Diaphragmatic hernia

Jump to: navigation, search


Diaphragmatic hernia
Peritoneopericardial diaphragmatic hernia.JPG
By Joel Mills - Own work, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=946353

Diaphragmatic hernia Main page

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Differentiating Diaphragmatic hernia from other Diseases

Epidemiology

Risk factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Radiological tests

Treatment

Medical treatment

Surgical treatment

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor(s)-in-Chief: Ahmed Younes M.B.B.CH [2] Mohammed Abdelwahed M.D[3]

Synonyms and Keywords: Congenital diaphragm hernia, Diaphragm hernia, Hernia through the diaphragm.

Overview

Diaphragmatic hernia is a congenital anomaly that occurs due to failure of the diaphragm to close leading to herniation of the abdominal content into the thoracic cavity leading to pulmonary hypoplasia. It most commonly presents in the neonates as respiratory distress. It is classified according to the site of herniation into anterior, posterolateral, and hiatal diaphragmatic hernia. It can cause complications in both the GIT and the cardiopulmonary circulation. It can be diagnosed antenatally in the week 24 and after birth, it is apparent on chest x-ray. The mainstay of treatment is surgical correction which must be done when the infant is completely stabilized.

Historical Perspective

  • In 1679, the first case of congenital diaphragmatic hernia was reported by Riverius.[1]
  • In 1888, the first procedure to repair congenital diaphragmatic hernia in an adult was done and in 1889, the first procedure on an infant was done.
  • In 1905, the first successful operation was done but the success rate remained below 60% until 1925.[2]
  • In 1940, A set of diagnostic criteria for diaphragmatic hernia were suggested.
  • In 1950, the transthoracic approach was suggested instead of the transabdominal approach.

Classification

Congenital diaphragmatic hernia can be classified into three types according to the site of herniation.[3][4]

Posterolateral (Bochdalek) diaphragmatic hernia

  • It is the most common subtype.
  • Most commonly occurs on the left side and rarely occurs bilaterally.

Anterior (Morgagni) diaphragmatic hernia

  • In anterior diaphragmatic hernia, the intestine bulges into the thorax through the anterior midline.
  • Most of the cases of anterior diaphragmatic hernia occur on the right side.

Hiatal hernia

Pathophysiology and embryogenesis

  • The herniated viscera decrease the area needed by the lung to develop appropriately.[9]
  • According to the degree of herniation, the degree of pulmonary hypoplasia is determined.
  • The herniated viscera impairs the development of the bronchial tree.
  • As a consequence, the alveoli development is also slowed.[10]
  • The development of the pulmonary artery tree is halted too resulting in excessive masculinization of the arteries.
  • The increased pulmonary pressure leads to increased pressure on the right ventricle leading to the development of a right to left shunt.
  • As most of the cases of diaphragmatic hernias are unilateral, the pulmonary hypoplasia is also usually unilateral, but it can be bilateral if the mediastinum is pushed by a massive unilateral hernia.
  • The abnormal alveolar development can lead to hypoxemia leading to pulmonary vasoconstriction which aggravates the condition.

Risk factors

Risk factors of diaphragmatic hernia include:[11]

Differentiating Diaphragmatic hernia from other Diseases

Congenital diaphragmatic hernia may be differentiated from other thoracic lesions:[14]

Congenital diaphragmatic hernia may be differentiated from other causes of pulmonary hypertension:

Epidemiology

Incidence

  • The incidence of congenital diaphragmatic hernia ranges from 50-150 per 100.000 live births.[15]

Prevalence

  • The prevalence of congenital diaphragmatic hernia ranges from 10 to 40 per live births.[16]

Sex

  • Congenital diaphragmatic hernia has no sex predilection.[16]

Age

  • 90% of the congenital diaphragmatic hernias present in the neonatal period.

Screening

  • According to USPSTF, there is no screening recommended for diaphragmatic hernia. The recurrence risk for multiple congenital anomalies of unknown etiology is considered to be <5 percent. [41]
  • Referral to a genetic counselor can be useful for thorough genetic evaluation and counseling.
  • Microarray-based comparative genomic hybridization is a powerful tool for detection of submicroscopic chromosomal abnormalities.

Natural history, complications and prognosis

Natural history

  • 90% of the cases of congenital diaphragmatic hernia presents in the neonatal period.
  • If left untreated, congenital diaphragmatic hernia can be fatal due to pulmonary hypoplasia and severe pulmonary hypertension.

