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Congenital Diaphragmatic Hernia


Congenital diaphragmatic hernia is an abnormality present from birth and is characterized by protrusion of abdominal organs into the thorax due to incomplete development of the diaphragm. As a result, the lungs of neonates are under significant pressure and pulmonary hypoplasia with hypertension are some of the most important complications that put the patient at risk soon after birth. Because both respiratory and gastrointestinal distress can occur, an early diagnosis is pivotal. A physical examination coupled with ultrasonography (either antenatal or postnatal) are the critical components of the workup.


The features of a congenital diaphragmatic hernia arise due to compression of the respiratory system by the protruding abdominal organs into the thorax [1] [2] [3]. Although the exact pathogenesis model remains to be elucidated, it is suspected that incomplete muscularization of the diaphragm promotes the formation of hernias, and approximately half of all neonates have isolated congenital diaphragmatic hernia without additional genetic malformations [1]. The compressive effects of abdominal contents on the lungs eventually lead to pulmonary hypoplasia and the development of pulmonary hypertension [1] [2] [4]. These pathological events predispose neonates to respiratory (but also gastrointestinal) distress, which can be life-threatening in the absence of an early diagnosis [1] [2] [3] [4]. Typical signs include displacement of heart sounds to the contralateral side, protrusion of the sternum with a characteristic "scaphoid abdomen" (as the organs move into the chest), abdominal pain due to intestinal obstruction, and either absence or markedly reduced respiratory bruits [1] [2] [3]. The most common clinical presentation, however, is severe respiratory insufficiency, often confirmed by low Apgar scores [2] [3]. Some individuals may be asymptomatic in the neonatal period and develop bouts of respiratory distress in later life, whereas congenital diaphragmatic hernia can be incidentally diagnosed as well [2].

Foreign Body Aspiration
  • The acute presentation of respiratory distress was initially concerning for a foreign body aspiration, but a chest radiograph demonstrated left-sided opacification and mediastinal shift to the right.[ncbi.nlm.nih.gov]
  • We report a 10-year-old male who presented with coughing, blood-stained sputum, and fever. He was diagnosed with CDH complicating hypersplenism after computed tomography was done.[ncbi.nlm.nih.gov]
Left Upper Quadrant Pain
  • The patient presented initially with severe left upper quadrant pain. Her chest x-ray on admission suggested a raised left hemidiaphragm.[ncbi.nlm.nih.gov]


The diagnosis of a congenital diaphragmatic hernia must be made as soon as possible. Postnatal signs of respiratory distress, low Apgar scores, diminished heart sounds, and the typical appearance of the abdomen are findings that must raise suspicion towards congenital diaphragmatic hernia. Thus, the physician plays a crucial role when performing a physical examination after birth. Arterial blood gas (ABG) analysis and pH levels are needed to assess the extent of impaired oxygenation [2]. To confirm the diagnosis, imaging modalities must be used. Ultrasonography has become the gold standard for detecting diaphragmatic and several other anomalies and should be performed whenever sufficient evidence is gathered [1] [2] [3] [6]. More importantly, antenatal ultrasonography, which is readily used throughout pregnancy, has shown to be quite successful in recognizing this congenital anomaly as early as 24 weeks of gestation [3] [5] [6]. Herniation of the intestines and/or the liver into the thorax, a displaced gall bladder, smaller lungs, and polyhydramnios are prominent findings [2]. Additional imaging studies that can be used are plain radiography of the chest and abdomen, as well as fetal magnetic resonance imaging (MRI), which is highly useful if ultrasonography results are inconclusive [1] [3] [6].

Left Pleural Effusion
  • We report a case of an iatrogenic congenital diaphragmatic hernia (CDH) following left pleuroamniotic shunting at 20 weeks gestation for severe left pleural effusion.[ncbi.nlm.nih.gov]


  • Diaphragmatic hernia recurrence was strongest associated with ECMO treatment in combination with patch repair, while SBO's were associated with patch repair, with an unexpected protective effect of ECMO treatment.[ncbi.nlm.nih.gov]
  • CONCLUSION: AI is prevalent amongst patients with CDH, but prolonged treatment with HC may increase risk of mortality and sepsis.[ncbi.nlm.nih.gov]
  • However, controversy remains regarding the best treatment of CDH.[ncbi.nlm.nih.gov]
  • LHR lower than 1 as associated with high mortality is an indication for prenatal treatment involving occlusion of fetal trachea. Before such treatment other congenital malformations must be excluded.[ncbi.nlm.nih.gov]
  • Prior to treatment, the pre- and post-ductal SpO2 difference (Δ SpO2) was 14 10%. Treprostinil was initiated at a median age of 12days [5-157].[ncbi.nlm.nih.gov]


  • In the CDH group, especially in the poor prognosis group, LLSIR did not significantly increase as pregnancy progressed [regression line for good prognosis   1.827   0.092   (gestational week-23), r   0.733; regression line for poor prognosis   1.731   [ncbi.nlm.nih.gov]
  • The prognosis of congenital intrathoracic stomach associated with serpentine-like syndrome is extremely poor compared to the prognosis of isolated CDH.[ncbi.nlm.nih.gov]
  • CONCLUSIONS: Decrease in LVEDD and presence of PH are associated with poor prognosis. Also, PH was associated with mortality in CDH patients.[ncbi.nlm.nih.gov]
  • INTRODUCTION: Congenital diaphragmatic hernia (CDH) has a well-known risk of congenital heart defects with poor prognosis.[ncbi.nlm.nih.gov]
  • Prognosis was related to specific clinical findings within each etiologic group (e.g., prematurity, low Apgar score, and intrathoracic liver).[ncbi.nlm.nih.gov]


