3. Congenital diaphragmatic herniation (CDH) accounts for a small
proportion of all diaphragmatic hernia. However, it is one of the most
common non-cardiac fetal intrathoracic anomalies.
Epidemiology
Congenital diaphragmatic hernias are seen in 1 of every 2000-4000 live
births. 84% are left-sided, 13% are right-sided and 2% bilateral.
Clinical presentation
Most congenital diaphragmatic hernias are detected either soon after
birth or on antenatal ultrasound. Mortality is predominantly due to
development of pulmonary hypoplasia, which is thought to be due to
mass effect on the developing lung. Such neonates are hypoxic and
have persistent fetal circulation due to pulmonary hypoplasia and
pulmonary hypertension.
Pathology
Diaphragmatic development is usually complete by ~9th week of
gestation. Congenital diaphragmatic hernias result from failure of
fusion of one of the pleuroperitoneal canals at about 8 weeks
gestation. They may contain stomach, intestines, liver or spleen.
4. Classification
Congenital diaphragmatic herniation can be classified into
two basic types on location:
Bochdalek hernia
most common fetal congenital diaphragmatic hernia
commoner on the left: 75-90%
posterolateral
large and associated with poorer outcome
presents earlier
mnemonic: BBBBB
Morgagni hernia
less common
anterior
presents later
5. Associations
While a CDH can occur as an isolated condition, associated
anomalies are relatively common and include:
pulmonary hypoplasia: also a complication
bronchopulmonary sequestration
aneuploidy: can be present in up to 50% of cases
trisomy 13
trisomy 18
trisomy 21
Turner syndrome: monosomy X
Pallister-Killian syndrome: tetrasomy 12p
Fryns syndrome
Cornelia de Lange syndrome
congenital cardiac anomalies
neural tube defects
anencephaly
Spina bifida
6. Hiatus hernias (HH) occur when there is herniation of abdominal
contents through the esophageal hiatus of the diaphragm into the thoracic
cavity.
Epidemiology
The prevalence of HH increases with age, with a slight female predilection.
Clinical presentation
Many patients with HH are asymptomatic and it is an incidental finding.
However, symptoms may include epigastric or chest pain, postprandial
fullness, nausea and vomiting.
Sometimes HH are considered synonymous with gastro-esophageal reflux
disease (GORD) but there is a poor correlation between the two
conditions.
Pathology
The most common contents of a HH is the stomach. Congenital hiatal
hernia: very rare.
. in most cases contains stomach.
. it's mainly associated with the congenital short esophagus, where the
stomach presents a non-reducible intrathoracic position.
. it's located postero-centrally (esophageal hiatus).
7. Acquired hernias
The most common diaphragmatic hernia, hiatal hernia being responsible
for about 90% of cases.
Hiatal hernia passage into the chest cavity of abdominal contents through the
esophageal hiatus.
contains more often stomach.
According to the herniated content may be classified into four types:
Type I - or sliding hernia, results from cephalic migration of the gastroesophageal
junction through a generally wider esophageal hiatus. Is the most common type
of hiatal hernia (≈ 90%) and patients are often asymptomatic.
Type II - or paraesophageal hernia, results from herniation of a portion of the
stomach into the chest cavity, with the gastroesophageal junction in its normal
position.
It is the second most common type of hiatal hernia (≈ 10% of cases).
Type III - or mixed type (among type I and II), it's uncommon and results
from cephalic migration of the gastroesophageal junction and herniation of a
portion of the stomach.
Type IV - it's rare, and can result from two situations: herniation of stomach
together with other abdominal viscera or herniation of most of the stomach,
except cardia and pylorus - the "upside down" stomach.
8. Traumatic hernia
Uncommon
most frequently results from blunt trauma and ≈ 90% from
traffic accidents
generally young males
affects more often the left hemidiaphragm (3:1)
the diaphragmatic defect tends to be more irregular than the
congenital ones; when it results from blunt trauma tends to be
bigger (> 10 cm) than those resulting from penetrating injury
(1-2 cm).
