2. History
• In 1946, Gross reported the first successful repair of a
neonatal diaphragmatic hernia in the first 24 hours of life.
• for the next decade addressed congenital diaphragmatic
hernia as a surgical problem and discussed various technical
aspects of surgical repair, including techniques required to
close large defects
• In the 1960s, however, Areechon and Reid observed that the
high mortality rate of congenital diaphragmatic hernia was
related to the degree ofpulmonary hypoplasia at birth.[
3. • Over the past 20 years, pulmonary hypertension and
pulmonary hypoplasia have been recognized as the 2
cornerstones of the pathophysiology of congenital
diaphragmatic hernia.
• recent years, evidence suggests that cardiac maldevelopment
may further complicate the pathophysiology of congenital
diaphragmatic hernia.
4. Pathophysiology
3 basic types of congenital diaphragmatic hernia
– posterolateral Bochdalek hernia (occurring at approximately 6 weeks'
gestation)
– anterior Morgagni hernia
– hiatus hernia
• right-sided hernias (13% of cases), only the liver and a
portion of the large bowel tend to herniate.
• Left-sided hernias allow herniation of both the small and
large bowel and intraabdominal solid organs into the thoracic
cavity
• Bilateral hernias are uncommon and are usually fatal
5. • Congenital diaphragmatic hernia is characterized by a variable
degree of pulmonary hypoplasia associated with a decrease in
cross-sectional area of the pulmonary vasculature and
alterations of the surfactant system
• lungs have a small alveolar capillary membrane for gas
exchange, which may be further decreased by surfactant
dysfunction
• parenchymal disease, increased muscularization of the
intraacinar pulmonary arteries appears to occur.
• very severe cases, left ventricular hypoplasia is observed.
• Pulmonary capillary blood flow is decreased because of the
small cross-sectional area of the pulmonary vascular bed
• flow may be further decreased by abnormal pulmonary
vasoconstriction.
6. Epidemiology
• occurs in 1 of every 2000-3000 live births and accounts for 8%
of all major congenital anomalies.
• risk of recurrence of isolated (ie, nonsyndromic) congenital
diaphragmatic hernia in future siblings is approximately 2%.
• Familial congenital diaphragmatic hernia is rare (< 2% of all
cases), and both autosomal recessive and autosomal
dominant patterns of inheritance have been reported.
• a recognized finding in Cornelia de Lange syndrome
• occurs as a prominent feature of Fryns syndrome, an
autosomal recessive disorder with variable features, including
diaphragmatic hernia, cleft lip or palate, and distal digital
hypoplasia
7. Mortality/Morbidity
• "hidden mortality" for this condition, which refers to infants
with congenital diaphragmatic hernia who die in utero or
shortly after birth, prior to transfer to a surgical site
• population-based study from Western Australia indicated that
only 61% of infants with congenital diaphragmatic hernia are
live born
– nearly 33% of pregnancies that involved a fetus with congenital
diaphragmatic hernia were electively terminated
– most of the pregnancies (71%) were terminated because of the
presence of another major anomaly
Mortality after live birth is generally reported to range from 40-62%,
presence of associated anomalies has consistently been associated
with decreased survival; other associations with poor outcome include
prenatal diagnosis, prematurity, low birth weight, and
earlypneumothorax
8. • Keller et al found that infants with congenital diaphragmatic
hernia who have poor outcomes (death or discharge on
oxygen)
– have higher plasma levels of endothelin-1, which is dysregulated in
pulmonary hypertension.[6]
– Severity of pulmonary hypertension was also associated with
increasing endothelin-1 levels.
Most studies report that congenital diaphragmatic hernia occurs
equally in males and females.
usually a disorder of the newborn period, as many as 10% of patients
may present after the newborn period and even during adulthood
Outcome in patients with late presentation of congenital
diaphragmatic hernia is extremely good, with low or no mortality.
9. Clinical Presentation
Causes
• diaphragm initially develops as a septum between the heart
and liver, progresses posterolaterally, and closes at the left
Bochdalek foramen at approximately 8-10 weeks' gestation
• herniation of viscera in severe congenital diaphragmatic
hernia is believed to occur during the pseudoglandular stage
of lung development.
