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Diaphragmatic Hernia

Congenital diaphragmatic hernia is essentially a defect in the diaphragm that occurs in the uterus. The disorder results in lung hypoplasia, pulmonary hypertension and severe hypoxia. Many of these infants have associated congenital defects which increase the morbidity and mortality.


Presentation

Prenatal Presentation

The diagnosis of congenital diaphragmatic hernia is often made prenatally using ultrasound. Infants with diaphragmatic hernia may also have other problems that may be identified with ultrasound like polyhydramnios, absent gastric bubble, mediastinal shift, and hydrops fetalis. Ultrasound may also show intestinal contents in the chest cavity and even a mediastinal shift. It is important to remember that there are other disorders that may mimic these findings, such as pulmonary sequestration, congenital cystic adenomatoid malformation, foregut cysts and mediastinal cysts.

Postnatal Presentation

Infants born with diaphragmatic hernia may present with clinical symptoms which might be due to pulmonary hypoplasia and the herniation of intestinal contents into the chest. The infant will usually present with

The physical exam can reveal a scaphoid abdomen and auscultation might reveal absent breath sound in the chest. Bowel sounds may also be heard in the chest and the heart sounds may be absent or displaced.
Some infants with a mild diaphragmatic defect may present late with features like respiratory distress, signs of bowel obstruction, metabolic acidosis or necrotic bowel.

Timing of Surgery

No time for repair of congenital diaphragmatic hernia (CDH) is ideal, but the pediatric surgeons suggest that the window of opportunity is 24-48 hours after birth. This time period allows for stabilization of the infant and helps achieve normal pulmonary arterial pressures with use of nitric oxide. It also gives time to correct any metabolic or electrolyte deficiency.

Increased Energy
  • Failure to thrive may result from increased energy requirements with chronic lung disease, poor oral feeding because of neurological delays and gastro-oesophageal reflux.[patient.info]
Recurrent Pulmonary Embolism
  • Medical history included type 2 diabetes, recurrent pulmonary embolisms and pre-existing diaphragmatic hernia containing part of the liver.[ncbi.nlm.nih.gov]
Abdominal Pain
  • We describe a case of a maternal diaphragmatic hernia diagnosed at 31 weeks gestation in the setting of acute upper abdominal pain.[ncbi.nlm.nih.gov]
  • An elderly woman in the hospital was complaining about upper abdominal pain that was complicated by the parasternal diaphragmatic hernia. Such state was found accidentally in a car accident and diagnosed by a computed tomography (CT) scan.[ncbi.nlm.nih.gov]
  • The second patient is a 90 year old woman who was admitted in our ward for abdominal pain and distension associated with vomiting.[ncbi.nlm.nih.gov]
  • The patient had been suffering for 15 days from severe abdominal pain and intractable vomiting, unrelieved by metoclopramide. Her weight decreased from 45 kg to 43 kg.[journals.lww.com]
Hematemesis
  • - Hiatus Abdominal hernia : Inguinal ( Indirect, Direct ) - Umbilical - Incisional - Femoral Obturator hernia - Spigelian hernia Peritoneal Peritonitis ( Spontaneous bacterial peritonitis ) - Hemoperitoneum - Pneumoperitoneum نزيف معدي معوي Upper ( Hematemesis[marefa.org]
Dyspepsia
  • […] disease GERD ) - Esophageal stricture - تضخم المرئ Megaesophagus المعدة Gastritis ( Atrophic, Ménétrier's disease, التهاب المعدةوالامعاء Gastroenteritis ) - قرحة هضمية Peptic ulcer Peptic (gastric) ulcer ( Cushing ulcer, Dieulafoy's lesion ) - عسرهضم Dyspepsia[marefa.org]
Right Flank Pain
  • A 94-year-old female presented with sharp right flank pain. Imaging demonstrated herniation of the right renal pelvis and proximal ureter into a large diaphragmatic hernia. She underwent ureteral stent placement with resolution of her symptoms.[ncbi.nlm.nih.gov]
Chest Pain
  • A 36 years old male underwent minimally invasive esophagectomy and presented with chest pain and dyspnoea in the emergency department 8 months after the procedure.[ncbi.nlm.nih.gov]
  • Chest Pain Chest pain is a diaphragmatic hernia symptom in adults, the Cleveland Clinic reports. This symptom occurs as a consequence of diaphragm inflammation caused by the unusual stomach protrusion or hernia.[livestrong.com]
Palpitations
  • The symptoms are generally of two types: Symptoms as a result of pressure on the organs in the chest, e.g. episodes of breathlessness or palpitations, recurrent cough or chest infections Symptoms related to the abdominal organs getting caught up in the[laparoscopyindia.com]
Muscle Cramp
  • CASE REPORT: In this report, we present the case of a 51-year-old white woman who originally presented to the Emergency Department with complaints of a runny nose, dry cough, generalized weakness, and muscle cramping ascribed to a viral infection.[ncbi.nlm.nih.gov]

