Congenital Diaphragmatic Hernia

1. CONGENITAL
DIAPHRAGMATIC
HERNIA

2. DEFINATION
• Congenital diaphragmatic hernia (CDH) is a
structural birth defect characterized by
protrusion of abdominal viscera into the
thorax through an abnormal opening or
defect that is present at birth

3. HISTORY
• Diaphragmatic hernia was first described by Ambrose Pare
in the late 16th century
• The first published case of congenital diaphragmatic hernia
in a child appeared in the early 18th century
• The first report of a successful surgical repair was not until
the early 20th century.
• Nearly 25 years later, Hedblom published a large series of
patients who underwent surgical repair for diaphragmatic
hernia, concluding that early surgery would improve survival.
• Bowditch was the first to make the bedside diagnosis of
CDH
• Successful repair of CDH was first reported by Gross and
Ladd in 1940.

4. EPIDEMIOLOGY
• Incidence- 1 in 2000 to 3500
• One third of infants with CDH are still born
( mortality due to other congenital anomalies)
• When still born are counted with live births,
females appear to be more commonly inflicted
• More common on the left sided.(80%)
• B/L CDH are rare and are associated with other
anomalies.

5. EPIDEMIOLOGY
• Infants with isolated CDH are more likely to be
premature, macrosomic and male and one third of
affected infants may have associated major
defects.
• Women who are thin or underweight for their
height may have increased risk of having an infant
with an isolated CDH.
• Recurrence rate in first degree relative 1 in 45 or
around 2%
• Chromosomal abnormalities- 9-34%
• CDH with abnormal karyotype has been associated
with poor prognosis

6. ETIOLOGY
• Unknown
• Exposure to environmental hazards or
pharmacological agents to genetically exposed or
susceptible individuals.
• Alteration in retinoid regulated target genes may
be responsible for CDH development

7. ANIMAL STUDIES
• In the 1970s, toxicological studies of the
herbicide nitrofen(2,4-dichloro-phenyl-p-
nitrophenyl ether) -nitrofen induced
developmental anomalies in the lungs, hearts,
diaphragm and skeletal tissues of fetuses exposed
in utero
• Other related chemicals-
– BPCA is a breakdown product of a thromboxane-A2
receptor antagonist
– Bisdiamine is a spermatogenesis inhibitor,
– SB-210661 is a benzofuranyl urea derivative developed
for inhibiting 5-lipoxygenase

8. ANIMAL STUDIES
• Initial studies into the pathogenesis of the defect
– Abnormal phrenic nerve innervation
– Myotube formation were responsible for the diaphragm defect
• Nitrofen studies
– Inhibit the retinoic acid synthesizing enzyme, retinol
dehydrogenase-2 (RALDH2)
• Transgenic mice with Fgf10 inactivated do not
develop lung tissue
• Despite having essentially no lungs,-Fgf10 null-
mutant mice have normal diaphragms.
• Defects in the diaphragm can be induced by
teratogen exposure in the absence of lung
tissue

9. ANIMAL STUDIES
• PPF defects have been observed in rats bred on a
Vitamin A-deficient diet and mice with a
functionally inactivated wt1 gene—both of which
also have Bochdalek CDH
• The PPF is best visualized at E13.5 of rat
gestation. In nitrofen-exposed fetuses examined
at this age, it is clear that the postero-lateral
portion of the PPF is malformed

10. ANIMAL STUDIES
• Nonclosure of the PPCs or
• Defect in muscularization gives rise to the hole in
the diaphragm.
• The PPF mesenchyme forms between the 5th and
7th weeks of gestation in humans, before closure
of the PPC and muscularization of the diaphragm;

11. ANIMAL MODEL

12. ANIMAL STUDIES
• Central to this hypothesis is the PPF, a transient
structure which forms early in diaphragm
development and is the target for migratory
muscle precursor cells(MMC) and the phrenic
nerve.
• Evidence from animal models
– It is a malformation of the
nonmuscular component of the PPF
that underlies the defect in the
mature diaphragm.

