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Pediatric Congenital Diaphragmatic Hernia

  • Author: Robin H Steinhorn, MD; Chief Editor: Ted Rosenkrantz, MD  more...
 
Updated: Apr 25, 2014
 

Practice Essentials

Congenital diaphragmatic hernia (see the image below) is characterized by a variable degree of pulmonary hypoplasia associated with a decrease in cross-sectional area of the pulmonary vasculature and alterations of the surfactant system. There are 3 basic types of congenital diaphragmatic hernia: the posterolateral Bochdalek hernia (occurring at approximately 6 weeks' gestation), the anterior Morgagni hernia, and the hiatus hernia.

Radiograph of a 1-day-old infant with a moderate-s Radiograph of a 1-day-old infant with a moderate-sized congenital diaphragmatic hernia (CDH). Note the air- and fluid-filled bowel loops in the left chest, the moderate shift of the mediastinum into the right chest, and the position of the orogastric tube.

Signs and symptoms

Infants with congenital diaphragmatic hernias most commonly present with respiratory distress and cyanosis in the first minutes or hours of life, although a later presentation is possible. The respiratory distress can be severe and may be associated with circulatory insufficiency, requiring aggressive resuscitative measures.

See Clinical Presentation for more detail.

Diagnosis

Examination in infants with congenital diaphragmatic hernias include the following findings:

  • Scaphoid abdomen
  • Barrel-shaped chest
  • Respiratory distress (retractions, cyanosis, grunting respirations)
  • In left-sided posterolateral hernia: Poor air entry on the left, with a shift of cardiac sounds over the right chest; in patients with severe defects, signs of pneumothorax (poor air entry, poor perfusion) may also be found
  • Associated anomalies: Dysmorphisms such as craniofacial abnormalities, extremity abnormalities, or spinal dysraphism may suggest syndromic congenital diaphragmatic hernia

Laboratory tests

Laboratory studies that may be indicated in congenital diaphragmatic hernia include the following:

  • Arterial blood gas (ABG) measurements: To assess for pH, PaCO 2, and PaO 2
  • Serum lactate: May be helpful for assessing for circulatory insufficiency or severe hypoxemia associated with tissue hypoxia
  • Chromosome studies, including microarray analysis
  • levels of serum electrolytes, ionized calcium, and glucose

Continuous pulse oximetry is valuable in the diagnosis and management of persistent pulmonary hypertension of the newborn.

Imaging studies

The following radiologic studies may be used to evaluate congenital diaphragmatic hernia:

  • Chest radiography: To confirm diagnosis of congenital diaphragmatic hernia and to rule out pneumothorax
  • Cardiac ultrasonography: To rule out cardiac anomalies
  • Echocardiography: To assess myocardial function and determine whether left ventricular mass is significantly decreased
  • Renal ultrasonography: To rule out genitourinary anomalies
  • Cranial magnetic resonance imaging: When considering extracorporeal support to evaluate for intraventricular bleeding and hypoxic-ischemic changes, as well as to rule out major intracranial anomalies
  • Cranial sonography: When an infant is considered for extracorporeal support

Procedures

  • Endotracheal intubation and mechanical ventilation: Required in all infants with severe congenital diaphragmatic hernia who present in the first hours of life
  • Placement of an indwelling catheter in the umbilical artery or in a peripheral artery (radial, posterior tibial): For continuous blood pressure and frequent ABG monitoring
  • Placement of a venous catheter via the umbilical vein: To allow for administration of inotropic agents and hypertonic solutions (eg, calcium gluconate)
  • Venoarterial or venovenous extracorporeal membrane oxygenation (ECMO) support
  • Biopsy may be needed for rare chromosomal disorders that can be diagnosed only based on skin biopsy findings

See Workup for more detail.

