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]

• Tracheal Deviation

  Repeat CT was performed after the patient collapsed on the ward five days following admission, revealing tracheal deviation, and a strangulated Bochdalek hernia containing stomach and spleen. [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]

• Ectopia Lentis

  Subsequent clinical evaluations revealed evidence for ectopia lentis in affected family members supporting a clinical diagnosis of Marfan syndrome. [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]

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]

Overall infant mortality was 32.5%, and varied considerably by underlying etiology (isolated 21%; multiple 44%; syndromic 82%). [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]

Epidemiology Epidemiological data refers to the US, unless otherwise specified. [amboss.com]

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]

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]

Pulmonary pathology and pathophysiology, including pulmonary hypoplasia and pulmonary hypertension, are hallmarks of CDH and are associated with disease severity. [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]

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]

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.