13. ASSOCIATIONS
• Incidence 10-50%
• Skeletal defects-32%
– Limb reductions
– Costovertebral defects
• Cardiac anomalies-24%
– Left ventricular hypoplasia with hypoplasia of the left
aortic arch
– Other outflow defects- VSD,TOF,TGA,double outlet
right ventricle and aortic coarctation
• Anatomical anomalies of the tracheobronchial
tree-18%
– Congenital tracheal stenosis
– Tracheal bronchus
– Trifurcated trachea

14. ASSOCIATIONS
• Secondary Defects
– Lung hypoplasia
– Abnormalities in cardiac position and patent ductus
arteriosus
– Intestinal malrotation
• Nonhernia-related anomalies -73%
– Central nervous system
– Cardiovascular system
– Genitourinary and gastrointestinal systems

15. CDH-ASSOCIATED GENETIC
SYNDROMES
• Fryns
– Diaphragmatic defects, coarse facial features, abnormal
ear/nose, cleft lip and palate, micrognathia, genitourinary/renal
anomalies, CNS anomalies, distal digital hypoplasia
• Donnai-Barrow
– Diaphragmatic hernia, omphalocele, hypertelorism, absent
corpus callosum, myopia, severe sensorineural hearing loss
• Thoracoabdominal
• Craniofrontonasal
• Cornelia de Lange
• Beckwith-Wiedemann
• Simpson-Golabi-Behmel

16. SPECIFIC CDH-RELATED GENES
• COUP-TFII (15q26)-Recurrently deleted in
CDH
• WT1 (11p13)-Recurrently deleted in CDH
• SLIT3 (5q35 ) Recurrently deleted in CDH
• FOG2 (8q22)-Recurrently deleted in CDH

17. RECURRENCE
• Isolated-CDH, with a negative family history, the
recurrence risk for future pregnancies -2%
• Positive family history, a specific genetic
syndrome, or a chromosomal abnormality -50%
recurrence risk for CDH or other congenital
defects.

18. ASSOCIATIONS
• Still born group
– Neural tube defects
– Anencephaly
– Myelomeningocele
– Hydrocephalus
– Encephaloceles
• Those who survive to birth
– Neural tube defects
– Cardiac defects
– Esophageal atresia,Omphalocele and cleft
palate

19. EMBRYOLOGY
• Four distinct components
• The anterior central tendon forms from the septum
tranversum
• The dorsolateral portions from the pleuroperitoneal
membranes
• The dorsal crura from the esophageal mesentery
• The muscular portions from the thoracic intercostal muscles

20. DIAPHRAGM

21. LUNG DEVELOPMENT
• Embryonic phase
• Pseudoglandular phase
• Canalicular phase
• Saccular phase
• Alveolar phase

22. EMBRYONIC PHASE
• 3rd
Week-Formation of a diverticulum off
the caudal end of the laryngotracheal
groove
• 4th
week- trachea and two primary lung buds
forms
• 6th
week-lung buds develop into defined
lobar structures

23. PSEUDOGLANDULAR
• 7th
– 16th
week- lung airway
differentiation
• All bronchial airways develop
• Preacinar vascular development is
completed by 16 weeks

24. CANALICULAR
• 16th
– 24th
week-air space development occurs as
crude alveolar air sacs begin to take shape
• Type 1 pneumocytes begin to differentiate
• Type 2 pneumocytes begin to appear
• Gas exchange becomes functional

25. SACCULAR
• 24th
weeks to term-Maturation of
crude alveolar air spaces
• Continued remodelling of the air
space dimensions and maturation of
surfactant synthesis

26. ALVEOLAR
• After birth- Mature adult like alveoli
begin to appear
• Extensive alveolar maturation and
multiplication takes place from birth
until 8 years of life
• Some think alveolar formation may be
completed by 2 years