Management

Medical therapy in patients with congenital diaphragmatic hernia is directed toward optimizing oxygenation while avoiding barotrauma.[1] Management includes the following:

  • Placement of a vented orogastric tube and connecting it to continuous suction to prevent bowel distention and further lung compression
  • Avoiding mask ventilation and immediately intubating the trachea
  • Avoiding high peak inspiratory pressures with mechanical ventilation; synchronizing ventilation with the infant's respiratory effort
  • Continuous monitoring of oxygenation, blood pressure, and perfusion
  • Maintaining glucose and ionized calcium concentrations within reference range

Surgery

Fetal surgical intervention (fetal repair, fetal tracheal occlusion) for congenital diaphragmatic hernia may not improve survival compared with standard therapy.[2, 3] Postnatal procedures include the following:

  • Reduction of the herniated viscera and closure of the diaphragmatic defect
  • Chest tube drainage in the presence of a tension pneumothorax
  • Transplantation of a single lung (single case report)

The ideal time to repair a congenital diaphragmatic hernia is unknown. Some authors suggest that repair 24 hours after stabilization is ideal, but delays of up to 7-10 days are typically well tolerated, and many surgeons now adopt this approach. Other surgeons prefer to operate on these neonates when normal pulmonary artery pressure is maintained for at least 24-48 hours based on echocardiography.

Pharmacotherapy

The following medications may be used to help stabilize blood pressure and circulating volume, alleviate pulmonary distress, and/or correct hypoxemia in infants with congenital diaphragmatic hernia:

  • Vasoactive agents (eg, dopamine, dobutamine, milrinone)
  • Opioid analgesics (eg, fentanyl)
  • Neuromuscular relaxing agents (eg, pancuronium, vecuronium)
  • Pulmonary vasodilating agents (eg, nitric oxide)

See Treatment and Medication for more detail.

Next

Background

The topic of congenital diaphragmatic hernia (CDH) has frequently appeared in the medical literature since its first description in the early 18th century. Initial theories about the pathophysiology of this condition centered on the presence of the herniated viscera within the chest and the need for its prompt removal.

In 1946, Gross reported the first successful repair of a neonatal diaphragmatic hernia in the first 24 hours of life.[4] The medical literature for the next decade addressed congenital diaphragmatic hernia as a surgical problem and discussed various technical aspects of surgical repair, including techniques required to close large defects. In the 1960s, however, Areechon and Reid observed that the high mortality rate of congenital diaphragmatic hernia was related to the degree of pulmonary hypoplasia at birth.[5]

Over the past 20 years, pulmonary hypertension and pulmonary hypoplasia have been recognized as the 2 cornerstones of the pathophysiology of congenital diaphragmatic hernia. In recent years, evidence suggests that cardiac maldevelopment may further complicate the pathophysiology of congenital diaphragmatic hernia.[6] See the image below.

Radiograph of a 1-day-old infant with a moderate-s Radiograph of a 1-day-old infant with a moderate-sized congenital diaphragmatic hernia (CDH). Note the air- and fluid-filled bowel loops in the left chest, the moderate shift of the mediastinum into the right chest, and the position of the orogastric tube.
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Pathophysiology

The 3 basic types of congenital diaphragmatic hernia include the posterolateral Bochdalek hernia (occurring at approximately 6 weeks' gestation), the anterior Morgagni hernia, and the hiatus hernia. The left-sided Bochdalek hernia occurs in approximately 85% of cases. Left-sided hernias allow herniation of both the small and large bowel and intraabdominal solid organs into the thoracic cavity. In right-sided hernias (13% of cases), only the liver and a portion of the large bowel tend to herniate. Bilateral hernias are uncommon and are usually fatal.[7]

Congenital diaphragmatic hernia is characterized by a variable degree of pulmonary hypoplasia associated with a decrease in cross-sectional area of the pulmonary vasculature and alterations of the surfactant system. The lungs have a small alveolar capillary membrane for gas exchange, which may be further decreased by surfactant dysfunction. In addition to parenchymal disease, increased muscularization of the intraacinar pulmonary arteries appears to occur. In very severe cases, left ventricular hypoplasia is observed. Pulmonary capillary blood flow is decreased because of the small cross-sectional area of the pulmonary vascular bed, and flow may be further decreased by abnormal pulmonary vasoconstriction.

