Pediatric Congenital Diaphragmatic Hernia Clinical Presentation

  • Author: Robin H Steinhorn, MD; Chief Editor: Ted Rosenkrantz, MD   more...
 
Updated: Oct 13, 2010
 

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 and may be associated with circulatory insufficiency, requiring aggressive resuscitative measures.

Next

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, signs of pneumothorax (poor air entry, poor perfusion) may also be found.

Associated anomalies occur in a relatively high percentage of infants. Dysmorphisms such as craniofacial, extremity abnormalities, or spinal dysraphism may suggest syndromic congenital diaphragmatic hernia.

Previous
Next

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.

The herniation of viscera in severe congenital diaphragmatic hernia is believed to occur 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 can be induced in rat models with administration of the herbicide 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.

Fetal exposure to nitrofen causes a variable amount of lung hypoplasia. The fact that only 60-90% of exposed rat pups demonstrate diaphragmatic defects suggests a “dual-hit” hypothesis, in which 2 insults (one primarily affecting the lungs and another primarily affecting diaphragm development) contribute to the pathophysiology of congenital diaphragmatic hernia.

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.

Deficiencies in vitamin A availability, metabolism, and signaling have been found to contribute to the development of congenital diaphragmatic hernia in animal models and may also be relevant in human fetal development.[7]

Previous
Proceed to Differential Diagnoses
 
 
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: Nothing to disclose.

Coauthor(s)

Nicolas FM Porta, MD, FAAP  Assistant Professor, Department of Pediatrics, Northwestern University, The Feinberg School of Medicine

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

Disclosure: United Therapeutics Consulting fee Consulting

Specialty Editor Board

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.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Pharmacy Editor, eMedicine

Disclosure: Nothing to disclose.

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.

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.

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. Sep-Oct 2009;52(5):281-6. [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. [Best Evidence] Keller RL, Tacy TA, Hendricks-Munoz K, et al. Congenital diaphragmatic hernia: endothelin-1, pulmonary hypertension, and disease severity. Am J Respir Crit Care Med. Aug 15 2010;182(4):555-61. [Medline]. [Full Text].

  7. Clugston RD, Zhang W, Alvarez S, De Lera AR, Greer JJ. Understanding Abnormal Retinoid Signaling as a Causative Mechanism in Congenital Diaphragmatic Hernia. Am J Respir Cell Mol Biol. May 15 2009;[Medline].

  8. 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].

  9. 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].

  10. 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].

  11. Fliman PJ, deRegnier RA, Kinsella JP, Reynolds M, Rankin LL, Steinhorn RH. Neonatal extracorporeal life support: impact of new therapies on survival. J Pediatr. May 2006;148(5):595-9. [Medline].

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

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

  14. 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].

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

  16. Keller RL. Antenatal and postnatal lung and vascular anatomic and functional studies in congenital diaphragmatic hernia: implications for clinical management. Am J Med Genet C Semin Med Genet. May 15 2007;145C(2):184-200. [Medline].

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

  18. 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].

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

  20. 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].

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

  22. 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].

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

  24. 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].

  25. Kapur P, Holm BA, Irish MS, Patel A, Glick PL. 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].

  26. 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].

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

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

  29. 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].

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

  31. Langham MR Jr, Kays DW, Ledbetter DJ, Frentzen B, Sanford LL, Richards DS. Congenital diaphragmatic hernia. Epidemiology and outcome. Clin Perinatol. Dec 1996;23(4):671-88. [Medline].

  32. 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].

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

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

  35. 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].

  36. 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].

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

  38. 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].

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

  40. 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].

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

  42. 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].

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

  44. Wilson JM, Lund DP, Lillehei CW, Vacanti JP. Congenital diaphragmatic hernia--a tale of two cities: the Boston experience. J Pediatr Surg. Mar 1997;32(3):401-5. [Medline].

 
Previous
Next
 
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.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.