27. PATHOLOGY
• If closure of the pleuroperitoneal canal has not
occurred by the time midgut returns to the
abdomen during gestation 9-10 week.
• The resulting abnormal position of the bowel
prevents its normal counterclockwise rotation and
fixation
• No hernial sac is present if the event occurs
before the complete closure of the
pleuroperitoneal canal
• Non muscularised membrane forms a hernial sac in
10-15% of cases

28. PATHOLOGY
• CDH defects usually features a
completely open space between the abdomen and
the chest although some may have a membrane of
pareital pleura and peritoneum acting as a hernia
sac
• Hernial contents may include left lobe of
liver,spleen,stomach,entire GIT.
• The hepatic veins may drain ectopically into the
right atrium and fibrous fusion between the liver
and the lung.
• U/L visceral herniation affects both the I/L and
C/L pulmonary development, although hypoplasia is
predictably more on the I/L side

29. VASCULAR PATHOLOGY
• Pulmonary vascular bed is distinctly abnormal in lungs from
patients wth CDH.
• Significant adventitial and medial wall thickening has been
noted in pulmonary arteries in all sizes in CDH with abnormal
muscularisation of the small preacinar and intraacinar
arterioles
• Increased susceptibility to fixed and intractable pulmonary
hypertension.
• Increased adventitial thickness of
pulmonary veins has been noted in
CDH infants which is secondary to
pathology or treatment of pulmonary HT

30. DIAGNOSIS
• Prenatal USG- 40-90% of cases
• As early as 11 weeks with mean gestational age -24
weeks
• Polyhyramnios -80% of CDH(Kinking of
gastroesophageal junction)
• Finding
– Stomach or fluid filled loops of intestine in the fetal
thorax at the same cross section as the heart
– Absence of stomach in the abdomen
– Presence of liver or any other solid viscera in the thorax
with or without rightward mediastinal shift.

31. Fetal MRI
• Poor accoustic
contrast between
fetal lung and
herniated viscera
• Assess liver position
with respect to
diaphragm
• Assess lung volume and
pulmonary hypoplasia

32. SYMPTOMS
• Spectrum
– Degree of Pulmonary Hypoplasia
– Reactive Pulmonary hypertension
• Respiratory Distress
– At Birth( Majority first 24 hrs)
– Cyanosis,gasping,sternal retractions and poor respiratory
effort
• Scaphoid Abdomen
• Asymmetrical distended chest
• Absent breath sounds I/L side
• Mediastinal compression

33. LATE PRESENTATION
• 10-20%
• Recurrent respiratory illness
• Chronic pulmonary disease
• Pneumonia
• Effusion
• Empyema
• Gastric Volvulus

34. RADIOGRAPHY
• Loops of intestine
in the chest
• Location of the
gastric bubble
• Shifting of the
cardiac silhouette
into the C/L side

35. DIAGNOSIS
• Renal and Cranial USG
• ECHO

36. DIFFERENTIAL DIAGNOSIS
• Eventration of Diaphragm
• Anterior Diaphragm Hernia of
Morgagni
• Congenital Esophageal Hiatal Hernia
• Congenital Cystic Disease of Lung
• Primary Agenesis of Lung

37. PROGNOSTIC FACTORS
• Anatomic factors
– Lung to head ratio(LHR< 1.0)
– Analysis of Cardiopulmonary structure
• Cardioventricular index( LV/RV)
• Cardiovascular index(Ao/PA)
• Modified McGoon Index(Combined diameter
of hilar pulmonary arteries indexed to
descending aorta) A modified McGoon index
equal to or less than 1.3 predicted mortality
with a sensitivity of 85% and specificity of
100%