> 50% associated with other life-threatening organ damage
– emergencies
early diagnosis is difficult and depends on high degree of
suspicion
occasionally can be diagnosed later, clinically ranging from
chronic symptoms to surgical emergencies.
9. Radiographic features
Ultrasound
Indirect sonographic findings that should prompt a search for CDH include:
polyhydramnios
cardiomediastinal shift +/- abnormal cardiac axis
inability to demonstrate the normal stomach bubble
The study should be performed in the true transverse plane. Sonographic
diagnosis of CDH can be made from the following findings:
absent bowel loops in the abdomen
intra-thoracic herniation of the liver; noted in up to 85% of cases and is
associated with a worse prognosis
Left-sided CDH
stomach and small bowel (echo-free) at the same transverse level as
the heart on four-chamber view: this makes left sided hernias
comparatively easier to detect on ultrasound (as opposed to herniation
of echogenic liver on the right side)
stomach and small bowel superior to the inferior margin of the scapula
leftward displacement of the gallbladder
10. Right-sided CDH
color Doppler study
leftward bowing of the umbilical segment of the portal vein
portal branches to the lateral segment of the left hepatic lobe coursing
towards or above the diaphragm
gallbladder present above diaphragm
echodense space between the left heart border and stomach representing
the left hepatic lobe
Although classically considered a cystic echogenic lung mass, there are reports
of CDH appearing initially as a solid echogenic lung mass that evolves in
appearance with advancing gestation.
The observed-to-expected lung-to-head ratio (O/E LHR) may be calculated, and
correlates with the degree of pulmonary hypoplasia. Studies suggest that the
degree of lung hypoplasia can used to predict survival rates and the numbers
from the Antenatal-CDH-Registry group that apply to isolated left-sided CDH
and liver herniation are shown below:
O/E LHR < 15% (extreme pulmonary hypoplasia): virtually no chance of survival
O/E LHR 15-25% (severe pulmonary hypoplasia): predicted survival ≈ 15%
O/E LHR 26-45% (moderate pulmonary hypoplasia): predicted survival 30-75%
O/E LHR > 45% (mild pulmonary hypoplasia): very likely to survive
11. Plain radiograph
indistinct diaphragm with opacification of part of or all the hemithorax (typically left
sided)
scaphoid abdomen
deviation of lines
endotracheal tube
nasogastic tube
umbilical arterial and venous catheters
MRI
Fetal MRI may be helpful in further assessing the hernia and any
associated pulmonary hypoplasia.
Sequences typically performed for assessment of CDH include:
T2-weighted three-plane single shot fast spin echo (SSFSE)
Fluid filled stomach and small bowel appear hyperintense
T2-weightedbalanced steady state free precession (bSSFP)
flowing blood appears hyperintense: portal vessels may be seen extending toward
or above diaphragm
T1-weighted fast field echo (FFE)
liver appears moderately hyperintense
T2-weighted half-fourier acquisition single-shot turbo spin echo (HASTE)
lungs appear hyperintense (composed primarily of water) while heart,
mediastinum and liver appear hypointense
12. CT
In adults with congenital diaphragmatic hernia, previously
undiagnosed Bochdalek hernias are most frequently identified
when patients undergo computed tomography (CT) scanning for
reasons that appear to be unrelated to the hernia. These
Bochdalek hernias usually contain retroperitoneal fat or a kidney.
focal fat collection in middle mediastinum.
Hiatus hernia, omentum herniates through phrenicoesophageal
ligament may see increase in fat surrounding distal esophagus
paraesophageal hernia through widened esophageal hiatus
visualise contents, size, orientation of herniated stomach
within lower thorax
herniated contents lie adjacent to esophagus
widening of esophageal hiatus
dehiscence of diaphragmatic crura (>15 mm): increased
distance between crura and esophageal wall
13. Anteroposterior (AP) chest radiograph of a right-sided congenital diaphragmatic hernia (CDH) shows
a mediastinal shift and lung compression caused by herniation of the liver and multiple bowel loops.
