Congenital Diaphragmatic Hernia Imaging

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Congenital diaphragmatic hernia (CDH) is a major surgical emergency in newborns. The key to survival lies in prompt diagnosis and treatment. ^{[1, 2, 3, 4]} In the United States and worldwide, this condition occurs in about 1 of every 2000-4000 live births and accounts for 8% of all major congenital anomalies. Congenital diaphragmatic hernia is by far the most often diagnosed diaphragmatic pathology, but unilateral or bilateral eventration or paralysis can also be identified. ^{[5, 6, 7]}

Mortality in babies with congenital diaphragmatic hernia has been reported to be 25-60% and is related to pulmonary hypoplasia, persistent fetal circulation (PFC), and associated anomalies (see Complications of congenital diaphragmatic hernia, below). ^{[8, 1, 2, 9]} The identification of the stomach within the chest is correlated with a poor outcome, possibly as a result of herniation at an earlier stage of gestation that results in a greater degree of pulmonary hypoplasia. Poor outcomes have also been associated with pneumothorax (reflecting lung hypoplasia) and a right-sided defect, whereas favorable features include the presence of aerated ipsilateral lung and aeration in the contralateral lung of more than 50%. ^{[8, 1]} See the following images.

No racial predilections have been noted in congenital diaphragmatic hernia, but Benjamin et al reported a male preponderance in left-sided hernias, with a male-to-female ratio of 3:2; the incidence is even more striking in right-sided hernias, with a male-to-female ratio of 3:1. ^[10]

The 3 basic types of congenital diaphragmatic hernia are posterolateral Bochdalek hernia (occurring in utero at approximately 6 weeks of gestation) ^{[11, 12, 13]} (see the image below), anterior Morgagni hernia, and hiatus hernia.

Left-sided Bochdalek hernia is seen in approximately 90% of cases. The major problem in a Bochdalek hernia is the posterolateral defect of the diaphragm, which results in either failure of the pleuroperitoneal folds to develop or improper or absent migration of the diaphragmatic musculature. Bilateral Bochdalek hernias are rare. ^[11]

Morgagni hernia is a less common form of congenital diaphragmatic hernia, occurring in only 5-10% of cases. This hernia occurs in the anterior midline through the sternocostal hiatus of the diaphragm, with 90% of cases occurring on the right side.

A congenital hiatus hernia is very rare in neonates. In this form, herniation of the stomach occurs through the esophageal hiatus.

Several complications are associated with congenital diaphragmatic hernia and include the following

Pulmonary hypoplasia

Gastric volvulus

Rotational abnormalities and midgut volvulus

Hypoplasia of the left ventricle with a left-sided hernia or pleural effusions caused by right-sided involvement

Bilateral renal hypertrophy

Pulmonary hypoplasia, which may be unilateral or bilateral, is a serious complication of congenital diaphragmatic hernia. This hypoplasia may result in a persistent fetal circulation ^[8] and is thought to result from long-standing intrauterine (embryonic) compression of the lungs by the hernia. Mortality in babies with congenital diaphragmatic hernia is largely confined to those with bilateral pulmonary hypoplasia; however, hypoplasia is always more severe in the lung ipsilateral to the hernia. The pulmonary vasculature is also affected to a greater degree than the bronchial tree. ^[8]

Hypoplasia of the lungs is most severe in infants with the largest and longest-standing hernias; these infants are less likely to survive after birth. If a diaphragmatic hernia develops toward the end of pregnancy or after birth, pulmonary hypoplasia does not occur. ^[2]

Gastric volvulus can occur in early infancy as a complication of congenital diaphragmatic hernia, and it usually produces acute gastric obstruction. The radiographic findings usually consist of an inverted distended stomach.

Intestinal malrotation is commonly observed in children with congenital diaphragmatic hernia (30-62%); this condition occurs in 37-40% of the cases of right-sided congenital diaphragmatic hernia. Volvulus is a complication in a small minority of these cases. ^[14]

The radiographic findings of intestinal malrotation in congenital diaphragmatic hernia usually consist of a high gastrointestinal obstruction. The results of contrast-enhanced studies, either air or barium studies, confirm the level of obstruction, which is usually toward the third and fourth portions of the duodenum. If a midgut volvulus is present, a beaked or tapering deformity of the obstructed duodenum is seen. Similar findings can be demonstrated with ultrasonography. ^[9]

Pleural effusion is believed to result from lymphatic obstruction secondary to the compressive effects of the hernia.

The kidneys are often enlarged and hyperplastic. ^[9] An embryonic liaison between the kidneys and the lungs has been suggested, wherein the kidney produces a pulmonary growth factor (proline) that influences normal lung development. Conversely, when the lung is hypoplastic, it produces a renotropic substance and causes the kidneys to hypertrophy.