38. PROGNOSTIC FACTORS
• Physiological Parameters
• Arterial blood gas
– Alveolar arterial oxygen gradient(AaDo2)
• AaDo2 = [(713 X FiO2) - PaCO2/0.8] - PaO2
– Ventilatory Index
• VI = (RR X MAP X PaCO2)
– Modified ventilatory Index
• MVI = (RR X PIP X PaCO2) + 1000
– Oxygenation Index
• OI = (MAP X FiO2/PaO2)

39. PROGNOSTIC FACTORS
• Pulmonary Function Test
– Compliance
• >0.25 mL/cm H2O/kg
– Initial Tidal Volume
• >3.5 mL/ kg
– Functional Residual Capacity

40. MANAGEMENT
• Prenatal Care
• Preoperative Care
– Resuscitation
– Ventilation
– Pharmacology
– Surfactant
– Nitric Oxide
• Surgical Management
• Post operative Management

41. PRENATAL CARE
• Search for other congenital
anomalies
• Karyotype evaluation
• Reference to appropriate tertiary
care centre
• Spontaneous vaginal delivery
• Fetal intervention is investigational
and highly experimental

42. PRENATAL PREDICTION OF
SURVIVAL IN FETAL CDH
• The position of the liver (“liver-up versus “liver-
down”).
– Current survival rate for liver-up CDH is around 50%.
– The incidence of liver herniation is unknown, but up to
75% of CDH patients have some portion of the liver in
the chest.
– Degree of liver herniation (mean liver/diaphragm ratio
was significantly higher in the survivors compared with
the non-survivors)
• Sonographic measurement of the right lung area-
to-head circumference
– (LHR is a sonographic measurement of right lung size
standardized to head circumference in left-sided CDH)

43. OTHER PREDICTORS
• Three-dimensional measurement of lung volume by
fetal MRI.
– High risk group with Lung vol<10 ml at 28WG or vol<25 ml
at 34WG
• Three dimensional sonography
• Measurement of pulmonary artery diameters.
• Physiological assessment of fetal lung function is
ideal but limited
– Pulmonary vascular function.
– The pulmonary arterial pulsatility index with or without
maternal oxygen supplementation

44. PRENATAL INTERVENTION
• Open fetal operation
– Maternal laparotomy,
– Hysterotomy, and
– Fetal laparotomy/thoracotomy
– Successful repair was possible in fetuses with liver down
CDH
• Therapeutic tracheal occlusion (TO)
– Increased lung tissue stretch (turns on mechano-
transduction pathways resulting in lung growth
– Fetal lung growth in normal and CDH animal models
– Increased number of alveoli accompanied by an
appropriate increase in capillary vessels
– Remodeling of pulmonary arterioles which is likely to
ameliorate pulmonary hypertension

45. PRENATAL INTERVENTION
• Video and ultrasound-assisted fetal
endoscopy “FETENDO clip”.
– High rate of preterm delivery
– Irreversible damage to the laryngeal nerve and
trachea
• (FETENDO-balloon)
– Single 10-Fr cannula and a 1.2-mm fetoscope
without maternal laparotomy under regional
anesthesia

46. FETENDO V/s OPEN FETAL
• FETENDO was less invasive compared with open fetal
surgery comparing
– Cesarean delivery as delivery mode (58.8% versus 94.8%)
– Requirement for intensive care unit stay (1.4% versus
26.4%),
– Length of hospital stay (7.9 days versus 11.9 days)
• No differences
– Requirement for blood transfusions (2.9% versus 12.6%).
– Premature rupture of membranes(44.1% versus 51.9%),
– Pulmonary edema (25.0%versus 27.8%)
– Placental abruption (5.9% versus 8.9%),
– Preterm delivery (26.5% versus 32.9%)
– Interval from the procedure to delivery (6.0 weeks
versus 4.9 weeks) between FETENDO and open Sx.
Golombeck K, Ball RH, Lee H, et al. Maternal morbidity after maternal-fetal
surgery. Am J Obstet Gynecol 2006;194:834-9.