14. Anteroposterior (AP) chest radiograph of a right-sided congenital diaphragmatic hernia (CDH) shows herniation
of the liver and bowel loops into the right hemithorax, with a shift of the heart and mediastinum to the left side.
15. Anteroposterior (AP) view of the abdomen in a patient with a congenital diaphragmatic hernia
(CDH) shows a gasless pattern caused by herniation of bowel loops into the right hemithorax.
16. Anteroposterior (AP) view of the chest in a patient with a congenital
diaphragmatic hernia (CDH) shows a left-sided Bochdalek hernia.
17. Anteroposterior (AP) view of the chest in a patient with a congenital diaphragmatic hernia (CDH) shows
herniation of bowel loops into the left hemithorax, with a shift of the heart and mediastinum to the right side.
19. Fetal retrosternal mediastinal hernia. Coronal (a) and axial (b) SSFSE T2-weighted MR
images obtained at 30 weeks 3 days gestation show a herniated liver (solid arrows)
ventral to the dorsally displaced heart (open arrow) on both sides of the chest.
20. Ultrasonogram of a right-sided congenital diaphragmatic hernia shows the liver herniating through the defect.
21. Neonatal Bochdalek hernia. a A 1-day-old boy with left Bochdalek hernia. Chest radiograph shows deviation of the
endotracheal tube and esophageal portion of the nasogastric tube to the right. Intrathoracic displacement of the nasogastric
tube tip, bowel and stomach confirm the diagnosis of diaphragmatic hernia. b A 2-day-old girl with right Bochdalek hernia.
Chest radiograph shows deviation of the nasogastric tube and umbilical venous catheter (arrow) to the left.
22. Serial chest radiographs in a newborn with left Bochdalek hernia show gradual resorption of large left
pneumothorax, progressive expansion of hypoplastic left lung, accumulation of fluid into the left chest
cavity and shift of mediastinal structures to a more normal position by postoperative day 7. Note
coiled epidural catheter (arrows). a Post repair day 1. b Post repair day 3. c Post repair day 7
23. A 4-day-old infant with a Bochdalek defect and herniation of solid viscera presenting with mild
respiratory distress. a Chest radiograph shows bowel in the left hemithorax and a soft-tissue
retrocardiac mass (arrows). b Coronal reconstructed, contrast-enhanced CT image shows
intrathoracic herniation of the spleen and left kidney through a large Bochdalek hernia
24. 7-year-old boy with neonatal patch repair of a Bochdalek hernia and recurrent defect. a Upper abdominal
radiograph shows bowel loops in the left chest. b, c Coronal (b) and sagittal (c) contrast-enhanced CT reconstructions
show a recurrent herniation of colon and mesentery through the medial and anterior lip of the patch repair
25. Bochdalek hernia- chest x-ray without diaphragmatic hernia signs. CT showed a small posterior and left
sided diaphragmatic defect (interrupted red line) through which passes abdominal fat (green shade).
26. Bochdalek hernia. Chest X-ray showed a supradiaphragmatic opacity in the lower half of the left
hemithorax, where one can view a hollow viscera air camera. CT showed a large diaphragmatic defect
(interrupted red line), through which passes the left kidney, spleen and colonic segment (brown shade).