Congenital diaphragmatic hernia can also occur as a part of De Lange syndrome (an autosomal dominant disorder with microbrachycephaly and limb and digital anomalies) and as a part of Fryns syndrome (an autosomal recessive disorder with variable features that include diaphragmatic hernia, cleft lip and palate, and distal digital hypoplasia). Congenital diaphragmatic hernia can occur in association with cardiovascular, genitourinary, and gastrointestinal malformations. This condition may also be found in a variety of chromosomal anomalies, including trisomy 13, trisomy 18, and tetrasomy 12P mosaicism. ^{[2, 10]}

Other conditions that should be considered are cystic adenomatoid malformation, pneumatocele, and mediastinal cyst (bronchogenic, neuroenteric, thymic). Gastric or other intestinal perforations rarely occur.

In the prenatal period, ultrasonography has a high sensitivity in the detection of congenital diaphragmatic hernia. Bowel loops may appear to undergo peristalsis in the chest. ^[15]

In the neonatal and infantile periods, the importance of obtaining a chest radiograph at the first sign of distress cannot be overstated. This image usually permits an accurate diagnosis, although sometimes plain abdominal radiography is also needed for a precise diagnosis. Typically, no bowel gas is evident in the abdomen.

In patients presenting in the neonatal and infantile periods, the classic radiographic appearance of congenital diaphragmatic hernia is one in which the left hemithorax is filled with cystlike structures (loops of bowel), the mediastinum is shifted to the right, and the abdomen is relatively devoid of gas (see the images below). ^[9] In some cases, a few loops of intestine can be seen in the abdomen, but more often only the stomach remains visible within the abdomen.

Interestingly, the stomach may be in an abnormal location, often more central than one would expect. The abnormal positioning of the stomach may be helpful in differentiating congenital diaphragmatic hernia from those few cases of congenital cystic adenomatoid malformation (CCAM) in which the cysts are large enough to mimic the air-filled intestinal loops. ^[9] In CCAM of the lungs, the stomach and bowel are normal in position and appearance.

If the chest radiograph is obtained before any air has entered the herniated bowel, diagnosing this condition with accuracy may be difficult. Similar difficulties arise when the liver alone is in the right hemithorax. In either case, the involved hemithorax is partially or totally opacified, and the mediastinal structures are shifted to the other side. In this circumstance, a large pleural fluid collection or mass may be present; however, in most such cases, air soon enters the intestine, and this finding establishes the diagnosis. In other cases, the condition may be diagnosed by noting abnormal intrathoracic positioning of a nasogastric tube. ^[9]

Unusual findings include a contralateral pneumothorax, contralateral collapse/consolidation, fluid in the chest, and the absence of a contralateral aerated lung. ^[9] If herniation occurs on the right, the intestine and liver or the liver alone may fill the right hemithorax. If the liver is in the chest, its normal silhouette is not generally seen in the abdomen.

Classically, Morgagni hernias appear as unilateral, mediastinal, and basal masses containing a variety of abdominal organs, including air-filled loops of intestine. Occasionally, these hernias may be bilateral, and in rare cases, they may produce significant respiratory distress. Large anterior-central diaphragmatic hernias may produce elevation of the cardiac silhouette and bilateral bulges to either side of the lower mediastinum. Often, these herniations occur into the pericardial cavity. When this occurs, serious cardiorespiratory compromise can result. ^{[3, 9]}

After the repair of a congenital diaphragmatic hernia, an ipsilateral ex vacuo pneumothorax is a universal finding on all chest radiographs obtained immediately after surgery in neonates. This finding is unaffected by the use of a chest drain. ^[8]

The degree of expansion of the ipsilateral lung is variable. Final radiographs at discharge usually demonstrate a mild ipsilateral shift of the mediastinum. In most cases, this indicates increased pulmonary hypoplasia in the ipsilateral lung.

The postoperative radiographic course for patients presenting in later childhood is different. The ipsilateral lung is frequently fully expanded on the first postoperative radiograph, and the diaphragm usually occupies a normal position. These findings indicate a lesser degree of pulmonary hypoplasia. ^[8]

In adults with congenital diaphragmatic hernia, previously undiagnosed Bochdalek hernias are most frequently identified when patients undergo computed tomography (CT) scanning for reasons that appear to be unrelated to the hernia. These Bochdalek hernias usually contain retroperitoneal fat or a kidney. ^{[4, 11, 12]}

Some authors believe that, with the routine use of thin-section CT scanning on modern imaging equipment, the prevalence and characteristics of late-presenting Bochdalek hernia can be more accurately estimated ^{[12, 16]} ; however, small Bochdalek defects may occur in as many as 6% of older adults.

