Congenital diaphragmatic hernia (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 GATA locus), 8q22.3 (the FOG2 locus), 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. • NO is 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.