Complications

GI complications[17]

Cardiopulmonary complications[17]

Prognosis

  • The prognosis is mainly dependent on the size of the defect and the degree of the herniation.[18]
  • The presence or absence of liver herniation on fetal MRI is the most reliable prediction of the postnatal survival.
  • The estimation of fetal lung volume and lung area to head circumference is a useful indicator of the prognosis of the disease in the absence of liver herniation.
  • The mortality ranges from 25-60% of the cases.

History and Symptoms

CDH most often presents in the neonatal period as:[19]


Physical Examination

General appearance

  • A neonate with CDH usually appears cyanotic and in acute distress.[21]

Vital signs

Lungs

  • The chest may have a barrel shape.
  • Absent breath sounds at the side of the hernia[22]
  • Peristaltic sounds in the chest

Heart

  • The heart sounds may be displaced to the other side of the chest.
  • The heart sounds may reveal the murmurs of associated cardiac anomalies.

Abdomen

  • The abdomen is scaphoid due to herniation of the abdominal content into the thoracic cavity.

Laboratory Findings

Antenatal tests

Postnatal tests

Radiological tests

Antenatal ultrasound

  • CDH can be diagnosed in the 24th week.[25]
  • In addition to the hernia, ultrasound can show polyhydramnios and absence of the gastric air bubble
  • Left sided CDH is far more common than right sided CDH, while bilateral CDH is rare.
  • The presence of liver herniation is associated with worse prognosis and survival.
  • The estimation of lung area to head circumference ratio can give an idea about the prognosis (especially if there is no liver herniation). The lower the ratio, the worse the prognosis.
Coronal ultrasound showing herniation of the abdominal content into the thorax and displacement of the herat to the right - Case courtesy of Dr Laughlin Dawes , Radiopaedia.org, rID: 36006

Chest x-ray

  • Bowel loops in the thoracic cavity (can be further demonstrated through placement of a feeding tube)
  • Shifting of the mediastinum to the contralateral side
Anteroposterior x-ray showing herniation of the intestine into the thorax and shifting of the mediastinum to the right - Case courtesy of Dr Mohd Imran, Radiopaedia.org, rID: 7392

Echocardiography

  • Echocardiography must be done to exclude associated cardiac anomalies and to exclude the presence of an associated ventricular strain from the pressure.

Medical treatment

Criteria for mechanical ventilation:

  • Pressure-limited ventilation at rates of 30 to 70 breaths per minute
  • Positive end-expiratory pressure (PEEP) should be maintained at physiologic levels (3 to 5 cm H2O) whenever possible.
  • High-frequency ventilation (HFV) is reserved for neonates who continue to have hypoxia and hypercarbia (PaCO2 >65 mmHg) refractory to CMV.

Antenatal glucocorticoids

Antenatal glucocorticoids improve the survival by increasing the secretion of surfactant and thus stimulating lung maturation and preventing severe pulmonary hypoplasia.[3]

Preoperative stabilization

  • Preoperative stabilization of the patient is important as performing the operation in an unstable infant is associated with higher morbidity and mortality rates.

Preoperative stabilization measures include:[26]

Extracorporeal membrane oxygenation (ECMO): It is used as the last resort in patients resistant to all the conventional methods of ventilation.

Indications for ECMO:

  • Inability to maintain preductal PaOsaturations >85 percent or postductal PaO2 >30 mmHg
  • PIP >28 cm H2O or mean airway pressure (MAP) >15 cm H2O
  • Hypotension that is resistant to fluid and inotropic support
  • Inadequate oxygen delivery with persistent metabolic acidosis

Inclusion criteria for ECMO, including in our center, also include all of the following:[27]

  • Birth weight (BW) >2 kg
  • Gestational age (GA) >34 weeks
  • Absence of intracranial hemorrhage greater than grade I
  • Absence of chromosomal anomalies

Surgical treatment

  • The procedure must not be done unless the infant is stable.[28]
  • Most of the operations are done through a subcostal incision.
  • The repair can be done in one of two ways depending on its size:[18]
    • Primary closure: it involves repairing the defect using non-absorbable sutures. It is used if the defect is relatively small.
    • Patch closure: using a prosthetic or fascial patch to close the defect. It is useful especially with large defects but increases the risk of infection.
  • Endoscopic procedures through the thorax or the abdomen have been reported to have lower mortality rates but have higher recurrence rates.[21]
  • If CDH repair is associated with an abdominal wall defect, silo closure may be tried temporarily until the CDH is stabilized.[29]

