Congenital Diaphragmatic Hernia

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Congenital Diaphragmatic Hernia

Patricia R. Chess, MD

Basic Information

Definition

Congenital diaphragmatic hernia (CDH) is a diaphragmatic defect resulting from failure of the posterolateral portion of the diaphragm to develop, usually involving the foramen of Bochdalek, resulting in herniation of abdominal contents into the chest cavity. This leads to various degrees of pulmonary hypoplasia.

Synonyms

Congenital hernia of the diaphragm
D-hernia
Diaphragmatic hernia

ICD-9-CM Code

756.6 Congenital diaphragmatic hernia

Epidemiology & Demographics

• Prevalence is 1 case per 3000 live births.
• Most cases are sporadic.
• There is a 2% recurrence risk, and an autosomal recessive inheritance pattern usually is seen in recurrent cases.
• The mortality rate is up to 50%, even with aggressive support.

Clinical Presentation

History

• Prenatal: polyhydramnios, lack of stomach bubble, loops of intestine seen in the chest by ultrasound
• Respiratory distress may occur in the delivery room, and mild symptoms may delay the diagnosis.
• Patients are at high risk for pneumothorax with positive-pressure ventilation because of pulmonary hypoplasia.

Physical Examination

• Respiratory distress
• Decreased left-sided breath sounds (90% of hernias are left sided)
• Heart sounds shifted to right
• Scaphoid abdomen

Etiology

• Most cases are sporadic; an autosomal-recessive pattern has been described in recurrent cases.
• Approximately 40% are associated with chromosomal, genitourinary, renal, cardiac, or central nervous system anomalies.

Diagnosis

Differential Diagnosis

• Bronchogenic cyst
• Congenital lobar emphysema
• Cystic adenomatoid malformation
• Pneumothorax

Laboratory Tests

• Perform arterial blood gas determinations. The degree of hypercarbia is related to the severity of pulmonary hypoplasia.
• Perform evaluation of chromosomes if clinical suspicion exists.

Imaging Studies

• Obtain a chest radiograph.
• Abdominal ultrasound is warranted; stomach or liver herniation carries a worse prognosis.
• Echocardiography is used to evaluate degree of persistent pulmonary hypertension.
• Cardiac, genitourinary, renal, and central nervous system ultrasound scans are obtained if clinically indicated or before extracorporeal membrane oxygenation (ECMO).

Treatment

Nonpharmacologic Therapy

• If positive-pressure ventilation is required, make every effort to provide it through an endotracheal tube to minimize intestinal distention; place a nasogastric tube in the delivery room to decompress the stomach.
• Take steps to avoid persistent pulmonary hypertension of the newborn (PPHN). Maintain a thermoneutral environment; minimize stress; target normal pH, PaO2, and PaCO2; and avoid overdistention of the lungs. Consider high-frequency ventilation.
• Place the Replogle catheter on low, intermittent suction.
• Establish arterial and venous access.
• Surgical repair after the patient is stable (1 to 5 days, potentially while receiving ECMO).
• Fetal surgery was not shown to improve survival in a randomized trial. Gentle ventilation with physiologic tidal volumes appears to improve survival, but no randomized trial is available to confirm this approach.

Acute General Rx

• Maintain adequate oxygenation and ventilation while minimizing barotrauma and PPHN.
• Decompress the stomach before surgical repair.
• Use sedation.
• Use inhaled nitrous oxide to treat significant PPHN.
• Use bicarbonate as indicated to maintain normal acid-base status.

Chronic Rx

• Most patients have long-term gastroesophageal reflux and intestinal motility problems.
• Follow growth parameters closely for evidence of failure to thrive.
• If the infant survives the neonatal period, lung disease usually improves with time.
• Ongoing neurodevelopmental assessment is essential.
• Reherniation is a risk in the first few months.
• Have a low index of suspicion for volvulus with vomiting illness.

Disposition

• Follow the patient for chronic pulmonary hypertension and cor pulmonale.
• Optimize nutrition and monitor for failure to thrive after discharge.

Referral

• Obtain a prenatal consult with neonatology and pediatric surgery specialists.
• Plan delivery at a perinatal center with intensive care support services.

Pearls & Considerations

Comments

• Ninety percent of CDHs are left sided.
• Consider CDH in any infant with unexplained respiratory distress in the delivery room, especially those with scaphoid abdomen and decreased breath sounds on left.

Patient/Family Education

• Explain signs and symptoms of volvulus and the need for immediate intervention.
• Discuss intestinal motility and gastroesophageal reflux management.
• Review the recurrence risk (2%), and explain that CDH is sporadic in 98% of cases.

Suggested Readings

Children’s Hospital of Philadelphia. http://fetalsurgery.chop.edu/CDHintr7.shtml.

Emedicine Emedicine. www.emedicine.com/PED/topic2603.htm.

Glick PL, et al. New insights into the pathophysiology of CDH. Clin Perinatol. 1996;23:625.

Harrison MR, et al. A randomized trial of fetal endoscopic tracheal occlusion for severe fetal congenital diaphragmatic hernia. N Engl J Med. 2003;349:1916.

Ivascu FA, Hirschl RB. New approaches to managing congenital diaphragmatic hernia. Semin Perinatol. 2004;28:185.

Kays DW, et al. Detrimental effects of standard medical therapy in CDH. Ann Surg. 1999;230:340.

Texas Pediatric Surgical Associates. www.pedisurg.com/PtEduc/Congenital_Diaphragmatic_Hernia.htm.

[/level-membership-for-pediatrics-category][not-level-membership-for-pediatrics-category]

Congenital Diaphragmatic Hernia

Patricia R. Chess, MD

Basic Information

Definition

Congenital diaphragmatic hernia (CDH) is a diaphragmatic defect resulting from failure of the posterolateral portion of the diaphragm to develop, usually involving the foramen of Bochdalek, resulting in herniation of abdominal contents into the chest cavity. This leads to various degrees of pulmonary hypoplasia.

Synonyms

Congenital hernia of the diaphragm
D-hernia
Diaphragmatic hernia

ICD-9-CM Code

756.6 Congenital diaphragmatic hernia

Epidemiology & Demographics

• Prevalence is 1 case per 3000 live births.
• Most cases are sporadic.
• There is a 2% recurrence risk, and an autosomal recessive inheritance pattern usually is seen in recurrent cases.
• The mortality rate is up to 50%, even with aggressive support.

Clinical Presentation

History

• Prenatal: polyhydramnios, lack of stomach bubble, loops of intestine seen in the chest by ultrasound
• Respiratory distress may occur in the delivery room, and mild symptoms may delay the diagnosis.
• Patients are at high risk for pneumothorax with positive-pressure ventilation because of pulmonary hypoplasia.

Physical Examination

• Respiratory distress
• Decreased left-sided breath sounds (90% of hernias are left sided)
• Heart sounds shifted to right
• Scaphoid abdomen

Etiology

• Most cases are sporadic; an autosomal-recessive pattern has been described in recurrent cases.
• Approximately 40% are associated with chromosomal, genitourinary, renal, cardiac, or central nervous system anomalies.

Diagnosis

Differential Diagnosis

• Bronchogenic cyst
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