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Frequency

International

Congenital diaphragmatic hernia occurs in 1 of every 2000-3000 live births and accounts for 8% of all major congenital anomalies. The risk of recurrence of isolated (ie, nonsyndromic) congenital diaphragmatic hernia in future siblings is approximately 2%.[8] Familial congenital diaphragmatic hernia is rare (< 2% of all cases), and both autosomal recessive and autosomal dominant patterns of inheritance have been reported. Congenital diaphragmatic hernia is a recognized finding in Cornelia de Lange syndrome and also occurs as a prominent feature of Fryns syndrome, an autosomal recessive disorder with variable features, including diaphragmatic hernia, cleft lip or palate, and distal digital hypoplasia.

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Mortality/Morbidity

Mortality has traditionally been difficult to determine. This is partially because of the "hidden mortality" for this condition, which refers to infants with congenital diaphragmatic hernia who die in utero or shortly after birth, prior to transfer to a surgical site. This bias may be especially important when evaluating institutional reports of outcome.

A population-based study from Western Australia indicated that only 61% of infants with congenital diaphragmatic hernia are live born. In that study, nearly 33% of pregnancies that involved a fetus with congenital diaphragmatic hernia were electively terminated. Most of the pregnancies (71%) were terminated because of the presence of another major anomaly.

Mortality after live birth is generally reported to range from 40-62%, and some authors argue that the true mortality of congenital diaphragmatic hernia has not changed with introduction of new therapies. The presence of associated anomalies has consistently been associated with decreased survival; other associations with poor outcome include prenatal diagnosis, prematurity, low birth weight, and early pneumothorax.

Keller et al found that infants with congenital diaphragmatic hernia who have poor outcomes (death or discharge on oxygen) have higher plasma levels of endothelin-1, which is dysregulated in pulmonary hypertension.[9] Severity of pulmonary hypertension was also associated with increasing endothelin-1 levels.

Sex

Most studies report that congenital diaphragmatic hernia occurs equally in males and females.

Age

Although congenital diaphragmatic hernia is usually a disorder of the newborn period, as many as 10% of patients may present after the newborn period and even during adulthood. Outcome in patients with late presentation of congenital diaphragmatic hernia is extremely good, with low or no mortality.

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Contributor Information and Disclosures
Author

Robin H Steinhorn, MD Raymond and Hazel Speck Berry Professor of Pediatrics, Division Head of Neonatology, Vice Chair of Pediatrics, Northwestern University, The Feinberg School of Medicine

Robin H Steinhorn, MD is a member of the following medical societies: Alpha Omega Alpha, American Pediatric Society, American Academy of Pediatrics, American Heart Association, American Thoracic Society, Society for Pediatric Research

Disclosure: Nothing to disclose.

Coauthor(s)

Nicolas FM Porta, MD Associate Professor, Department of Pediatrics, Northwestern University, The Feinberg School of Medicine; Attending Physician in Neonatalogy, Co-Director, Pediatric Pulmonary Hypertension Program, Ann and Robert H Lurie Children's Hospital of Chicago; Medical Staff, Prentice Women's Hospital-Northwestern Memorial Hospital

Nicolas FM Porta, MD is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Received consulting fee for participating in a clinical study steering committee. for: United Therapeutics.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Arun K Pramanik, MD, MBBS Professor of Pediatrics, Louisiana State University Health Sciences Center

Arun K Pramanik, MD, MBBS is a member of the following medical societies: American Academy of Pediatrics, American Thoracic Society, National Perinatal Association, Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

Chief Editor

Ted Rosenkrantz, MD Professor, Departments of Pediatrics and Obstetrics/Gynecology, Division of Neonatal-Perinatal Medicine, University of Connecticut School of Medicine

Ted Rosenkrantz, MD is a member of the following medical societies: American Academy of Pediatrics, American Pediatric Society, Eastern Society for Pediatric Research, American Medical Association, Connecticut State Medical Society, Society for Pediatric Research

Disclosure: Nothing to disclose.

Additional Contributors

David N Sheftel, MD, MD Assistant Professor of Pediatrics, Chicago Medical School at Rosalind Franklin University of Medicine and Science

David N Sheftel, MD, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics

Disclosure: Nothing to disclose.

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Radiograph of a 1-day-old infant with a moderate-sized congenital diaphragmatic hernia (CDH). Note the air- and fluid-filled bowel loops in the left chest, the moderate shift of the mediastinum into the right chest, and the position of the orogastric tube.
 
 
 
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