27. Bochdalek hernia- Chest X-ray showed an opacity with colic air camera on the left lateral costophrenic angle. CT
showed a small diaphragmatic defect (red line), between the left posterior leaflet and the central tendon, through
which passes abdominal fat and colic segment. Patient underwent urgent laparoscopic repair. (C-colon)
28. A 2-week-old boy with Morgagni defect presenting with respiratory difficulty. Anteroposterior (a) and lateral
(b) chest radiographs show intrathoracic bowel herniating through an anterior foramen of Morgagni defect
30. 7-day-old boy with a Morgagni
hernia. a, b Anteroposterior (a)
and lateral (b) chest radiographs
show a poorly defined right chest
mass and right upper lung
atelectasis. c Sagittal color
Doppler sonogram of the right
chest obtained on the same day
shows herniation of the liver (L)
through an anterior foramen of
Morgagni hernia (arrows). Note
the abnormal course of the
hepatic vein and the difference in
echotexture of the intrathoracic
(T) and intraabdominal (A)
portions of the liver. d, e Sagittal
(d) and coronal (e) contrast-
enhanced CT reconstructions
obtained the same day confirm
anterior liver (L) herniation
31. Morgagni hernia – case 2. 49 y/o female with dyspnea and no traumatic history. Chest x-rays showed an inferior-
anterior opacity on the right hemithorax (green shade), containing intestinal loops. CT showed an anterior-right
diaphragmatic defect (interrupted red line), through which passes fat, colon segments and blood vessels to the chest,
with focal stenosis of the herniated contents on the diaphragmatic defect – collar sign (green line). Patient underwent
open surgery, where it carried out reduction and suture of the diaphragmatic defect. (C-colon)
32. Morgagni hernia – On chest radiography an opacity was incidentally detected occupying the right cardiophrenic
angle. MR showed an anterior-right diaphragmatic defect (interrupted red line), through which epiploic fat
migrated into the thorax, with clear focal stenosis of the fat on the diaphragmatic defect – collar sign (green line).
33. Morgagni hernia – Chest x-rays showed an inferior-anterior opacity on the right hemithorax (green
shade), containing intestinal loops. CT showed an anterior-right diaphragmatic defect (interrupted red
line), through which passes fat, colon segments and blood vessels to the chest, with focal stenosis of
the herniated contents on the diaphragmatic defect – collar sign (green line). Patient underwent open
surgery, where it carried out reduction and suture of the diaphragmatic defect. (C-colon)
34. Diaphragmatic tear in a 10-year-old child who was involved in a motor vehicle accident.
35. Central, retrosternal hernia (pentalogy of Cantrell) in a 5-month-old with a large omphalocele
repaired as a newborn. Sagittal (a), anterior coronal (b), and axial (c) contrast-enhanced CT
images of the chest show anterior herniation of the heart, liver (L) and bowel through an
anterior thoracoabdominal defect. Note the hypoplastic sternal ossification centers (arrow)
36. A 4-month-old girl with a paraesophageal hernia who presented with vomiting. a Chest radiograph obtained during
an upper gastrointestinal series shows intrathoracic herniation and organoaxial volvulus of the stomach into a
paraesophageal hernia. b Delayed radiograph of the upper abdomen shows herniation of the transverse colon
37. Newborn with a congenital short esophagus presenting with respiratory distress and gagging. a Chest
radiograph shows a large cystic structure in the right hemithorax within which is coiled a nasogastric tube.
Note a lens-shape density overlying the right lower chest (arrows) b Radiograph obtained after administration
of water-soluble contrast material via the nasogastric tube confirms a short esophagus with a fixed
intrathoracic stomach. Note the malfixated small bowel in the abdomen. c Sagittal T2-W MR image through
the right chest shows a small additional posterolateral (Bochdalek) hernia with liver herniation (arrow)
39. Hiatal hernia type I or sliding hernia - on chest X-ray. CT incidentally shows a small hiatal hernia that results from
cephalic migration of the gastroesophageal junction through a wider esophageal hiatus. Targeted therapy was
not required. Note the clear focal stenosis of the herniated contents through the hiatus – collar sign (green line).
40. Hiatal hernia type II or paraesophageal hernia - This is the case of a 73 y/o male with solids dysphagia
and transient chest pain. CT showed herniation of gastric fundus with normal topography of the
gastroesophageal junction. Note the clear focal stenosis of the herniated contents through the hiatus
– collar sign (green line). Legend: Esoph.-esophagus; GE-gastroesophageal junction.
