Bochdalek hernia

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Bochdalek hernia
Diaphragma.png
"Bochdalek", at lumbocostal triangle, labeled in bottom left (Captions in German.)
Specialty Thoracic surgery
Differential diagnosis Diaphragmatic rupture [1]
FrequencyRare [2]

Bochdalek hernia is one of two forms of a congenital diaphragmatic hernia, the other form being Morgagni hernia. A Bochdalek hernia is a congenital abnormality in which an opening exists in the infant's diaphragm, allowing normally intra-abdominal organs (particularly the stomach and intestines) to enter into the thoracic cavity. In the majority of people, the affected lung will be deformed, [3] and the resulting lung compression can be life-threatening. Bochdalek hernias occur more commonly on the posterior left side (85%, versus right side 15%).

Contents

Bochdalek hernias are rare. [2] This type of hernia was first described in 1754 by McCauley and subsequently studied and named after the Czech pathologist Vincenz Alexander Bochdalek (1801–1883). [2]

Signs and symptoms

Children

In normal Bochdalek hernia cases, the symptoms are often observable simultaneously with the baby's birth. A few of the symptoms of a Bochdalek Hernia include difficulty breathing, fast respiration and increased heart rate. If the baby appears to have cyanosis (blue-tinted skin) this can also be a sign. [4] Another way to identify a baby with Bochdalek hernia, is to look at the chest immediately after birth. If the baby has a Bochdalek hernia it may appear that one side of the chest cavity is larger than the other and/or the abdomen seems to be caved in. [5]

Adults

Symptoms rarely develop in adults. [1] If symptoms do occur, they may be vague and related to the gastrointestinal tract. [1] This may include pain or signs of a bowel obstruction. [2]

Causes

Most likely, Bochdalek hernias are formed throughout the growth process and organ construction during fetal development. During fetal development, the diaphragm is formed between the seventh and tenth week. Also, during this time, the esophagus, stomach, and intestines are formed. Therefore, a Bochdalek hernia forms either from malformation of the diaphragm, or the intestines become locked into the chest cavity during the construction of the diaphragm. Although these are some factors that contribute to a Bochdalek hernia, it does not take all variables into account. Bochdalek hernias, along with Morgagni hernias, are both multifactor conditions, meaning that there are many reasons and multiple variables that contribute to the malformations. For example, in each case, there could be genetic and or environmental condition(s) that can add to the probability of this birth defect. [5]

Diagnosis

Treatment

Children

There are different pathways for treatment available. The first step in treatment includes the baby's admission into the NICU (Neonatal Intensive Care Unit). [5] The preferred path of treatment for most Bochdalek Hernia is that babies who are admitted in the NICU, are placed on a mechanical ventilator to help breathing. Very rarely will the hernia be small enough that it is not noticed. It is more likely to be asymptomatic if it is on the right side of the chest. If the infant cannot be stabilized using medical treatments and mechanical ventilation, the alternate pathway involves putting the infants on a temporary heart/lung bypass machine, called ECMO, which stands for extra-corporeal membrane oxygenation. [5] ECMO allows oxygen to be regulated into the blood and then pumps the blood throughout the entire body. Normally, this machine is used to stabilize the baby's condition. It is preferred to stabilize the infant prior to surgery, to minimize complications, if possible. The only treatment is surgery. [6]

After the baby is stable and his or her state has improved, the diaphragm can be fixed and the misplaced organs can be relocated to their correct position. That is either done via primary repair where the remaining diaphragm is stretched to cover the hole, or an abdominal muscle is split so it can be used to stretch over the hole, and the last option is with a Gore-Tex patch, which has higher risks of later infection or re-herniation. [5] Although these are various treatments for Bochdalek Hernias, it does not guarantee the baby will survive. [5] Since the baby must go through some or all of the previous treatments, the baby's hospital stay is usually longer than that of a "normal" newborn. The average infants born with a Bochdalek Hernia stay in the hospital between 23.1 and 26.8 days. [7]

Adults

If the disorder is diagnosed in an adult and they remain without symptoms no specific treatment is required. [1] In those who are symptomatic surgery may be carried out by an open or closed approach. [2]