Refrences

  1. Irish MS, Holm BA, Glick PL (1996). "Congenital diaphragmatic hernia. A historical review.". Clin Perinatol. 23 (4): 625–53. PMID 8982561. 
  2. Irish MS, Holm BA, Glick PL (1996). "Congenital diaphragmatic hernia. A historical review.". Clin Perinatol. 23 (4): 625–53. PMID 8982561. 
  3. 3.0 3.1 Badillo A, Gingalewski C (2014). "Congenital diaphragmatic hernia: treatment and outcomes". Semin. Perinatol. 38 (2): 92–6. PMID 24580764. doi:10.1053/j.semperi.2013.11.005. 
  4. Schumacher L, Gilbert S (2009). "Congenital diaphragmatic hernia in the adult". Thorac Surg Clin. 19 (4): 469–72. PMID 20112629. doi:10.1016/j.thorsurg.2009.08.004. 
  5. DiFiore JW, Fauza DO, Slavin R, Wilson JM (1995). "Experimental fetal tracheal ligation and congenital diaphragmatic hernia: a pulmonary vascular morphometric analysis.". J Pediatr Surg. 30 (7): 917–23; discussion 923–4. PMID 7472945. 
  6. Bielinska M, Jay PY, Erlich JM, Mannisto S, Urban Z, Heikinheimo M; et al. (2007). "Molecular genetics of congenital diaphragmatic defects.". Ann Med. 39 (4): 261–74. PMC 2174621Freely accessible. PMID 17558598. doi:10.1080/07853890701326883. 
  7. Mishalany H, Gordo J (1986). "Congenital diaphragmatic hernia in monozygotic twins.". J Pediatr Surg. 21 (4): 372–4. PMID 3701555. 
  8. Lurie IW (2003). "Where to look for the genes related to diaphragmatic hernia?". Genet Couns. 14 (1): 75–93. PMID 12725592. 
  9. Langham MR, Kays DW, Ledbetter DJ, Frentzen B, Sanford LL, Richards DS (1996). "Congenital diaphragmatic hernia. Epidemiology and outcome". Clin Perinatol. 23 (4): 671–88. PMID 8982563. 
  10. Keijzer R, Puri P (2010). "Congenital diaphragmatic hernia". Semin. Pediatr. Surg. 19 (3): 180–5. PMID 20610190. doi:10.1053/j.sempedsurg.2010.03.001. 
  11. Cullen ML, Klein MD, Philippart AI (1985). "Congenital diaphragmatic hernia". Surg. Clin. North Am. 65 (5): 1115–38. PMID 3904042. 
  12. See AW, Kaiser ME, White JC, Clagett-Dame M (2008). "A nutritional model of late embryonic vitamin A deficiency produces defects in organogenesis at a high penetrance and reveals new roles for the vitamin in skeletal development.". Dev Biol. 316 (2): 171–90. PMID 18321479. doi:10.1016/j.ydbio.2007.10.018. 
  13. Enns GM, Cox VA, Goldstein RB, Gibbs DL, Harrison MR, Golabi M (1998). "Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: a retrospective study of 60 patients and literature review.". Am J Med Genet. 79 (3): 215–25. PMID 9788565. 
  14. Lurie IW (2003). "Where to look for the genes related to diaphragmatic hernia?". Genet Couns. 14 (1): 75–93. PMID 12725592. 
  15. Fisher JC, Haley MJ, Ruiz-Elizalde A, Stolar CJ, Arkovitz MS (2009). "Multivariate model for predicting recurrence in congenital diaphragmatic hernia". J. Pediatr. Surg. 44 (6): 1173–9; discussion 1179–80. PMC 3072822Freely accessible. PMID 19524735. doi:10.1016/j.jpedsurg.2009.02.043. 
  16. 16.0 16.1 McGivern MR, Best KE, Rankin J, Wellesley D, Greenlees R, Addor MC, Arriola L, de Walle H, Barisic I, Beres J, Bianchi F, Calzolari E, Doray B, Draper ES, Garne E, Gatt M, Haeusler M, Khoshnood B, Klungsoyr K, Latos-Bielenska A, O'Mahony M, Braz P, McDonnell B, Mullaney C, Nelen V, Queisser-Luft A, Randrianaivo H, Rissmann A, Rounding C, Sipek A, Thompson R, Tucker D, Wertelecki W, Martos C (2015). "Epidemiology of congenital diaphragmatic hernia in Europe: a register-based study". Arch. Dis. Child. Fetal Neonatal Ed. 100 (2): F137–44. PMID 25411443. doi:10.1136/archdischild-2014-306174. 
