For children born with a congenital diaphragmatic hernia (CDH), modalities such as nitric oxide (NO), high-frequency oxygenation (HFO), and extracorporeal membrane oxygenation (ECMO) have improved survival, resulting in a growing recognition of many long-term CDH-associated complications. Given the complexity of these children, comprehensive long-term multidisciplinary care is essential. Chapter 31 discusses the complex medical and developmental care of infants with a CDH. Below, surgical considerations of the CDH survivor are discussed.
Gastroesophageal reflux
Gastroesophageal reflux disease (GERD) has a well-recognized association with CDH.
Proposed mechanisms for GERD in babies with CDH include elevated intra-abdominal pressure from positioning the hernia contents into the abdominal cavity or abnormal anatomy of the esophagus or gastroesophageal junction with and incompetent lower esophageal sphincter (LES).
The clinical presentation of GERD in these infants is similar to other children, including vomiting or regurgitation, discomfort associated with feeds, oral aversion, failure to thrive, and recurrent pneumonia.
GERD appears to be more severe in children requiring a prosthetic patch repair of the CDH or who had ECMO support.
Careful surveillance and treatment of GERD should be done for CDH survivors, including early consideration of antireflux surgery.
Fundoplication (see Section VII)
Antireflux surgical procedure in which the gastric fundus is wrapped around the lower portion of the esophagus and sutured in place, thereby functioning as a competent LES.
May be performed as an open surgical procedure or laparoscopically. A gastrostomy tube is often placed at the same time due to the frequency of oral feeding difficulties in these infants, or need for venting or continuous feeds postop.
Intestinal malrotation and obstruction
Variable degrees of intestinal malrotation/nonrotation are seen in babies with CDH as a result of abnormal positioning and fixation of the intestines.
Intestinal obstruction occurs in up to 20% of CDH patients, and the most commonly performed second surgical intervention in CDH is reexploration for small bowel obstruction.
Obstructive symptoms can be vague, and include feeding intolerance, abdominal distention, vomiting (bilious or nonbilious), constipation, bloody stools, and abdominal pain.
Suspicion of intestinal obstruction should prompt urgent surgical evaluation.
Failure to thrive
Failure to thrive (FTT) is seen in 20% to 50% of CDH survivors, despite attempts at optimization of oral caloric intake.
The pathophysiology of FTT in CDH includes increased catabolic stress in the neonatal period, oral aversion, chronic lung disease, and GERD.
Many CDH patients require a gastrostomy tube and high-caloric formulas.
Gastrostomy (see Section VI)
All CDH survivors should undergo regular nutritional assessments throughout early infancy. Early intervention by speech pathologists, consideration of supplemental feedings, and use of gastrostomy tube may avoid prolonged oral aversion, improve weight accretion, and foster development.
CDH recurrence
This risk of CDH recurrence is low following primary repair (ie, nonpatch closure), with most series reporting about a 5% risk. The risk of hernia recurrence is increased in babies requiring prosthetic patch closure, with up to a 40% risk of recurrence.
Most recurrences present from months to several years after the initial hospitalization.
Signs and symptoms of recurrence can be subtle, and include tachypnea, increased respiratory infections, feeding intolerance, vomiting, constipation, and chest or abdominal pain.
Often, hernia recurrence may be discovered incidentally on chest radiographs performed for surveillance or other reasons. CXR is recommended every 3 months for the first year of life, and then yearly to assess for reherniation in CDH survivors requiring patch repair. The risk of late (ie, decades later) hernia recurrence is unknown.
Chest wall and spine deformities
Chest wall deformities are present in up to 50% of CDH survivors, although the majority of these deformities are mild and rarely have significant consequences.
Several factors contribute to deformities, including a smaller thoracic cavity on the affected side as well as long-term increased work of breathing, which promotes retraction of the anterior chest wall.
It is controversial whether surgical correction of a pectus excavatum in these children results in improved pulmonary function.
Mild to moderate thoracic scoliosis has been reported in 5% to 10% of CDH survivors.
Periodic follow-up is suggested to monitor for these chest wall and spine deformities, with referral to a pediatric orthopedic surgeon when appropriate.
Congenital bronchopulmonary malformations include bronchopulmonary sequestration and congenital pulmonary airway malformation.
Both of these lesions generally require surgical resection to prevent infections and reduce the risk of malignancy.
Babies diagnosed in utero with a cystic lung mass need to be closely followed during pregnancy to ensure there is no development of fetal hydrops, which generally mandates fetal intervention at a specialized center with either cyst drainage or resection.
Most babies with a congenital bronchopulmonary malformation are asymptomatic at birth.
