eMedicine Specialties > Pediatrics: Cardiac Disease and Critical Care Medicine > Neonatology

Congenital Diaphragmatic Hernia

Author: Robin H Steinhorn, MD, Raymond and Hazel Speck Berry Professor of Pediatrics, Division Head of Neonatology, Associate Chair of Pediatrics, Northwestern University School of Medicine
Contributor Information and Disclosures

Updated: Jul 7, 2009

Introduction

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.1 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.2

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.3

Radiograph of a 1-day-old infant with a moderate-...

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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Radiograph of a 1-day-old infant with a moderate-...

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.

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.4

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 dysfunction 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.

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%.5 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.

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 and early pneumothorax.

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.

Clinical

History

  • As noted in Mortality/Morbidity, population-based studies show that congenital diaphragmatic hernia (CDH) is diagnosed based on prenatal ultrasonography findings in approximately one half of affected infants. Infants may have a prenatal history of polyhydramnios.
  • Infants 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, requiring aggressive resuscitative measures.

Physical

  • Infants frequently exhibit a scaphoid abdomen, barrel-shaped chest, and signs of respiratory distress (retractions, cyanosis, grunting respirations).
  • In left-sided posterolateral hernia, auscultation of the lungs reveals poor air entry on the left, with a shift of cardiac sounds over the right chest. In patients with severe defects, pneumothorax signs (poor air entry, poor perfusion) may also be found.

Causes

  • The diaphragm initially develops as a septum between the heart and liver, progresses posterolaterally, and closes at the left Bochdalek foramen at approximately 8-10 weeks' gestation. Congenital diaphragmatic hernia can be induced in rat models with administration of the toxin nitrofen. Studies in these models show that the diaphragmatic defect occurs in the initial stages of diaphragm development, rather than in the later stages.
  • The herniation of viscera in congenital diaphragmatic hernia usually occurs during the pseudoglandular stage of lung development. Lung compression results in pulmonary hypoplasia that is most severe on the ipsilateral side, although both lungs may be abnormal. Pulmonary hypoplasia is associated with fewer bronchial generations, alveoli, and arterial generations.
  • Congenital diaphragmatic hernia may occur as a nonsyndromic or isolated defect. Less than 2% of such cases are estimated to be familial. Pedigrees consistent with autosomal recessive, autosomal dominant, and X-linked inheritance patterns have been described.
  • More than 10% of infants with congenital diaphragmatic hernia have an underlying syndromic diagnosis, although few gene mutations are currently recognized. Congenital diaphragmatic hernia is a recognized finding of Cornelia de Lange syndrome, an autosomal dominant syndrome with characteristic facial features, hirsutism, and developmental delay. Fryns syndrome is an autosomal recessive condition that includes congenital diaphragmatic hernia as the cardinal feature, along with hypoplasia of the distal digits and other variable abnormalities of the brain, heart, and genitourinary development. An associated gene has not yet been identified, and the prognosis of Fryns syndrome is poor.
  • Chromosome abnormalities have been reported in as many as 30% of infants with congenital diaphragmatic hernia, which has been described as part of trisomy 13, trisomy 18, trisomy 21, and Turner syndrome (monosomy X). Pallister-Killian syndrome (tetrasomy 12p mosaicism) presents with findings that are similar to those of Fryns syndrome, including coarse facial features, aortic stenosis, cardiac septal defects, and abnormal genitalia. This diagnosis can only be made if a karyotype is determined based on skin biopsy findings.
  • Chromosome deletions on chromosomes 1q, 8p, and 15q have been reported in association with congenital diaphragmatic hernia. Deletions of chromosomes 8p and 15q appear to be associated with heart malformations.

More on Congenital Diaphragmatic Hernia

Overview: Congenital Diaphragmatic Hernia
Differential Diagnoses & Workup: Congenital Diaphragmatic Hernia
Treatment & Medication: Congenital Diaphragmatic Hernia
Follow-up: Congenital Diaphragmatic Hernia
Multimedia: Congenital Diaphragmatic Hernia
References
Further Reading
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References

  1. Gross RE. Congenital hernia of the diaphragm. Am J Dis Child. 1946;71:579-592.

  2. Areechon W, Reid L. Hypoplasia of the lung associated with congenital diaphragmatic hernia. Br Med J. 1963;i:230-3.

  3. Klaassens M, de Klein A, Tibboel D. The etiology of congenital diaphragmatic hernia: Still largely unknown?. Eur J Med Genet. May 21 2009;[Medline].

  4. Jandus P, Savioz D, Purek L, Frey JG, Schnyder JM, Tschopp JM. [Bochdalek hernia: a rare cause of dyspnea and abdominal pain in adults]. Rev Med Suisse. May 13 2009;5(203):1061-4. [Medline].

  5. Fisher JC, Haley MJ, Ruiz-Elizalde A, Stolar CJ, Arkovitz MS. Multivariate model for predicting recurrence in congenital diaphragmatic hernia. J Pediatr Surg. Jun 2009;44(6):1173-9; discussion 1179-80. [Medline].