Workup

When a diaphragmatic hernia is visualized on ultrasound, amniocentesis can be done to assess the karyotype. In addition, maternal serum alpha fetoprotein levels may be diminished.
After birth the following workups are required:

Imaging Studies

A repetition of  ultrasound is required at birth to confirm the diagnosis of diaphragmatic hernia
Echo is required to assess for presence of congenital heart defects and presence of any shunts. Common heart defects present include atrial and ventricular septal defects or a ductus arteriosus. These heart defects need to be repaired first prior to the diaphragmatic repair. In most centers, interventional endovascular procedures can now close most of these congenital heart defects. Serial echo are required as infants with diaphragmatic hernia may develop pulmonary hypertension. Hence measurement of pulmonary artery pressures and responsive to treatment is necessary. All infants with a diaphragmatic hernia need serial ECHOs to determine the pulmonary artery pressures and response to treatment. Detailed ultrasound can also assess the degree of pulmonary hypoplasia.[5]

Chest radiography

Chest x-ray is often the first imaging study done to confirm presence of diaphragmatic hernia. It may show a mediastinal shift to the contralateral side, bowel loops in the chest, or the presence of tip of the nasogastric tube in the chest cavity. Hernias on the right side are often difficult to visualize because the liver often prevents bowel contents from entering the chest cavity. Sometimes the liver may be pushed in the right chest cavity and may appear as a lobar consolidation or diaphragmatic eventration.

Bowel Distention
  • […] therapy in patients with congenital diaphragmatic hernia is directed toward optimizing oxygenation while avoiding barotrauma. [1] Management includes the following: Placement of a vented orogastric tube and connecting it to continuous suction to prevent bowel[emedicine.medscape.com]
Mediastinal Mass
  • Mediastinal masses in children. Semin Thorac Cardiovasc Surg. 2004; 16 :201–8. [ PubMed : 15619186 ] Jani JC, Nicolaides KH, Gratacós E, Valencia CM, Doné E, Martinez JM, Gucciardo L, Cruz R, Deprest JA.[ncbi.nlm.nih.gov]
Esophageal Motility Disorder
  • motility disorder ( Nutcracker esophagus, تعذر الارتخاء Achalasia, Diffuse esophageal spasm, جزر معدي مريئ Gastroesophageal reflux disease GERD ) - Esophageal stricture - تضخم المرئ Megaesophagus المعدة Gastritis ( Atrophic, Ménétrier's disease, التهاب[marefa.org]
Ischemic Changes
  • Ischemic changes of the herniated organs were not observed. Death was attributed to respiratory failure from abdominal viscera herniation into the left pleural cavity.[ncbi.nlm.nih.gov]
  • The hernia was successfully decompressed laparoscopically with the stomach having ischemic changes along the greater curvature, necessitating gastric wedge resection.[ncbi.nlm.nih.gov]
  • changes, as well as to rule out major intracranial anomalies Cranial sonography: When an infant is considered for extracorporeal support Procedures Endotracheal intubation and mechanical ventilation: Required in all infants with severe congenital diaphragmatic[emedicine.medscape.com]