  • Overall infant mortality was 32.5%, and varied considerably by underlying etiology (isolated 21%; multiple 44%; syndromic 82%).[ncbi.nlm.nih.gov]
  • , Right/diagnostic imaging Ventricular Dysfunction, Right/etiology* Ventricular Dysfunction, Right/therapy[ncbi.nlm.nih.gov]
  • There is much research related to elucidating the etiology of CDH and developing management strategies to improve the outcomes in these infants.[ncbi.nlm.nih.gov]
  • Recent identification of PIGN mutations associated with several cases of Fryns syndrome point to a common pathogenetic etiology involving inborn errors of the glycosylphosphatidylinositiol anchor biosynthetic pathway.[ncbi.nlm.nih.gov]
  • These results also suggest that ES should be considered in the diagnostic evaluation of individuals and families with CDH, particularly when other diagnostic modalities have failed to reveal a molecular etiology.[ncbi.nlm.nih.gov]


  • We did a comprehensive review of research trends, evidence based studies and epidemiologic studies. CDH is a life-threatening pathology in infants, and a major cause of death due to the pulmonary hypoplasia and pulmonary hypertension.[ncbi.nlm.nih.gov]
  • Summary Epidemiology CDH is a rare condition occuring in 1-5/10,000 births. Clinical description Newborns display respiratory distress with hypoxia, excavated abdomen with sternal protrusion and in severe cases low APGAR scores at 1 and 5 minutes.[orpha.net]
  • Author information 1 National Perinatal Epidemiology Unit, University of Oxford, Oxford, UK. 2 Academic Department of Paediatric Surgery, Alder Hey Children's Hospital, Liverpool, UK. 3 Institute of Child Health, University of Liverpool, Liverpool, UK[ncbi.nlm.nih.gov]
  • Epidemiology and Etiology A relatively common birth defect, CDH is estimated to occur once in every … View Full Text Log in using your username and password Log in through your institution You may be able to gain access using your login credentials for[neoreviews.aappublications.org]
Sex distribution
Age distribution


  • Pulmonary pathology and pathophysiology, including pulmonary hypoplasia and pulmonary hypertension, are hallmarks of CDH and are associated with disease severity.[ncbi.nlm.nih.gov]
  • Author information 1 Department of Surgery, University of Manitoba, Winnipeg, Manitoba, Canada; Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada; Department of Physiology and Pathophysiology, University of[ncbi.nlm.nih.gov]
  • One issue may be that of careful patient selection with regard to reversibility of pathophysiology.[ncbi.nlm.nih.gov]
  • 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.[emedicine.com]


  • With imaging, the presence of other associated lesions can be determined, facilitating appropriate management to prevent the potential complications.[ncbi.nlm.nih.gov]
  • We report a case of antenatally diagnosed left-sided congenital diaphragmatic hernia, managed on venovenous extracorporeal membrane oxygenation with an hemodynamic and ventilation strategy aimed at preventing left and right ventricular dysfunction.[ncbi.nlm.nih.gov]
  • Physicians should pay attention to a prenatal diagnosis of congenital diaphragmatic hernia in order to prevent newborn fatalities.[ncbi.nlm.nih.gov]
  • We speculate that modifying the ETT insertion depth to 5.5 cm   weight in newborns born at term may prevent pneumothoraces and improve outcomes for infants with CDH. Copyright 2017 Elsevier Inc. All rights reserved.[ncbi.nlm.nih.gov]
  • CONCLUSIONS: HFOV seems to prevent deterioration of hypercapnia and acidosis to a greater extent than CMV during TR in neonatal cases of CDH, although patients can also be ventilated with CMV.[ncbi.nlm.nih.gov]



  1. Pober BR, Russell MK, Ackerman KG. Congenital Diaphragmatic Hernia Overview. 2006 Feb 1 [Updated 2010 Mar 16]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
  2. Tovar JA. Congenital Diaphragmatic Hernia. Orphanet J Rare Dis. 2012;7:1.
  3. Kotecha S, Barbato A, Bush A, et al. Congenital diaphragmatic hernia. Eur Respir J. 2012;39(4):820-829.
  4. Keijzer R, Puri P. Congenital diaphragmatic hernia. Semin Pediatr Surg. 2010;19(3):180-185.
  5. Garne E, Haeusler M, Barisic I, et al. Congenital diaphragmatic hernia: evaluation of prenatal diagnosis in 20 European regions. Ultrasound Obstet Gynecol 2002;19:329–333.
  6. Chandrasekharan PK, Rawat M, Madappa R, Rothstein DH, Lakshminrusimha S. Congenital Diaphragmatic hernia – a review. Matern Health Neonatol Perinatol. 2017;3:6.

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Last updated: 2019-06-28 09:37