Diaphragmatic hernia - Clinicals, Diagnosis, and Management

Upper GI

Clinicals - History

Fact Explanation
The neonate can be asymptomatic or become symptomatic minutes after birth depending on the lesion Congenital diaphragmatic hernia caused by failure of formation or fusion of the components of the diaphragm. It occurs 1 in 3000 live births. Most common type is Bochdalek (posterolateral) type which become symptomatic shortly after birth. This has a high male predominance.
Other types eg. Morgagni (retrosternal) are rare and can be asymptomatic unless strangulation occurs.
The neonate can be asymptomatic or become symptomatic minutes after birth depending on the lesion
Congenital diaphragmatic hernia caused by failure of formation or fusion of the components of the diaphragm. It occurs 1 in 3000 live births. Most common type is Bochdalek (posterolateral) type which become symptomatic shortly after birth. This has a high male predominance.
Other types eg. Morgagni (retrosternal) are rare and can be asymptomatic unless strangulation occurs.
Shortness of breath/severe respiratory distress Abdominal contents are herniated into the thoracic cavity through the defect. In Bochdalek type there is a posterolateral defect in the diaphragm, which leads to herniation of small bowel loops, stomach, spleen and left lobe of the liver through the defect and occupying the space in the thoracic cavity. This interferes with the development of the lungs leading to lung hypoplasia. Shortness of breath/severe respiratory distress
Abdominal contents are herniated into the thoracic cavity through the defect. In Bochdalek type there is a posterolateral defect in the diaphragm, which leads to herniation of small bowel loops, stomach, spleen and left lobe of the liver through the defect and occupying the space in the thoracic cavity. This interferes with the development of the lungs leading to lung hypoplasia.
Collapse If the hernia gut viscera protrudes through the pericardial cavity it may produce cardiac tamponade. Collapse
If the hernia gut viscera protrudes through the pericardial cavity it may produce cardiac tamponade.
Intolerance of feeds Due to severe cardio-respiratory compromise Intolerance of feeds
Due to severe cardio-respiratory compromise
Prenatal diagnosis by ultrasound scan A majority of patients are diagnosed by antenatal ultrasound scan. The abdominal contents can be seen protruding into the thorax. Other associated features are absent gastric air bubble, mediastinal shift and polyhydramnios. Prenatal diagnosis by ultrasound scan
A majority of patients are diagnosed by antenatal ultrasound scan. The abdominal contents can be seen protruding into the thorax. Other associated features are absent gastric air bubble, mediastinal shift and polyhydramnios.
Associated other congenital anomalies This can be present in up to 40% of patients. Common associated anomalies are undescended testis, craniofacial defects, cardiovascular abnormalities, abnormalities of the CNS, and genitourinary and/or renal anomalies. Extremity abnormalities and spinal dysraphism may suggest syndromic congenital diaphragmatic hernia Associated other congenital anomalies
This can be present in up to 40% of patients. Common associated anomalies are undescended testis, craniofacial defects, cardiovascular abnormalities, abnormalities of the CNS, and genitourinary and/or renal anomalies. Extremity abnormalities and spinal dysraphism may suggest syndromic congenital diaphragmatic hernia
Risk factors and etiological factors The cause is not completely understood. No significant relationship between genetic factors and congenital diaphragmatic hernia is found. The evidence on the role of drugs or chemicals is limited. Risk factors and etiological factors
The cause is not completely understood. No significant relationship between genetic factors and congenital diaphragmatic hernia is found. The evidence on the role of drugs or chemicals is limited.

Clinicals - Examination

Fact Explanation
Barrel shaped chest Since the bowel loops are inside the thoracic cavity, the thoracic cavity is hyper inflated. Barrel shaped chest
Since the bowel loops are inside the thoracic cavity, the thoracic cavity is hyper inflated.
Increased respiratory effort/ Tachypnea Due to lung hypoplasia, the neonate requires more effort for breathing. Increased respiratory effort/ Tachypnea
Due to lung hypoplasia, the neonate requires more effort for breathing.
Cyanosis The oxygenation of the blood is reduced due to hypoplasia of the lungs. Cyanosis
The oxygenation of the blood is reduced due to hypoplasia of the lungs.
Reduced breath sounds Due to compression of the lung by the herniated abdominal viscera. Reduced breath sounds
Due to compression of the lung by the herniated abdominal viscera.
Displaced heart sounds Due to mediastinal shift. Displaced heart sounds
Due to mediastinal shift.
Hypotension , tachycardia Due to reduced cardiac output. This results from kinking of major blood vessels due to mediastinal shift. Hypotension , tachycardia
Due to reduced cardiac output. This results from kinking of major blood vessels due to mediastinal shift.
Scaphoid abdomen Abdominal contents are herniated into the thoracic cavity. Scaphoid abdomen
Abdominal contents are herniated into the thoracic cavity.
Audible bowel sounds in the chest Due to the herniated bowel loops into the thoracic cavity. Audible bowel sounds in the chest
Due to the herniated bowel loops into the thoracic cavity.