  6. Bryner BS, West BT, Hirschl RB, et al. Congenital diaphragmatic hernia requiring extracorporeal membrane oxygenation: does timing of repair matter?. J Pediatr Surg. Jun 2009;44(6):1165-71; discussion 1171-2. [Medline].

  7. Deprest JA, Gratacos E, Nicolaides K, et al. Changing perspectives on the perinatal management of isolated congenital diaphragmatic hernia in Europe. Clin Perinatol. Jun 2009;36(2):329-47, ix. [Medline].

  8. Walsh-Sukys MC, Tyson JE, Wright LL, et al. Persistent pulmonary hypertension of the newborn in the era before nitric oxide: practice variation and outcomes. Pediatrics. Jan 2000;105(1 Pt 1):14-20. [Medline].

  9. Harrison MR, Keller RL, Hawgood SB, et al. A randomized trial of fetal endoscopic tracheal occlusion for severe fetalcongenital diaphragmatic hernia. N Engl J Med. Nov 13 2003;349(20):1916-24. [Medline].

  10. Jelin E, Lee H. Tracheal occlusion for fetal congenital diaphragmatic hernia: the US experience. Clin Perinatol. Jun 2009;36(2):349-61, ix. [Medline].

  11. Peetsold M, Huisman J, Hofman VE, Heij HA, Raat H, Gemke RJ. Psychological outcome and quality of life in children born with congenital diaphragmatic hernia. Arch Dis Child. Jun 15 2009;[Medline].

  12. Mitanchez D. [Neonatal prognosis of congenital diaphragmatic hernia.]. Arch Pediatr. Jun 2009;16(6):888-90. [Medline].

  13. [Guideline] Maisch B, Seferovic PM, Ristic AD, et al. Guidelines on the diagnosis and management of pericardial diseases. European Society of Cardiology. 2004.

  14. Albanese CT, Lopoo J, Goldstein RB, et al. Fetal liver position and perinatal outcome for congenital diaphragmatic hernia. Prenat Diagn. Nov 1998;18(11):1138-42. [Medline].

  15. Bohn DJ, Pearl R, Irish MS, Glick PL. Postnatal management of congenital diaphragmatic hernia. Clin Perinatol. Dec 1996;23(4):843-72. [Medline].

  16. Clark RH, Hardin WD Jr, Hirschl RB, et al. Current surgical management of congenital diaphragmatic hernia: a report from the Congenital Diaphragmatic Hernia Study Group. J Pediatr Surg. Jul 1998;33(7):1004-9. [Medline].

  17. Colvin J, Bower C, Dickinson JE, Sokol J. Outcomes of congenital diaphragmatic hernia: a population-based study in WesternAustralia. Pediatrics. Sep 2005;116(3):e356-63. [Medline]. [Full Text].

  18. Cortes RA, Keller RL, Townsend T, et al. Survival of severe congenital diaphragmatic hernia has morbid consequences. J Pediatr Surg. Jan 2005;40(1):36-45; discussion 45-6. [Medline].

  19. Finer NN, Tierney A, Etches PC, et al. Congenital diaphragmatic hernia: developing a protocolized approach. J Pediatr Surg. Sep 1998;33(9):1331-7. [Medline].

  20. Garred P, Madsen HO, Balslev U, et al. Susceptibility to HIV infection and progression of AIDS in relation to variant alleles of mannose-binding lectin. Lancet. Jan 25 1997;349(9047):236-40. [Medline].

  21. Kapur P, Holm BA, Irish MS, et al. Tracheal ligation and mechanical ventilation do not improve the antioxidant enzyme status in the lamb model of congenital diaphragmatic hernia. J Pediatr Surg. Feb 1999;34(2):270-2. [Medline].

  22. Kays DW, Langham MR Jr, Ledbetter DJ, Talbert JL. Detrimental effects of standard medical therapy in congenital diaphragmatic hernia. Ann Surg. Sep 1999;230(3):340-8; discussion 348-51. [Medline]. [Full Text].

  23. Kinsella JP, Parker TA, Ivy DD, Abman SH. Noninvasive delivery of inhaled nitric oxide therapy for late pulmonary hypertensionin newborn infants with congenital diaphragmatic hernia. J Pediatr. Apr 2003;142(4):397-401. [Medline].

  24. Lally KP. Extracorporeal membrane oxygenation in patients with congenital diaphragmatic hernia. Semin Pediatr Surg. Nov 1996;5(4):249-55. [Medline].

  25. Lally KP, Breaux CW Jr. A second course of extracorporeal membrane oxygenation in the neonate-- is there a benefit?. Surgery. Feb 1995;117(2):175-8. [Medline].

  26. Lally KP, Lally PA, Langham MR, et al. Surfactant does not improve survival rate in preterm infants with congenitaldiaphragmatic hernia. J Pediatr Surg. Jun 2004;39(6):829-33. [Medline].

