?
Q 1.2 What investigation will confi rm the diagnosis?
Q 1.3 What factors determine the outcome in these situations?

Case 2
A newborn infant with a recently diagnosed left-sided congenital
diaphragmatic hernia is about to be transferred to a paediatric surgical
institution by air. He is currently being ventilated through an
endotracheal tube and just maintaining adequate blood gas levels.
Q 2.1 Should his ventilation be increased during transport?
Q 2.2 Should any other manoeuvre be performed to reduce the
likelihood of problems during transport?
Q 2.3 If he suddenly deteriorates, what complication may have
happened?

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