  17. 17.0 17.1 Tovar JA (2012). "Congenital diaphragmatic hernia". Orphanet J Rare Dis. 7: 1. PMC 3261088Freely accessible. PMID 22214468. doi:10.1186/1750-1172-7-1. 
  18. 18.0 18.1 Chandrasekharan PK, Rawat M, Madappa R, Rothstein DH, Lakshminrusimha S (2017). "Congenital Diaphragmatic hernia - a review". Matern Health Neonatol Perinatol. 3: 6. PMC 5356475Freely accessible. PMID 28331629. doi:10.1186/s40748-017-0045-1. 
  19. Kotecha S, Barbato A, Bush A, Claus F, Davenport M, Delacourt C, Deprest J, Eber E, Frenckner B, Greenough A, Nicholson AG, Antón-Pacheco JL, Midulla F (2012). "Congenital diaphragmatic hernia". Eur. Respir. J. 39 (4): 820–9. PMID 22034651. doi:10.1183/09031936.00066511. 
  20. Peetsold MG, Kneepkens CM, Heij HA, IJsselstijn H, Tibboel D, Gemke RJ (2010). "Congenital diaphragmatic hernia: long-term risk of gastroesophageal reflux disease". J. Pediatr. Gastroenterol. Nutr. 51 (4): 448–53. PMID 20512059. doi:10.1097/MPG.0b013e3181d1b149. 
  21. 21.0 21.1 Haroon J, Chamberlain RS (2013). "An evidence-based review of the current treatment of congenital diaphragmatic hernia". Clin Pediatr (Phila). 52 (2): 115–24. PMID 23378478. doi:10.1177/0009922812472249. 
  22. Lund DP, Mitchell J, Kharasch V, Quigley S, Kuehn M, Wilson JM (1994). "Congenital diaphragmatic hernia: the hidden morbidity". J. Pediatr. Surg. 29 (2): 258–62; discussion 262–4. PMID 8176602. 
  23. McHoney M (2015). "Congenital diaphragmatic hernia, management in the newborn". Pediatr. Surg. Int. 31 (11): 1005–13. PMID 26403792. doi:10.1007/s00383-015-3794-9. 
  24. Lally KP, Paranka MS, Roden J, Georgeson KE, Wilson JM, Lillehei CW, Breaux CW, Poon M, Clark RH, Atkinson JB (1992). "Congenital diaphragmatic hernia. Stabilization and repair on ECMO". Ann. Surg. 216 (5): 569–73. PMC 1242675Freely accessible. PMID 1444648. 
  25. Waag KL, Loff S, Zahn K, Ali M, Hien S, Kratz M, Neff W, Schaffelder R, Schaible T (2008). "Congenital diaphragmatic hernia: a modern day approach". Semin. Pediatr. Surg. 17 (4): 244–54. PMID 19019293. doi:10.1053/j.sempedsurg.2008.07.009. 
  26. 26.0 26.1 Kesieme EB, Kesieme CN (2011). "Congenital diaphragmatic hernia: review of current concept in surgical management". ISRN Surg. 2011: 974041. PMC 3251163Freely accessible. PMID 22229104. doi:10.5402/2011/974041. 
  27. Lally KP (1996). "Extracorporeal membrane oxygenation in patients with congenital diaphragmatic hernia.". Semin Pediatr Surg. 5 (4): 249–55. PMID 8936654. 
  28. Clark RH, Hardin WD, Hirschl RB, Jaksic T, Lally KP, Langham MR, Wilson JM (1998). "Current surgical management of congenital diaphragmatic hernia: a report from the Congenital Diaphragmatic Hernia Study Group". J. Pediatr. Surg. 33 (7): 1004–9. PMID 9694085. 
  29. Shue EH, Miniati D, Lee H (2012). "Advances in prenatal diagnosis and treatment of congenital diaphragmatic hernia". Clin Perinatol. 39 (2): 289–300. PMID 22682380. doi:10.1016/j.clp.2012.04.005. 

Linked-in.jpg