41. Hiatal hernia type III or mixed - This is the case of 82 y/o female, with a posterior mediastinal opacity
on chest X-ray. CT showed a detachment from the columns of the right crus resulting in widening of the
esophageal hiatus, allowing cephalic migration of the gastroesophageal junction and herniation of
almost the whole stomach to the thoracic cavity, with the pylorus at the level of esophageal hiatus.
Note the clear focal stenosis of the herniated contents through the hiatus – collar sign (green line).
42. Hiatal hernia type IV - This is the case of an 83 y/o female with abdominal pain and dyspnea. Chest X-
ray showed a widened lower mediastinum and images of hollow viscus in the chest. CT showed
detachment from the columns of the right crus resulting in widening of the esophageal hiatus,
allowing cephalic migration of stomach and colon to the thoracic cavity. Note the clear focal stenosis
of the herniated contents through the hiatus – collar sign (green line). Legend: S-stomach; C-colon
43. Hiatal hernia type IV or "upside down" stomach - This is the case of a 75 y/o female with a basal opacity of the
left hemithorax and air-fluid levels on chest X-ray. Upper gastrointestinal series revealed herniation and gastric
volvulus, with both cardia and pylorus at the level of esophageal hiatus. CT showed a detachment from the
columns of the right crus resulting in widening of esophageal hiatus, allowing complete migration of the
stomach to the thoracic cavity, with a discrete cephalic migration of the pylorus and cardia.
44. Traumatic diaphragmatic hernia – case 1. 35 y/o female victim of a car accident. Chest X-ray
showed the classic sign of a nasogastric tube loop in the stomach above the diaphragm (pink line).
On CT it was difficult to define the diaphragm at the left side, without marked collar signal of the
herniated contents, typical findings of traumatic diaphragmatic rupture. Note the herniated
content fallen to a dependent position against the posterior left ribs - dependent viscera sign
(yellow arrow). This patient had associated splenic injury and underwent emergent surgery.
45. Traumatic diaphragmatic hernia – case 2. 65 y/o male, with history of car accident 10 years ago. Chest X-ray revealed
opacity of the lower third of the right hemithorax, which displays a hollow viscera air camera. MR showed an
anterior-right diaphragmatic defect (interrupted red line), through which migrated epiploic fat, stomach, colon, and
liver, with clear focal stenosis of the contents on the diaphragmatic defect – collar sign (green line). Note the unusual
right sided hernia and the more irregular layout of the diaphragmatic defect. Legend: L-liver; S-stomach; C-colon.
46. A 66-year-old man with previous history of car accident 13 years ago complained of increasing
shortness of breath. A. Chest radiograph: apparent elevation of the right hemidiaphragm. B. Coronal
T1-weighted MRI: discontinuity of the right diaphragm (black arrows) and bowel herniation. C. Barium
enema and UGI: herniation of the colon and a portion of stomach through the tear.
47. A 35-year-old man with previous history of aortic surgery for isthmic pseudoaneurysm after a car accident 2 years ago complained of severe
chest pain and dyspnea for 3 days. Chest radiograph at emergency room shows an opacification of the left hemithorax. A. Contrast-enhanced
multi-detecter row CT scan: lack of visualization of the left hemidiaphragm and dependant viscera sign. B. Sagittal and C. Coronal reformatted
image: severe constriction of the stomach at the site of herniation (collar sign). D. Coronal volume-rendered CT image shows well the
herniated constricted stomach (long arrow), dilated esophagus, and pleural effusion and collapsed left lung. Note also the normal position of
the nasogastric tube (small arrows) in the non herniated portion of the stomach. At surgery, gastric strangulation was found.
48. Complete eventration of a hemidiaphragm is more common in males and typically occurs on the left side
49. Coronal CT following esophagectomy shows left diaphragmatic hernia with herniation of colon (arrow) into left hemithorax.