Congenital diaphragmatic hernia (CDH)

brief description of CDH

1. Congenital
Diaphragmatic hernia
-By Dr. Nishant Tawari

2. Definition
•Congenital Diaphragmatic Hernia (CDH) is defined
by the presence of an orifice in the diaphragm that
permits the herniation of abdominal contents into the
thorax.

5. Etiology
•Unknown. Retinoid signaling pathway defect.
•Usually congenital.
•Mostly sporadic but familial cases have also
been reported.
•Environmental-MMF (in rabbits), vitamin-A
deficient diet (in rats)

6. Genetics:
•‘Hot spot’ for CDH: 15q26.2, 1(q41-q42), 8p23.1
(the GATAlocus), 8q22.3 (the FOG2locus), and
22(q11-qter).
•About 10% of all individuals with CDH have a
chromosome abnormality (trisomy 18 and
isochromosome 12p).
•CDH is also a part of several syndromes: trisomy
21, trisomy 13, trisomy 18, Fryns Brachmann-de
Lange, Pallister-Killian, and Turner syndrome.

7. Incidence:
•~1/3000 live births.
•Female : Male is >2
•>80% left sided
•Associated anomalies in 30 -40% cases

8. Types : On the basis of site
of deformity
•Posterolateral: BOCHDALEK hernia
•Retrosternal: MORGAGNI hernia
•Esophageal hiatus: Hiatal hernia
•Paraesophageal: adjacent to hiatus

10. BOCHDALEK HERNIA
•Most common (>90%)
•Posterolateral.
•Mostly left sided.
•Also generally called as Congenital
diaphragmatic hernia.
•Associated anomalies have been reported in
around 30% cases (CVS anomalies, skeletal,
gastrointestinal anomalies, CNS lesions).

11. •Although, it is a structural defect but major
limiting factor for survival is associated
pulmonary hypoplasia.

12. •Presentation:
Respiratory distress is a cardinal sign. It may occur
immediately after the birth or after 48 hours.
Scaphoid abdomen, increased chest wall diameter.
Bowel sounds heard in the chest with decreased
breath sounds.
Apex beat may be displaced.
Small group of infants with CDH presents beyond
neonatal period with gastrointestinal upset or mild
respiratory symptoms.

13. Diagnosis
Before birth:
•Prenatal USG: (between 16 and 24 weeks)
>50% detection. LH ratio and position of liver for
prognosis.
•Fetal MRI can further define the lesion.
•Amniocentesis.

14. After birth:
•A chest radiograph with nasogastric tube in situ
is needed to confirm the diagnosis.
•USG Chest.
•In some infants with an echogenic chest mass,
further imaging (CT and/or MRI) is required.

17. MORGAGNI HERNIA
•Anteromedial diaphragmatic defect.
•2-6%
•Failure of closure of sternal portion of diaphragm.
•Usually a small defect.
•Mostly on right side.
•Small intestine, liver or transverse colon are the usual
content of the sac.

18. •Majority are asymptomatic at birth and diagnosed
incidentally beyond the neonatal period.
•Rarely, recurrent respiratory infections, cough,
vomiting or reflux may be the presenting symptoms.
•Difficult to diagnose antenataly.
•Chest radiograph.
•CT scan or MRI will be required to confirm the
diagnosis.

19. Differentials
•Other diaphragmatic disorder such as
eventration (elevation of thinned diaphragm),
cystic lesions of lung, neurogenic tumors,
pulmonary agenesis, loculated empyema,
cavitatory lesions.

20. MANAGEMENT
Before birth:
•Antenatally diagnosed case should be delivered
in well equipped hospital.
•Termination of pregnancy may required in some
cases diagnosed with chromosomal anomalies.
•Fetal surgeries.
•Tracheal balloon obstruction (FETO) in severe
cases.
•Maternal corticosteroids.

22. After birth:
•Initial management: Careful protocol of
respiratory assistance should be implemented.
(prolonged BMV should be avoided) (immediate
intubation-low volume, low PIP, and high
frequency ventilation)
•Ventilation strategies: CMV, HFOV, ECMO
•Factors causing pulmonary hypertension should
be avoided (hypoxia, acidosis, hypothermia)

23. •NOis useful in PPHN but trials have not
demonstrated improved survival or reduced need
of ECMO.
•Surgical repair: done after 48 hours of
stabilisation and resolution of pulmonary
hypertension. Subcostal approach is mostly
used. Interrupted sutures or patch without
leaving a tube.
•2D Echo is helpful for monitoring.

24. Outcome or longterm
survival
•Live born with CDH : survival is ~67%.
•Spontaneous fetal demise in 7-10%.
•Pulmonary problems: both obstructive and
restrictive patterns can occur.
•BPD which gradually improves with age.
•GERD (>50% cases), Intestinal obstruction
(20%), recurrence of hernia (5-20%).

25. •Delayed growth initially and neurocognitive
defects.
•Others: pectus excavatum and scoliosis.

26. Poor prognosis
•Associated major anomaly.
•Severe pulmonary hypoplasia.
•Antenatal USG showing LH ratio <1.
•Right sided hernia.
•Severity of pulmonary hypertension.
•Size of the defect.
•Respiratory distress within 24 hours of life.
•Product of hernia is liver.