Congenital diaphragmatic hernia

The diaphragm is a musculotendinous structure that separates the

organs in the abdominal cavity from those in the chest.

It is composed of a central tendon surrounded by a muscular rim in

addition to the right and left diaphragmatic crura.
types of diaphragmatic hernia
• Bochdalek hernia: The most common type of congenital
diaphragmatic hernia is a posterolateral (Bochdalek hernia) hernia
• Morgagni’s hernia: occurs posterior to the sternum and results from
failure of sternal and costal fibers to fuse
• Hiatal hernia: The hiatus hernia occurs through the esophageal hiatus
and is divided into three types :Sliding ◦ Rolling ◦ Mixed sliding and
rolling
• Central tendon hernia: This hernia is a rare diaphragm defect
involving the central tendinous portion of the diaphragm.
• Anterolateral hernia: Occurs anterolaterally through a defect in the
muscular part of the diaphragm.
• Eventration of diaphragm: There is incomplete mascularization of the
diaphragm. This leads to elevation of a portion or all of the intact
diaphragm that is thinned.
• Iatrogenic diaphragmatic hernia: Occurs as a result of diaphragmatic
injury during surgery.
• Traumatic diaphragmatic hernia: Occurs following penetrating and
blunt abdominal and thoracic trauma.
• occurs in 1 of every 2500–5000 live births.
• occurs equally in males and females.
• Most congenital diaphragmatic hernias occur posterolaterally through
the foramen of Bochdaleck.
• 85 % occur on the left side and 15 % occur on the right side.
• Bilateral hernias are uncommon and are usually fatal.
• A hernia sac is present in 10–20 % of congenital diaphragmatic
hernias.
• 10 % of patients may present after the newborn period and even
during adulthood
• pulmonary hypertension and pulmonary hypoplasia have been
recognized as the two cornerstones of the pathophysiology of
congenital diaphragmatic hernia.
Embryology
• The diaphragm is derived from four embryonic structures:
• − The septum transversum
• − The pleuroperitoneal membranes
• − The mesoderm of the body wall
• − The esophageal mesenchyme
• At around 4–5 weeks’ gestation, the septum transversum forms like a
semicircular shelf, which separates the heart from the liver.
• At around the fifth week of gestation, the pleuroperitoneal
membranes develop along a line connecting the root of the 12th rib
with the tips of the 7th to 12th ribs.
• The pleuroperitoneal membranes then grow ventrally and fuse with
the septum transversum and the dorsal mesentery of the esophagus
• At 6–7 weeks’ gestation, the pleuroperitoneal canals close; the left
side closes after the right.
• The left and right crura of the diaphragm develop from the mesentery
of the esophagus.
• The mesoderm of the body wall forms the outer rim of diaphragmatic
muscle.
• The posterolateral diaphragmatic hernia results from failure of closure
of the pleuroperitoneal canals.
• Some intestines and other viscera enter the thorax through this defect
and lead to compression of the developing lung at the
pseudoglandular stage of lung development. This occurs around the
tenth week of gestation
pathophysiology

1 、 Hypoplasia of the lung

Pulmonary weight (ipsilateral+contralateral)↓
Alveoli number↓
Hypertrophy of the media of pulmonary arteriole
Resistance of the vessels↑
2 、 Pulmonary hypertension
• Abdominal viscera into the thoracic cavity → compression of the lung,
PaO2↓PaCO2↑→ acidosis, hypoxemia （ PH<7.30 ）→ pulmonary
vessels spasm →vessel resistance↑, right to left shunting through
patent ductus arteries and foramen ovale↑→aggravate acidosis and
hypoxemia in the body circulation (fetal circulation syndrome)
• Infants with congenital diaphragmatic hernias also have impairment
of the pulmonary antioxidant enzyme system

• defective development of the surfactant system of the lung.

• In very severe cases, left ventricular hypoplasia may develop.

Clinical Features
• The presentation is commonly with respiratory distress and cyanosis
in the first minutes or hours of life, although a later presentation is
possible.
• Clinically, infants with congenital diaphragmatic hernia have:
• − A scaphoid abdomen
• − A barrel-shaped chest
• − Signs of respiratory distress (retractions, cyanosis, grunting
respirations)
• − Poor air entry on the affected side, with a shift of cardiac sounds
• Patients may present outside of the neonatal period with:

• − Respiratory symptoms

• − Intestinal obstruction

• − Bowel ischemia and necrosis following volvulus

Associated Anomalies
• 10–50 % have Associated Anomalies
• cardiac anomalies is high (approximately 25 %).
• Genitourinary anomalies occur in 6–8 %
• Chromosome abnormalities occur in as many as 30 % including:
• − Trisomy 13, Trisomy 18, Trisomy 21, and Turner syndrome
• − Chromosome deletions on chromosomes 1q, 8p, and 15q
Diagnosis and Management
• antenatal ultrasound in 46–97 % reveals:
• − Polyhydramnios
• − An absent intra-abdominal gastric air bubble
• − Mediastinal shift
• − Hydrops fetalis
• these patients should be referred to a tertiary care center where they
can be managed appropriately.
• If the diagnosis is known at the time of delivery, bag-and-mask
ventilation in the delivery room should be avoided.
• All infants with severe congenital diaphragmatic hernia who present
in the first few hours of life should be intubated and ventilated.
• A nasogastric or an orogastric tube should be placed as soon as
possible
• Secure an arterial line in the umbilical artery or in a peripheral artery
• Urinary catheterization to monitor urine output
• Place an umbilical vein catheter to allow for administration of
inotropic agents and hypertonic solutions
• A chest radiograph
• Chromosomal studies
• An echocardiography should always be performed prior to surgical
repair
• High-frequency ventilation for infants with hypercarbia and
hypoxemia resistant to conventional ventilation or requiring high PIP
• Exogenous surfactant
• Inhaled nitric oxide
• Venoarterial or venovenous extracorporeal membrane oxygenation
(ECMO) is available at few centers and commonly used for severely
affected infants.
• Fetal surgery: endoscopic occlusion of the fetal trachea

• Congenital diaphragmatic hernia is no longer a surgical emergency.