47. LIMITATIONS OF FETO
• Lung growth response to TO was variable
• Pulmonary function of the newborns treated with
TO was abnormal even when dramatic lung growth
was observed in utero
• The mere distention of the existed lung air space
can cause marked increase in LHR
• Prolonged TO reduces the number of type II
cells, resulting in surfactant depletion
• Flake AW, Crombleholme TM, Johnson MP, et al. Treatment ofsevere
congenital diaphragmatic hernia by fetal tracheal occlusion:clinical
experience with fifteen cases. Am J Obstet Gynecol 2000;183:1059-66

48. PREOPERATIVE CARE
• Resuscitation
– Physiological Emergency rather than a
surgical emergency
• Pulmonary hypoplasia
• Reversible pulmonary hypertension
– Monitoring arterial oxygen saturation
– Proper temperature regulation, glucose
hemostasis and volume status
– Metabolic Acid Base

49. PREOPERATIVE CARE
• Ventilation
• Pressure Cycle Ventilator
– 100 breaths/min, PAP - 18-22 cm H2O ,
No PEEP
– 20-40 breaths/min, PAP- 22-35 H2O , 3-
5 cm PEEP
• Goal Of Ventilation
– Pa O2 > 60 mm Hg( Sa O 2 90%-100%)
– P Co2 < 60 mm Hg

50. ROLE OF ECMO
• Inclusion criteria for ECMO
– Oxygenation index (OI) > 25-40
– Pa O2 postductally < 40 mm Hg over 2 hrs
– Pa O2 preductally < 50 mm Hg over 2-4 hrs
– Pa O2 postductally < 50 mm Hg
over 12 hrs
– Pa CO2 > 70 mm Hg under HFOV
– Severe barotrauma/air leak, and/or
refractory hypercarbia
• Exclusion criteria for ECMO
– Prematurity (GA <34 weeks)
– Weight below 2 kg
– Intracranial hemorrhage and
– Contraindication to anticoagulation.

51. QUESTIONS WITH ECMO
• Timing of repair
• Complications of ECMO
• Role of surfactant and Liquid lung
distension with ECMO
• Role of HFOV with ECMO

52. PREOPERATIVE CARE
• Pharmacology
• Decrease pulmonary hypertension
– NTG, Nitroprusside, Isoproterenol,
Captopril
• New Management strategies
– Calcium channel blockers, Prostacyclin
derivatives, endothelin receptors
antagonist, Phosphodiesterase-5
inhibitors

53. SURGICAL MANAGEMENT
• In 1940, Ladd and Gross stressed the
importance of early surgical therapy for
CDH patience.
• The paradigm shift from emergent to
delayed repair occurred in 1987( Sakai et
al).

54. END POINT OF PREOPERATIVE
STABILISATION
• Hemodynamically stability
• Acid-base status within the normal
physiological range
• Minimal ventilatory support
• Resolution of pulmonary hypertension
• Improvement in pulmonary compliance
• Resolving pulmonary radiographic
abnormalities

55. SURGICAL APPROACH• SMALL
– Closed primarily with nonabsorbable suture
• LARGE
– Prosthetic materials:
• Polytetrafluoroethylene
(PTFE) (Gore-Tex)
• Polypropylene (Marlex)
• Dacron
– Muscle flaps:
• Abdominal muscles
• Latissimus dorsi
• Latissimus dorsi and serratus
anterior
– Bioactive Materials:
• Surgisis

56. TUBE THORACOSTOMY
• Indication
– Draining significant hemorrhage
– Uncontrolled air leak
– Chylothorax, pneumothorax or a
– Large pleural effusion.
• Disadvantage
– Contra- and ipsilateral iatrogenic pulmonary
injury via mediastinal shift after pleural suction
and

57. MINIMAL INVASIVE SURGERY
• Thoracoscopic approach
– Intraabdominal stomach
– Minimal ventilator support (PIP <24)
– No evidence of pulmonary hypertension
• Disadvantages
• High failure rate (14%)
• Prohibitive increases in PCO2
• Acidemia
• Gut cannot be deflated and
controlled intarabdominally
• Stretching and abdominally
patching cannot be performed.