Treatment

  • As soon as the infant is delivered, he/she is intubated. A nasogastric tube is inserted to decompress the stomach and avoid distension of the bowel contents. Bagging with a mask is not recommended as the gas may enter the stomach and intestine and worsen the compression of the lungs in the chest. All infants need to be managed in the neonatal intensive care unit with monitoring of the heart, blood pressure, urine output. The amount of fluid administered is strictly monitored to prevent overload into the lungs.
  • While on the ventilator, the amount of inspiratory pressures should be limited. A slight degree of hypercarbia is permitted as long as the pH is not significantly altered. In some centers high frequency ventilation and extracorporeal membrane oxygenation is utilized. When available, nitric oxide is also used to lower pulmonary hypertension in infants who remain critical and are hypoxic [6][7].
  • High frequency jet ventilation is usually employed in infants with hypoxemia and hypercarbia who fail to respond to conventional ventilation or require high levels of positive inspiratory pressure.
    Another therapy which is often used in infants with diaphragmatic hernia is surfactant treatment. Surfactant is often used as rescue therapy which is administered within 24 hours of birth in neonates with congenital diaphragmatic hernia who are thought to have a poor prognosis.
  • ECMO is an invasive procedure and criteria have been established regarding when it should be used. In general, infants who have respiratory failure, with a pH < 7.15, fail to respond to medical treatment and have an oxygen index > 40 may benefit from ECMO. In addition, the infant should not have lung hypoplasia. ECMO has been shown to give time for the lung to mature and helps transition from fetal circulation to maturation.
  • In the past the management of congenital diaphragmatic hernia involved emergent repair of the diaphragmatic hernia. Over the past two decades this approach has changed. Today, the emphasis is on management of pulmonary hypertension and pulmonary hypoplasia. Initial management involves a medical approach to correcting the hypoxia and improving alveolar recruitment. When the infant is stable, surgery is undertaken to the diaphragmatic hernia.
  • Surgical Therapy
    Most experts recommend that surgery to repair the diaphragmatic hernia should be done 24-48 hours after birth. This window can help achieve adequate oxygenation and normalize pulmonary artery pressures. However, in very sick infants surgery may have to be delayed until the infant is stable. With the availability of ECMO and high frequency jet ventilation, emergency surgery is almost never necessary. This can sometimes result in pulmonary hypertensive crises.
    Intraoperative Details
    Surgery to repair the diaphragmatic hernia may be done via a subcostal incision. The abdominal contents are examined, the hernia sac is excised and the diaphragm defect is closed. Small diaphragmatic defects are closed primarily, but large defects may require a prosthetic patch or a muscle flap. Both thoracoscopic and laparoscopic surgery can be used to repair the diaphragmatic defect. Thoracoscopic procedures provide better visibility, there is a lesser need for pain medications in the post operative period and the duration of ventilation is decreased. However, recurrence rate following thoracoscopic surgery is high.
  • Infants who are on ECMO and undergo surgical repair usually are at a high risk for complications such as bleeding, which can occur in the brain. It is usually preferred to wean the infant off the ECMO prior to surgery. 
  • Even after release from hospital, continual follow up with a variety of healthcare providers is necessary. These infants require serial pulmonary function tests, chest x-rays, blood gas and neurological assessment [8][9].

Prognosis

Over the years, many studies have looked at survival rates in infants with diaphragmatic hernia. Survival of infants with diaphragmatic hernia depends on comorbidity, degree of prematurity, and extent of hypoxia [4]. For infants with just a diaphragmatic defect, the prognosis is good. Infants with lung hypoplasia and pulmonary hypertension tend to have a poor prognosis. Even with the use of ECMO and high frequency jet ventilation, the mortality rates remain high. Post operative complications are serious and include bowel obstruction, adhesions, volvulus and leakage of peritoneal fluid into the chest cavity. Most infants have a prolonged hospital stay and later require extensive pulmonary rehabilitation. Studies have shown persistent neuropsychiatric deficits in a number of children who had congenital diaphragmatic hernia at birth.

Etiology

The exact cause of congenital diaphragmatic hernia remains unknown. There are several hypothesis as to why diaphragmatic hernias develop. Infants with a variety of chromosomal abnormalities are known to develop diaphragmatic hernia. However, there is no particular syndrome which has a high incidence of diaphragmatic hernia and the incidence varies. Diaphragmatic hernias are not genetically inherited, as the familial incidence is very low.
The role of toxins, environmental chemicals and drugs as a cause of diaphragmatic hernia is uncertain. There is no one study that has shown a solid correlation between exposure to these agents and the occurrence of the hernia. However, certain drugs like thalidomide, quinine and nitrogen have been used to induce diaphragmatic defects in laboratory animals.
The diaphragmatic hernia results because of the failure of the pleuroperitoneal canals to close. When this canal remains open, the intestine and other intra-abdominal organs can enter the chest cavity. As these structures occupy volume, they compress the lung at a critical stage during its maturation, leading to hypoplasia. There is also a shift of the mediastinum to the contralateral chest cavity that may result in mild compression of the contralateral lung and the heart.

Epidemiology

Congenital diaphragmatic hernia is not a common disorder and occurs in 0.1 per 300 live births. The disorder is known to occur in both genders and all races. Outside the USA, the exact number of infants with this disorder is not known but the rates are felt to be similar. The majority of these infants are treated in specialized tertiary care centers where ECMO and high frequency jet ventilation techniques are available.

Sex distribution
Age distribution

Pathophysiology

The pathophysiology of a congenital diaphragmatic hernia is related to several associated factors like pulmonary hypertension, pulmonary hypoplasia, absence of surfactant and immaturity of the lung. The basic pathology starts with the intestinal contents herniating into the chest cavity. The compression effect of intestine and the other intra-abdominal organs prevent lung development on the ipsilateral side. The sooner the herniation occurs in the chest cavity, the more pronounced is the pathology on the lung. Lung development and airway division can be inhibited by the compressive effects of bowel. Besides effecting lung development, the herniation of the intestine also affect development of the pulmonary arterial system and bronchi, and the end result is fewer pulmonary artery branches. The eventual outcome is development of severe muscular hypertrophy of the pulmonary vessels that are sensitive to vasoconstriction. Pulmonary hypertension that results often leads to right to left shunting at the ductal and through the foramen ovale, resulting in cyanosis. The persistence of this fetal circulation leads to severe right heart strain leading to hypoxemia, hypercarbia, acidosis and pulmonary hypertension. Infants with congenital diaphragmatic hernia also have deficiency of surfactant and impairment of antioxidant enzymes making the lung parenchyma susceptible to hypoxic injury. Depending on the extent of intestinal herniation in the chest cavity, there is a shift of the mediastinum to the contralateral side and compression on the heart.