  27. Langham MR Jr, Kays DW, Ledbetter DJ, et al. Congenital diaphragmatic hernia. Epidemiology and outcome. Clin Perinatol. Dec 1996;23(4):671-88. [Medline].

  28. NINOS. Inhaled nitric oxide and hypoxic respiratory failure in infants with congenital diaphragmatic hernia. The Neonatal Inhaled Nitric Oxide Study Group (NINOS). Pediatrics. Jun 1997;99(6):838-45. [Medline]. [Full Text].

  29. Nobuhara KK, Lund DP, Mitchell J, et al. Long-term outlook for survivors of congenital diaphragmatic hernia. Clin Perinatol. Dec 1996;23(4):873-87. [Medline].

  30. Nobuhara KK, Wilson JM. Pathophysiology of congenital diaphragmatic hernia. Semin Pediatr Surg. Nov 1996;5(4):234-42. [Medline].

  31. O'Toole SJ, Irish MS, Holm BA, Glick PL. Pulmonary vascular abnormalities in congenital diaphragmatic hernia. Clin Perinatol. Dec 1996;23(4):781-94. [Medline].

  32. Reickert CA, Hirschl RB, Atkinson JB, et al. Congenital diaphragmatic hernia survival and use of extracorporeal life support at selected level III nurseries with multimodality support. Surgery. Mar 1998;123(3):305-10. [Medline].

  33. Slavotinek AM. The genetics of congenital diaphragmatic hernia. Semin Perinatol. Apr 2005;29(2):77-85. [Medline].

  34. Stege G, Fenton A, Jaffray B. Nihilism in the 1990s: the true mortality of congenital diaphragmatic hernia. Pediatrics. Sep 2003;112(3 Pt 1):532-5. [Medline]. [Full Text].

  35. Steinhorn RH, Kriesmer PJ, Green TP, et al. Congenital diaphragmatic hernia in Minnesota. Impact of antenatal diagnosis on survival. Arch Pediatr Adolesc Med. Jun 1994;148(6):626-31. [Medline].

  36. Stolar CJ. What do survivors of congenital diaphragmatic hernia look like when they grow up?. Semin Pediatr Surg. Nov 1996;5(4):275-9. [Medline].

  37. Van Meurs K. Is surfactant therapy beneficial in the treatment of the term newborn infantwith congenital diaphragmatic hernia?. J Pediatr. Sep 2004;145(3):312-6. [Medline].

  38. Weinstein S, Stolar CJ. Newborn surgical emergencies. Congenital diaphragmatic hernia and extracorporeal membrane oxygenation. Pediatr Clin North Am. Dec 1993;40(6):1315-33. [Medline].

  39. Wilcox DT, Irish MS, Holm BA, Glick PL. Pulmonary parenchymal abnormalities in congenital diaphragmatic hernia. Clin Perinatol. Dec 1996;23(4):771-9. [Medline].

  40. Wilson JM, Lund DP, Lillehei CW, Vacanti JP. Congenital diaphragmatic hernia--a tale of two cities: the Boston experience. J Pediatr Surg. - Lillehei CW;32(3):401-5. [Medline].

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Keywords

congenital diaphragmatic hernia, CDH, Bochdalek hernia, posterolateral Bochdalek hernia, the anterior Morgagni hernia, hiatus hernia, pulmonary hypoplasia, pulmonary hypertension, cardiac maldevelopment, ventricular hypoplasia, Cornelia de Lange syndrome, Fryns syndrome, cleft lip, cleft palate, pneumothorax, polyhydramnios, respiratory distress, cyanosis, trisomy 13, trisomy 18, trisomy 21, Turner syndrome, Pallister-Killian syndrome, aortic stenosis, treatment, diagnosis

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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, Associate Chair of Pediatrics, Northwestern University School of Medicine
Robin H Steinhorn, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Heart Association, American Pediatric Society, American Thoracic Society, and Society for Pediatric Research
Disclosure: Ikaria (INO Therapeutics) Consulting fee Consulting

Medical Editor

David N Sheftel, MD, Director, Division of Neonatology, Clinical Associate Professor, Department of Pediatrics, Lutheran General Children's Hospital of Park Ridge, Chicago Medical School
David N Sheftel, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine and American Academy of Pediatrics
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Arun K Pramanik, MD, MBBS, Professor of Pediatrics, Director of Neonatal Fellowship, 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, and Southern Society for Pediatric Research
Disclosure: Nothing to disclose.

CME Editor

Carol L Wagner, MD, Professor of Pediatrics, Medical University of South Carolina
Carol L Wagner, MD is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American Medical Women's Association, American Public Health Association, American Society for Bone and Mineral Research, American Society for Clinical Nutrition, Massachusetts Medical Society, National Perinatal Association, and 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 Medical Association, American Pediatric Society, Connecticut State Medical Society, Eastern Society for Pediatric Research, and Society for Pediatric Research
Disclosure: Nothing to disclose.

 
 
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