58. RECURRENT HERNIATION
• Recurrent herniation is noted in up to 22% of CDH
survivors.
• It is seen more frequently in those patients with
very large defects and requiring patch repair of
the diaphragm.
• Recurrent herniation usually presents before 3
years of age,
• Some have described a bimodal distribution of
recurrence with
– 14% prevalence-( 1 and 3 months)
– 28% prevalence-( 10 and 36 months).

59. SURGERY FOR RECURRENCE
• Optimal timing
• Prompt repair,
– Minimizing the risk of incarceration.
– Early repair in a newborn could be high risk
• Delayed Repair
– Close followup, particularly if the patient is
without serious symptoms secondary to the re-
herniation.

60. EVENTRATION OF DIAPHRAGM
• It is characterized by incomplete
muscularization of the diaphragm, allowing
the abdominal contents to protrude into
the thoracic cavity in the areas where no
muscle has formed, and the diaphragm is
subsequently weaker.
• It may be congenital or acquired.

61. EVENTRATION OF DIAPHRAGM
• First noted in 1774 when Jean Louis Petit
noted it on a postmortem examination
• It accounts for 5% of all diaphragmatic
anomalies.
• most commonly unilateral with only a few
bilateral cases
• The involvement of the diaphragm can be
total or partial

62. ASSOCIATIONS
• Abnormal pulmonary segmentation,
• Congenital heart disease
• Chromosomal anomalies

63. CLINICAL MANIFESTATIONS
• Respiratory symptoms
– Cyanosis
– Dyspnea,
– Repeated attacks of pneumonitis
– Decreased exercise tolerance.
• Gastrointestinal symptoms
– Difficulty feeding
– Failure to thrive
– Regurgitation
– Nausea and heartburn
– Complete gastric volvulus

64. INDICATION
• Large functional deficit in the
function of the I/L lung on
ventilation/perfusion studies
• Asymptomatic

65. MANAGEMENT
• Abdominal or Thoracic approach
• Thoracoscopic or Laparoscopic
approach
• Plication of diaphragm

66. MORGAGNI HERNIA
• Morgagni, retrosternal, or parasternal hernia.
• This rare anterior defect of the diaphragm occurs
through the space of Larrey
• Only 5% of all CDH cases.
• Incidence among children with Down’s syndrome
may be as high as 1:1000.
• It is characterized by herniation of abdominal
contents through the foramen of Morgagni; small
triangular areas of the diaphragm adjacent to the
lower end of the sternum.

67. SIGNS AND SYMPTOMS
• Usually present in older children or adults
• Typically a sac is present which includes
the small intestine or colon
• Associated anomalies may include
malrotation

68. MANAGEMENT
• Upper transverse incision
• The diaphragm is sutured to underside of
the posterior rectus sheath at the costal
margin after reduction of the hernia and
resection of the sac.
• Thoracoscopic or laparoscopic approach are
also used

69. CENTRAL TENDON DEFECT
• Central tendon defects are characterized
by congenital herniation of abdominal
contents through the central tendon ofthe
diaphragm.
• The embryogenesis of this defect is poorly
understood;
– Failure to form, rupture, or stretching of the
central tendon due to an underlying weakness
have all

70. LONG TERM RESULTS
• Heavily influenced by accompanying congenital
morbidity
• Spirometry
– Reduced lung capacity
– Restricted and obstructive lung functions
• Prone to scoliosis and funnel chest
• Neurological development was reduced in 45%
• Children grow less and stay behind body weight in
the first 2 years of life.
• Persistent pulmonary hypertension

71. CONCLUSION
• Overall survival has reached 80%
• Direct result of changes in medical and
surgical management.
• Preoperative physiologic stabilization and
subsequent elective repair have become
the cornerstones of management

72. THANK YOU