Investigations - Diagnosis

Fact Explanation
Chest X ray Characteristic features in a left-sided posterolateral congenital diaphragmatic hernia are air or fluid-filled loops of bowel in the left hemithorax and the shift of the cardiac silhouette to the right. Look for evidence of pneumothorax. Chest X ray
Characteristic features in a left-sided posterolateral congenital diaphragmatic hernia are air or fluid-filled loops of bowel in the left hemithorax and the shift of the cardiac silhouette to the right. Look for evidence of pneumothorax.
barium study Look for the presence of bowel loops within the thoracic cavity barium study
Look for the presence of bowel loops within the thoracic cavity
Nasogastric tube insertion test The position of the stomach can be determined. In diaphragmatic hernia the tip of the tube remains within the thoracic cavity. This can be used to differentiate from congenital lung cysts. Nasogastric tube insertion test
The position of the stomach can be determined. In diaphragmatic hernia the tip of the tube remains within the thoracic cavity. This can be used to differentiate from congenital lung cysts.

Investigations - Management

Fact Explanation
Arterial Blood Gas analysis To assess the degree of respiratory compromise. Arterial Blood Gas analysis
To assess the degree of respiratory compromise.
Serum lactate level To detect the metabolic acidosis. A normal lactate level, a mixed venous oxygen saturation (SvO2) more than 70%, and the absence of metabolic acidosis are predictors of good outcome. Serum lactate level
To detect the metabolic acidosis. A normal lactate level, a mixed venous oxygen saturation (SvO2) more than 70%, and the absence of metabolic acidosis are predictors of good outcome.
serum electrolytes The neonate may be severely dehydrated. Electrolyte measures are required for monitoring purposes. serum electrolytes
The neonate may be severely dehydrated. Electrolyte measures are required for monitoring purposes.
Blood glucose level To monitor the blood glucose level. Blood glucose level
To monitor the blood glucose level.
Echocardiogram to screen for associated cardiac anomalies. Echocardiogram
to screen for associated cardiac anomalies.
Test for hearing ability Congenital diaphragmatic hernia may be associated with hearing impairment Test for hearing ability
Congenital diaphragmatic hernia may be associated with hearing impairment

Management - Supportive

Fact Explanation
Parent education and counseling Information should be provided regarding the diagnosis, complications and treatment options. Provide psychological support to the parents. Due to the high mortality rate, it is important to counsel the parents. Parent education and counseling
Information should be provided regarding the diagnosis, complications and treatment options. Provide psychological support to the parents. Due to the high mortality rate, it is important to counsel the parents.
If antenatal diagnosis has already made with posterolateral diaphragmatic hernia transfer the mother to a tertiary level pediatric surgical center before the deliver It is predictable that the baby will need cardio-respiratory support shortly after the birth and necessary surgical actions should be taken when the neonate is stable. If antenatal diagnosis has already made with posterolateral diaphragmatic hernia transfer the mother to a tertiary level pediatric surgical center before the deliver
It is predictable that the baby will need cardio-respiratory support shortly after the birth and necessary surgical actions should be taken when the neonate is stable.
Intensive cardio-respiratory support The newborn baby is likely to develop hypoxia. Non invasive Oxygen therapy should be given, avoid bag ventilation via face mask as this can cause air entering to the stomach and increasing the compression on the lungs. Hyperventilation of the lungs also should be avoided as it can induce complications like tension pneumothorax and barotrauma in small hypoplastic lungs. High frequency oscillatory ventilation in combination with Nitric Oxide has shown improve the survival rate. Intensive cardio-respiratory support
The newborn baby is likely to develop hypoxia. Non invasive Oxygen therapy should be given, avoid bag ventilation via face mask as this can cause air entering to the stomach and increasing the compression on the lungs. Hyperventilation of the lungs also should be avoided as it can induce complications like tension pneumothorax and barotrauma in small hypoplastic lungs. High frequency oscillatory ventilation in combination with Nitric Oxide has shown improve the survival rate.
Insertion of a nasogastric tube to the stomach To suck out the air from the bowel to prevent dilatation of bowel loops within the chest Insertion of a nasogastric tube to the stomach
To suck out the air from the bowel to prevent dilatation of bowel loops within the chest

Management - Specific

Fact Explanation
Surgical repair Surgery is often required to replace the abdominal organs within the abdominal cavity and repair the diaphragmatic defect. Previously surgery was recommended to be performed as early as possible. Current recommendation is for delayed surgical repair as it is preferred to wait till the neonate is stabilized. Both open and thoracoscopic approaches are currently used. It is important to provide cardio-respiratory support during and after the procedure. Extracorporeal membrane oxygenation [ECMO] is shown to be associated with increased survival. Surgical repair
Surgery is often required to replace the abdominal organs within the abdominal cavity and repair the diaphragmatic defect. Previously surgery was recommended to be performed as early as possible. Current recommendation is for delayed surgical repair as it is preferred to wait till the neonate is stabilized. Both open and thoracoscopic approaches are currently used. It is important to provide cardio-respiratory support during and after the procedure. Extracorporeal membrane oxygenation [ECMO] is shown to be associated with increased survival.
In-utero surgery This is newer modality of treatment which requires further evaluation. In-utero surgery aims at ligation or occlusion of the fetal trachea. This promotes fetal lung growth. Correction of the diaphragmatic defect itself is not possible. The appropriate timing timing, fetal gestation and prerequisites require further studies. In-utero surgery
This is newer modality of treatment which requires further evaluation. In-utero surgery aims at ligation or occlusion of the fetal trachea. This promotes fetal lung growth. Correction of the diaphragmatic defect itself is not possible. The appropriate timing timing, fetal gestation and prerequisites require further studies.

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