Prevention

Because the cause of diaphragmatic hernia is unknown, prevention is difficult. However, all pregnant females should undergo regular prenatal ultrasounds, so that the disorder can be identified early and preparations can be made for transfer to a tertiary care center. The patient should be told to avoid use of medications, herbal products and any other unknown agent during the pregnancy, without first speaking to the physician. Because congenital diaphragmatic hernia does not appear to have a genetic link, the risk to successive pregnancies is low.

Summary

Congenital diaphragmatic hernia is not a novel disorder. The first case was reported nearly 400 years ago. The first surgical attempt to repair this disorder was done about 140 years ago, but at that time there was no anesthesia and the surgical equipment were crude, hence mortality rates were high. Over the years, there has been a better understanding of congenital diaphragmatic hernia and its pathophysiology. The condition is diagnosed in utero in most cases and the mother is often transferred to a tertiary care center for post natal care. The presentation of an infant with a diaphragmatic hernia can vary depending on when the defect developed in-utero, the degree of hypoxia, presence of pulmonary hypertension and any other co-morbidities. Congenital diaphragmatic hernia is often associated with other anomalies at birth that increase the morbidity and mortality. Congenital heart defects, renal anomalies, chromosomal defects, urological abnormalities and neural tube defects tend to occur in at least 10-15% of infants.
In the past immediate surgery was undertaken for infants with congenital diaphragmatic hernia, but now with better a understanding, most experts indicate that surgery should be deferred until the infant is stabilized. Most of these infants require immediate intubation, with low ventilatory pressures and nitric oxide. In some centers high frequency jet ventilation and extra corporeal membrane circulation (ECMO) have been used to help infants overcome the hypoxia and pulmonary hypertension [1][2][3].

Patient Information

Congenital diaphragmatic hernia is a serious disorder where there is a defect in the diaphragm during fetal development. The abdominal contents can then enter the chest cavity and prevent lung development on that side. In addition, the intestines can push the chest contents to the opposite site and also compress the heart. Infants are usually diagnosed with diaphragmatic hernia at birth and transferred to a specialized center. Most infants are symptomatic and require intubation with ventilation. Surgery is often done within 24-48 hours. Because of the failure of the lung to develop, most infants develop high pressures in their lung which prevents oxygenation. Right sided heart failure can occur. The prognosis of these infants depends on the complexity of the diaphragmatic defects and other comorbid disorders. Despite availability of new tools, the treatment of diaphragmatic hernia is difficult and does carry a high mortality.

References

Article

1.Losty PD. Congenital diaphragmatic hernia: where and what is the evidence? Semin Pediatr Surg. 2014 Oct;23(5):278-82.
2.Harting MT, Lally KP. The Congenital Diaphragmatic Hernia Study Group registry update. Semin Fetal Neonatal Med. 2014 Dec;19(6):370-5
3.Wynn J, Yu L, Chung WK. Genetic causes of congenital diaphragmatic hernia. Semin Fetal Neonatal Med. 2014 Dec;19(6):324-30
4. Iqbal CW, Derderian SC, Lusk L, Basta A, Filly RA, Lee H, Hirose S. Outcomes for Prenatally Diagnosed Right Congenital Diaphragmatic Hernia. Fetal Diagn Ther. 2015 Mar 4.
5. Bendapudi P, Rao GG, Greenough A. Diagnosis and management of persistent pulmonary hypertension of the newborn. Paediatr Respir Rev. 2015 Feb 10. pii: S1526-0542(15)00008-1.
6. Kays DW, Islam S, Richards DS, Larson SD, Perkins JM, Talbert JL. Extracorporeal life support in patients with congenital diaphragmatic hernia: how long should we treat? J Am Coll Surg. 2014 Apr;218(4):808-177. Desai AA, Ostlie DJ, Juang D. Optimal timing of congenital diaphragmatic hernia repair in infants on extracorporeal membrane oxygenation. Semin Pediatr Surg. 2015 Feb;24(1):17-9
8. Tracy S, Chen C. Multidisciplinary long-term follow-up of congenital diaphragmatic hernia: a growing trend. Semin Fetal Neonatal Med. 2014 Dec;19(6):385-91
9. Danzer E, Kim SS. Neurodevelopmental outcome in congenital diaphragmatic hernia: Evaluation, predictors and outcome. World J Clin Pediatr. 2014 Aug 8;3(3):30-6

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Last updated: 2019-07-11 21:10