• Lung compression results in pulmonary hypoplasia that is
most severe on the ipsilateral side, although both lungs may
be abnormal
• Pulmonary hypoplasia is associated with fewer bronchial
generations, alveoli, and arterial generations.
10. • diaphragmatic defect occurs in the initial stages of diaphragm
development, rather than in the later stages.
• Fetal exposure to nitrofen causes a variable amount of lung
hypoplasia.
• in which 2 insults (one primarily affecting the lungs and
another primarily affecting diaphragm development)
contribute to the pathophysiology of congenital
diaphragmatic hernia.
• Congenital diaphragmatic hernia may occur as a
nonsyndromic or isolated defect.
– Less than 2% of such cases are estimated to be familial.
– Pedigrees consistent with autosomal recessive, autosomal
dominant, and X-linked inheritance patterns have been described.
– More than 10% of infants with congenital diaphragmatic hernia have
an underlying syndromic diagnosis
11. • 30% of infants with congenital diaphragmatic hernia, which
has been described as part of trisomy 13, trisomy 18, trisomy
21, and Turner syndrome (monosomy X). Pallister-Killian
syndrome (tetrasomy 12p mosaicism) presents with findings
that are similar to those of Fryns syndrome, including coarse
facial features, aortic stenosis, cardiac septal defects, and
abnormal genitalia. This diagnosis can only be made if a
karyotype is determined based on skin biopsy findings.
• Chromosome deletions on chromosomes 1q, 8p, and 15q
have been reported in association with congenital
diaphragmatic hernia. Deletions of chromosomes 8p and 15q
appear to be associated with heart malformations.
• Deficiencies in vitamin A availability, metabolism, and
signaling have been found to contribute to the development
of congenital diaphragmatic hernia in animal models and may
also be relevant in human fetal development
13. Congenital cystic adenomatoid malformation (CCAM)
• is a rare abnormality of lung development. CCAM is a cystic
area within the lung that stems from abnormal
embryogenesis. An adenomatous overgrowth of the terminal
bronchioles with a consequent reduction in alveolar growth
occurs.
• pulmonary hypoplasia may lead to the postnatal development
of respiratory distress; may be due to pulmonary
hypoplasia, mediastinal shift,spontaneous
pneumothorax, and pleural effusions secondary to hydrops.
• Polyhydramnios has also been associated with CCAM =
elevated intrathoracic pressure that leads to esophageal
compression and the inability to swallow
14. • Cases are typically identified prenatally by routine
ultrasonography screening.[6] Most postnatally identified cases
present in the newborn period. CCAM may present in the
older child and adult as an incidental finding or secondary to
repeated infection
Ssx
• Respiratory distress
• recurrent pulmonary infections due to bronchial
compression, air trapping, and inability to clear secretions.
• Hemoptysis
• Dyspnea and chest pain (a feature of pneumothorax, which
has been described as a presenting feature of CCAM.)
• Cough, fever, and failure to thrive have all been reported in
association with the presentation of CCAM.
15. • Tachypnea: Tachypnea is the most common sign encountered
in the newborn period, reflecting respiratory distress.
• Pneumothorax/air trapping: Signs consistent with a
pneumothorax or air trapping may be elicited, including
tracheal deviation, which indicates mediastinal shift, shifted
heart sounds, and decreased air entry on the affected side.
• Cyanosis
• Accessory muscle use
• Grunting
• Failure to thrive
• Chest radiography (usual appearance is of a mass containing
air-filled cysts, evident include mediastinal shift, pleural and
pericardial effusions, and pneumothoraces)
• CT scanning of the thorax (typical appearance is of
multilocular cystic lesions with thin walls surrounded by
normal lung parenchyma)
16. • Prenatal ultrasonography (may demonstrate evidence of
hydrops, such as fetal ascites or pleural effusions
• Type I lesions (see Histologic Findings) appear as multiple
large cystic areas in the lung. In type II lesions, multiple small
cysts are evident on ultrasonography.
• Perform echocardiography in all newborns with CCAM to rule
out any coexisting cardiac lesions. Furthermore, in infants
with respiratory distress, echocardiography may provide
evidence of persistent pulmonary hypertension (eg, right-to-
left shunting, increased pulmonary artery pressures).
Tx
• Surgical intervention is the mainstay of therapy for CCAM