• The ideal time to repair a congenital diaphragmatic hernia is not well

established but repair 24 h after stabilization is ideal.
• Surgical Repair
• • A subcostal incision is used.
• • The hernial contents are reduced.
• • A hernia sac if present is excised.
• • The leaves of the diaphragm are dissected.
• • Primary repair is done in a single layer using nonabsorbable sutures.
• • If the diaphragmatic defect is large to preclude primary closure, a
prosthetic patch, or rotational muscle flaps can be used.
• Malrotation is corrected and Ladd bands are lysed.
• Complications in the early postoperative period include:
• • Recurrent pulmonary hypertension and deterioration in respiratory
mechanics and gaseous exchange.
• • Recurrent congenital diaphragmatic hernia. This is more common if
a patch is used to repair the hernia
• • Leakage of peritoneal fluid and blood into the thorax.
• • Development of an ipsilateral hydrothorax or chylothorax.
• • Small-bowel obstruction may occur secondary to adhesions or
volvulus.
• The overall reported survival rates of congenital diaphragmatic hernia
range from 40 to 90 % with an average of 52 %.
Eventration of the Diaphragm
• Eventration of the diaphragm is a disorder in which all or part of the
diaphragmatic muscle is replaced by fibroelastic tissue

• leads to an abnormal elevation of one leaf of an intact diaphragm as a

result of:
• − Congenital aplasia or maldevelopment of the diaphragm

• − Paralysis of the phrenic nerve

• It is more common in males than in females
• It is more likely to affect the left hemidiaphragm
• Congenital eventration of the diaphragm is commonly an isolated
condition
• Sometimes it is associated with other developmental defects such as:
• − Cleft palate
• − Congenital heart disease
• − Situs inversus
• − Undescended testicle
Classification
• • Congenital eventration results from:
• − Inadequate development of the muscle of diaphragm
• − Absence of the phrenic nerves
• The most common cause of acquired eventration is injury to the
phrenic nerve, resulting from:
• − Traumatic birth leading to injury of phrenic nerve
• − Thoracic surgery for congenital heart disease
• − Rarely, tumors of the chest
• − Obstetric injury may be combined with lesion of brachial plexus
leading to a paralysis of the Erb–Duchenne type.
Pathophysiology
• − Inability to properly ventilate the ipsilateral lung
• − Direct compression of the ipsilateral lung
• − Pneumonia due to chronic atelectasis
• − Paradoxical motion of the diaphragm making ventilation of the
contralateral lung inefficient
Clinical Features
• asymptomatic in early life and presents later with respiratory and
occasionally gastrointestinal complications.

• The respiratory complications are more in children compared to

adults.

• Recurrent chest infections are the commonest presenting complaint

Diagnosis
• posteroanterior and lateral chest films
• The affected hemidiaphragm should be at least two intercostal spaces
higher than the other side.
• Fluoroscopy is considered the most reliable way to document
diaphragmatic paralysis. Paradoxical movement of the affected
diaphragm is seen during screening
• Ultrasonography can help in establishing the diagnosis of partial
eventration and in distinguishing it from diaphragmatic nerve
interruption
Treatment
• Conservative treatment for asymptomatic patients
• • Indications for surgery:
• − Two or more recurrent ipsilateral pneumonias
• − One life-threatening pneumonia
• − Inability to wean the patient from mechanical ventilation
• − Respiratory distress related to paradoxical motion of the diaphragm

• diaphragmatic plication
Morgagni’s Hernia
• This rare anterior defect of the diaphragm is variably referred to as
Morgagni’s, retrosternal, or parasternal hernia
• The majority of Morgagni’s hernias occur on the right side because
the left side is protected by the heart and pericardium
• Morgagni’s hernia can be bilateral

• Slightly more common in females

• The most commonly herniated viscera are the colon (70–80 %), liver
(3– 5 %), small intestines (2–5 %), stomach (2–5 %), omentum (10–12
%), and spleen.
Presentation
• Most Morgagni’s hernias present later in life and are generally
asymptomatic discovered accidentally or during the evaluation of
other nonrelated conditions.
• Rarely present in the newborn period with respiratory distress at birth
• recurrent chest infections and nonspecific gastrointestinal symptoms
• cough, dyspnea, and upper abdominal discomfort, fullness, bloating
and vomiting
Associated Anomalies
• Congenital heart disease which is reported in up to 80 % of patients
• Down’s syndrome (14–35 %).
• Malrotation in up to 30 % of patients.
Diagnosis
• chest radiography
• barium enema or barium meal and follow-through
• A lateral film should be obtained always to confirm the anterior
location of the herniated intestines
• CT or MRI
Management
• The treatment of Morgagni’s hernia is operative repair even in
asymptomatic patients.