MRI can accurately depict congenital diaphragmatic hernia and permits an easy diagnosis. MRI findings can be used to differentiate this condition from other chest masses, and MRI is superior to ultrasonography in demonstrating the position of the fetal liver above or below the diaphragm. MRIs can clearly depict diaphragmatic discontinuity, a fetal compressed lung, and connecting bowel segments between the abdomen and chest. ^{[17, 5]}  

Most infants with congenital diaphragmatic hernia have at least 1 abnormality identified on MRI of the brain. In a study of 53 infants with congenital diaphragmatic hernia, 32 had at least 1 abnormality. The most common MRI findings were enlarged extra-axial spaces (36%), intraventricular hemorrhage (23%), ventriculomegaly (19%), white-matter injury (17%), and cerebellar hemorrhage (17%). The main predictors of brain injury were a requirement for extracorporeal membrane oxygenation, large diaphragmatic defect size, and lack of oral feeding at discharge. ^[18]

Pregnant women carrying a fetus with congenital diaphragmatic hernia are often referred for ultrasonography first because of suspected polyhydramnios. The definite ultrasonographic diagnosis of fetal congenital diaphragmatic hernia lies on the visualization of abdominal organs in the chest; the ultrasonographic hallmark of this condition is a fluid-filled mass just behind the left atrium and ventricle in the lower thorax, as seen on a transverse view.

In patients presenting in the prenatal period, ultrasonographic features indicative of congenital diaphragmatic hernia include polyhydramnios, an absent or intrathoracic stomach bubble, a mediastinal and cardiac shift away from the side of the herniation, a small fetal abdominal circumference, the absence of the stomach in the abdomen, and, rarely, fetal hydrops. ^{[15, 19, 20]}

Fetal cardiac ultrasonography can provide useful information for predicting the outcomes of isolated left-sided congenital diaphragmatic hernia. The ratio of the diameter of the tricuspid valve to that of the mitral valve (TV/MV ratio) has been found to be a reliable indicator of outcomes of isolated left-sided congenital diaphragmatic hernia. A TV/MV ratio greater than 1.72 has been found to discriminate nonsurvivors from survivors with better sensitivity and specificity. ^[21]

In a right-sided hernia, the right lobe of the liver alone may be herniated (see the image below), or associated hydrothorax and ascites may be observed. ^[15]

Fetal ultrasound markers of congenital diaphragmatic hernia severity have been found to be predictive of significant morbidity and death . Lung-to-head ratio less than 1, thoracic liver position, and aberrant stomach position have been found to be associated with delayed time to resolution of pulmonary hypertension and may be used to identify fetuses at high risk of persistent pulmonary hypertension. ^[20]

Mitanchez D. [Antenatal treatment of congenital diaphragmatic hernia: An update.]. Arch Pediatr. 2008 Jun 27. [Medline].

Gucciardo L, Deprest J, Done’ E, Van Mieghem T, Van de Velde M, Gratacos E, et al. Prediction of outcome in isolated congenital diaphragmatic hernia and its consequences for fetal therapy. Best Pract Res Clin Obstet Gynaecol. 2008 Feb. 22(1):123-38. [Medline].

Pironi D, Palazzini G, Arcieri S, Candioli S, Manigrasso A, Panarese A, et al. Laparoscopic diagnosis and treatment of diaphragmatic Morgagni hernia. Case report and review of the literature. Ann Ital Chir. 2008 Jan-Feb. 79(1):29-36. [Medline].

Pelizzo G, Lembo MA, Franchella A. Gastric volvulus associated with congenital diaphragmatic hernia, wandering spleen, and intrathoracic left kidney: CT findings. Abdom Imaging. 2001 May-Jun. 26(3):306-8. [Medline].

Alamo L, Gudinchet F, Meuli R. Imaging findings in fetal diaphragmatic abnormalities. Pediatr Radiol. 2015 Aug 9. [Medline].

Puligandla PS, Skarsgard ED. The Canadian Pediatric Surgery Network Congenital Diaphragmatic Hernia Evidence Review Project: Developing national guidelines for care. Paediatr Child Health. 2016 May. 21 (4):183-6. [Medline].

Abman SH, Hansmann G, Archer SL, et al. Pediatric Pulmonary Hypertension: Guidelines From the American Heart Association and American Thoracic Society. Circulation. 2015 Nov 24. 132 (21):2037-99. [Medline].

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Tibboel D, Gaag AV. Etiologic and genetic factors in congenital diaphragmatic hernia. Clin Perinatol. 1996 Dec. 23(4):689-99. [Medline].