Occasionally, a large lesion will be associated with pulmonary distress in the newborn period, which mandates early resection.
Asymptomatic babies can be safely discharged to undergo evaluation and surgical resection at 3 to 12 months of age.
Prior to surgery, a computed tomography or MRI of the chest with arterial and venous phase contrast is generally obtained to detail lobar anatomy.
Congenital pulmonary airway malformation
A congenital pulmonary airway malformation (CPAM) is an increase of terminal respiratory bronchioles without alveolar growth, resulting in a multicystic lung mass that is not involved in normal gas exchange.
CPAMs are classified into microcystic (<5 mm cyst diameter) and macrocystic (≥5 mm cyst diameter). Microcystic lesions may be associated with other congenital anomalies, such as bronchial atresia.
CPAMs usually arise from the lower lung lobe, and are generally treated with resection of affected lobe, either via open thoracotomy or thoracoscopic approach.
Bronchopulmonary sequestration
A bronchopulmonary sequestration (BPS) is a mass of nonfunctioning lung tissue without bronchial connections. The mass receives anomalous arterial inflow supply from the systemic circulation, with venous outflow to either the systemic or pulmonary circulations.
BPSs are classified into intralobar and extralobar. Intralobar sequestrations are completely encased within the visceral lung pleura and generally require lobectomy for resection. Extralobar lesions are outside normal lung, and may be found within the chest, abdomen, or mediastinum.
Congenital lobar emphysema is a form of bronchomalacia that allows air passage during inspiration but limited passage during expiration, resulting in air trapping and lung hyperinflation. Lobar emphysema, whether congenital or acquired, often will not require surgical intervention. In the asymptomatic infant, expectant management is recommended, as most of these lesions will resolve over time. Surgical resection is indicated for persistent or symptomatic lesions.
Definition: A birth defect that develops early during pregnancy and results in an interrupted esophagus. Often associated with a tracheoesophageal fistula (TEF).
Incidence: The incidence of esophageal atresia (EA) is approximately one in 5000 births.
Clinical presentation: Infants typically present with excessive drooling, coughing, feeding intolerance, and respiratory difficulty.
Management: Most infants undergo repair in the first week of life and only require one procedure; however, more severe cases may require multiple surgical procedures.
Outcomes: Survival rates for children born with EA, with or without TEF are quite high, leading to an increasing recognition of long-term complications in these children.
Esophageal morbidity
EA and its surgical repair are associated with abnormal esophageal anatomy and innervation, which leads to esophageal dysmotility.
Depending on the type of diagnostic testing, the incidence of dysphagia ranges from 40% to 75% and GERD ranges from 10% to 60%. All infants with EA should receive antireflux medications such as proton pump inhibitors immediately following surgery.
Esophageal complications, including anastomotic stricture and recurrent TEF, are increased in the setting of severe GERD.
Symptoms of stricture can occur at any time, however, typically seen when a baby is transitioned to solid food. These babies often can only eat a few bites, and then proceed to begin coughing or choking.
The presence of anastomotic complications generally mandates surgical treatment, often with fundoplication in addition to dilatation and/or stricture resection.
Esophageal cancer: Several studies of adult EA patients have shown increased long-term rates of esophagitis, intestinal metaplasia (Barrett esophagus), as well as isolated case reports of esophageal cancer. However, despite a high incidence of esophageal intestinal metaplasia among EA survivors, the long-term risk of esophageal cancer in these patients is unknown. Several Swedish population–based studies suggest that the overall cancer incidence in EA survivors is similar to the general population.
Respiratory morbidity
Long-term respiratory problems are also common in children with EA.
Typical symptoms include aspiration, failure to thrive, choking, wheezing, persistent cough, repeated respiratory infections, and asthma. Repeated infections, ventilatory dependence, and chronic aspiration may result from tracheo- and bronchomalacia or a recurrent TEF.
Although most malacia-related morbidity decreases over the first several years of life, severe symptoms in infancy may require early surgical intervention such as aortopexy or tracheostomy. A recurrent TEF generally requires surgical repair.
A correlation exists between severe GERD and respiratory symptoms among EA survivors, although a causal relationship between these two conditions has not been clearly demonstrated. The reason for long-term pulmonary dysfunction may be lung damage from recurrent aspiration, poor tracheal clearance, or poor lung growth during infancy.
Spinal and other skeletal abnormalities
Chest wall deformities (thoracodystrophies) in survivors of EA may result from congenital skeletal anomalies or acquired following a thoracotomy incision.