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Mullins ME, Stein J, Saini SS, Mueller PR. Prevalence of incidental Bochdalek’s hernia in a large adult population. AJR Am J Roentgenol. 2001 Aug. 177(2):363-6. [Medline].

Bean JF, Kort CA, Radhakrishnan J. Concurrent congenital peritoneopericardial diaphragmatic hernia and bochdalek hernia in a neonate. Springerplus. 2014. 3:290. [Medline].

Rescorla FJ, Shedd FJ, Grosfeld JL, et al. Anomalies of intestinal rotation in childhood: analysis of 447 cases. Surgery. 1990 Oct. 108(4):710-5; discussion 715-6. [Medline].

Wilcox DT, Irish MS, Holm BA, Glick PL. Prenatal diagnosis of congenital diaphragmatic hernia with predictors of mortality. Clin Perinatol. 1996 Dec. 23(4):701-9. [Medline].

REED JO, LANG EF. Diaphragmatic hernia in infancy. Am J Roentgenol Radium Ther Nucl Med. 1959 Sep. 82:437-49. [Medline].

Cannie M, Jani J, De Keyzer F, Van Kerkhove F, Meersschaert J, Lewi L, et al. Magnetic resonance imaging of the fetal lung: a pictorial essay. Eur Radiol. 2008 Jul. 18(7):1364-74. [Medline].

Radhakrishnan R, Merhar S, Meinzen-Derr J, Haberman B, Lim FY, Burns P, et al. Correlation of MRI Brain Injury Findings with Neonatal Clinical Factors in Infants with Congenital Diaphragmatic Hernia. AJNR Am J Neuroradiol. 2016 Sep. 37 (9):1745-51. [Medline].

Britto IS, Sananes N, Olutoye OO, Cass DL, Sangi-Haghpeykar H, Lee TC, et al. Standardization of Sonographic Lung-to-Head Ratio Measurements in Isolated Congenital Diaphragmatic Hernia: Impact on the Reproducibility and Efficacy to Predict Outcomes. J Ultrasound Med. 2015 Aug 25. [Medline].

Lusk LA, Wai KC, Moon-Grady AJ, Basta AM, Filly R, Keller RL. Fetal ultrasound markers of severity predict resolution of pulmonary hypertension in congenital diaphragmatic hernia. Am J Obstet Gynecol. 2015 Aug. 213 (2):216.e1-8. [Medline].

Yamoto M, Tanaka Y, Fukumoto K, Miyake H, Nakajima H, Koyama M, et al. Cardiac fetal ultrasonographic parameters for predicting outcomes of isolated left-sided congenital diaphragmatic hernia. J Pediatr Surg. 2015 Dec. 50 (12):2019-24. [Medline].

Ali Hekmatnia, MD Professor, Department of Pediatric Radiology, Isfahan University of Medical Sciences, Iran; Consulting Staff, Department of Radiology, Al-Zahra Hospital, Iran

Disclosure: Nothing to disclose.

Kieran McHugh, MB, BCh Honorary Lecturer, The Institute of Child Health; Consultant Pediatric Radiologist, Department of Radiology, Great Ormond Street Hospital for Children, London, UK

Kieran McHugh, MB, BCh is a member of the following medical societies: American Roentgen Ray Society, Royal College of Radiologists

Disclosure: Nothing to disclose.

Bernard D Coombs, MB, ChB, PhD Consulting Staff, Department of Specialist Rehabilitation Services, Hutt Valley District Health Board, New Zealand

Disclosure: Nothing to disclose.

David A Stringer, MBBS, FRCR, FRCPC Professor, National University of Singapore; Head, Diagnostic Imaging, KK Women’s and Children’s Hospital, Singapore

David A Stringer, MBBS, FRCR, FRCPC is a member of the following medical societies: Royal College of Physicians and Surgeons of Canada, Royal College of Radiologists, Society for Pediatric Radiology, British Columbia Medical Association, European Society of Paediatric Radiology

Disclosure: Nothing to disclose.

Eugene C Lin, MD Attending Radiologist, Teaching Coordinator for Cardiac Imaging, Radiology Residency Program, Virginia Mason Medical Center; Clinical Assistant Professor of Radiology, University of Washington School of Medicine

Eugene C Lin, MD is a member of the following medical societies: American College of Nuclear Medicine, American College of Radiology, Radiological Society of North America, Society of Nuclear Medicine and Molecular Imaging

Disclosure: Nothing to disclose.

S Bruce Greenberg, MD Professor of Radiology, University of Arkansas for Medical Sciences; Consulting Staff, Department of Radiology, Arkansas Children’s Hospital

S Bruce Greenberg, MD is a member of the following medical societies: Radiological Society of North America

Disclosure: Nothing to disclose.

Congenital Diaphragmatic Hernia Imaging

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