Congenital skeletal abnormalities include vertebral, thoracic, and radial ray abnormalities. Many of these congenital abnormalities may be subtle and are not detected until late childhood, and their natural history is unclear. Common spine findings include cervical spine fusion and scoliosis.
Thoracotomy-induced rib fusion is associated with an increased risk of scoliosis. In most of these patients, the clinical course of scoliosis is mild and does not require bracing or spinal surgery. Other uncommon thoracotomy-induced abnormalities include winged scapula, anterior chest wall deformities (pectus carinatum or excavatum), rib fusion, and female breast deformities. It is unclear at this time whether the increasing use of thoracoscopy for repair of EA will result in a deceased rate of thoracodystrophies.
Quality of life
Most survivors of EA report that their overall health-related quality of life (QoL) is comparable with healthy controls. Interestingly, most QoL studies show that adults with repaired EA achieve a gastrointestinal QoL index score similar to that of their general population, despite that these patients had more dysphagia and GERD and a lower respiratory symptom–related QoL.
Fecal incontinence
Fecal soiling (incontinence) is often seen in children with a history of an anorectal malformation (ARM) or Hirschsprung disease.
Children can have true fecal incontinence or pseudoincontinence (encopresis).
The risk of fecal incontinence is increased in children with associated spinal problems, such as sacral malformation or tethered spinal cord.
In contrast to children with true fecal incontinence, encopresis occurs in children who have the potential for bowel control, but who have constipation, which leads to overflow and soiling.
All children with incontinence need a comprehensive bowel management program, typically provided by a pediatric gastroenterologist or pediatric surgeon.
A bowel management program consists of the use of medications including laxatives, stool softeners, and enemas depending on the type of incontinence, as well as other modalities such as diet, exercise, and bowel training.
It is important to distinguish between laxatives, which enhance motility by provoking peristalsis, and stool softeners and lubricants, which soften the stool and make it easier to pass.
In general, for children with true fecal incontinence, the use of laxatives does not work and may worsen soilage.
Children with encopresis need the provocative effect of laxatives, and may not respond to stool softeners.
The prognosis for bowel control for children with ARMs can be predicted in the newborn period based on the type of malformation and degree of spine anomalies.
Most ARMs have a good prognosis, including a rectovestibular fistula, rectoperineal fistula, rectal atresia, rectourethral bulbar fistula, particularly if there is no associated spinal abnormality. Most of these children can be expected to have voluntary bowel control by the age of 3 years. In contrast, children with a cloaca or rectobladder neck fistula, particularly with an associated spinal malformation, have a poor prognosis for continence.
In addition, some children may have incontinence if their ARM repair resulted in rectums that were not placed in the center of the sphincter mechanism. These children may have improved bowel control if they undergo reoperation to relocate the rectum.
True fecal incontinence
Approximately 25% of children with ARMs suffer from true fecal incontinence.
These children may require short-term treatment of constipation or may suffer from episodes of incontinence if they experience diarrhea.
Children with true fecal incontinence will not empty their colon with use of only stool softeners, and usually require an enema-based program.
At the beginning of the program, it may be helpful to obtain a contrast enema. Manometry is not required.
An enema program should be implemented over several days, with regular examinations and abdominal radiographs to monitor for retained stool. This program allows the clinician to make adjustments with the type and volume of the enema, medications, and diet.
For patients who have fast-moving colons, parents usually learn which foods provoke loose stools. The treatment starts with enemas, diet control, loperamide, and pectin. Children should stay on the diet for several days, and then are allowed to slowly reintroduce foods.
Long-term prognosis
Parents often ask if a bowel management program will be needed for life. For patients with no potential for bowel control, the answer may be yes. However, most children have potential to wean off of enemas. After initial therapy, most children are able to control bowel movements voluntarily, using a regimen of a disciplined diet as well as laxatives.
For children without potential for bowel control, another common question is whether a pull-through operation should be performed or whether they should be left with a permanent stoma. There is no clear answer for any one child, but in general children who can form solid stool could remain clean if compliant with a bowel management program. These children are usually better off with this program rather than a permanent stoma in terms of overall QoL.
Quality of life
The QoL of children with ARMs depends greatly on the success of attaining fecal continence.
Most reports suggest that children with poor continence have difficulties in forming relationships, achieve lower educational levels, and have behavior problems compared to children with good fecal continence.
The goal for treatment of most children born with an ARM is to have the child clean and wearing normal underwear by their school years.
Control of fecal soilage can generally be achieved with careful bowel management, and should be tailored to each child’s needs. Adherence to a bowel management program is time intensive for family and staff, but can markedly improve the QoL for these children.
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