Prognosis

Bochdalek hernia can be a life-threatening condition. Approximately 85.3% of newborns born with a Bochdalek hernia are immediately high risk. [8] Infants born with a Bochdalek hernia have a "high mortality rate due to respiratory insufficiency". [9] Between 25 and 60% of infants with a Bochdalek hernia die. [7] The lungs, diaphragm, and digestive system are all forming at the same time, so when a Bochdalek hernia permits the abdominal organs to invade the chest cavity rather than remain under the diaphragm in the correct position, it puts the infant in critical condition. These "foreign bodies" in the chest cavity compress the lungs, impairing their proper development and causing pulmonary hypoplasia. [5] Since the lungs of infants suffering from a Bochdalek hernia have fewer alveoli than normal lungs, Bochdalek hernias are life-threatening conditions due to respiratory distress. [5]

More individualized prognosis for infants depends on several factors, including where the infant is born, the amount of herniation into the thoracic cavity, whether the liver is in the thorax as well, and other malformations including heart defects. [10]

For best outcomes, the fetus should be diagnosed prenatally and delivered at a tertiary hospital with ECMO capabilities. [14] Different centers manage differently and have different outcomes. Some families temporarily relocate to be at the CDH surgical center of choice.

Epidemiology

Bochdalek hernias make up about 0.17% to 6% of all diaphragmatic hernia cases when they appear spontaneously in adults and about one in every 2200 to 12,500 births every year. [4] Babies who are born with a Bochdalek hernia are more than likely to have another birth defect caused by the hernia. About twenty percent of those children born with a Bochdalek hernia, also have a congenital heart defect. In addition, infants born with this condition may also have other abnormalities. "Between five and sixteen [percent of infants] have a chromosomal abnormality." [5] In most cases, left-sided hernias or Bochdalek hernias have a ratio of 3:2 of males to females. In other words, Bochdalek hernias are more common in men.

Mnemonic

A useful way to remember the localization of this hernia vs. Morgagni is "Bochdalek is back and to the left" (re the postero-lateral localization).

Related Research Articles

<span class="mw-page-title-main">Hernia</span> Abnormal exit of tissues or organs from the cavity they usually reside in

A hernia is the abnormal exit of tissue or an organ, such as the bowel, through the wall of the cavity in which it normally resides. The term is also used for the normal development of the intestinal tract, referring to the retraction of the intestine from the extra-embryonal navel coelom into the abdomen in the healthy embryo at about 7½ weeks.

<span class="mw-page-title-main">Hiatal hernia</span> Entrance of abdominal organs into the middle chest through the diaphragm

A hiatal hernia or hiatus hernia is a type of hernia in which abdominal organs slip through the diaphragm into the middle compartment of the chest. This may result in gastroesophageal reflux disease (GERD) or laryngopharyngeal reflux (LPR) with symptoms such as a taste of acid in the back of the mouth or heartburn. Other symptoms may include trouble swallowing and chest pains. Complications may include iron deficiency anemia, volvulus, or bowel obstruction.

<span class="mw-page-title-main">Thoracic diaphragm</span> Sheet of internal skeletal muscle

The thoracic diaphragm, or simply the diaphragm, is a sheet of internal skeletal muscle in humans and other mammals that extends across the bottom of the thoracic cavity. The diaphragm is the most important muscle of respiration, and separates the thoracic cavity, containing the heart and lungs, from the abdominal cavity: as the diaphragm contracts, the volume of the thoracic cavity increases, creating a negative pressure there, which draws air into the lungs. Its high oxygen consumption is noted by the many mitochondria and capillaries present; more than in any other skeletal muscle.

<span class="mw-page-title-main">Polyhydramnios</span> Excess of amniotic fluid in the amniotic sac

Polyhydramnios is a medical condition describing an excess of amniotic fluid in the amniotic sac. It is seen in about 1% of pregnancies. It is typically diagnosed when the amniotic fluid index (AFI) is greater than 24 cm. There are two clinical varieties of polyhydramnios: chronic polyhydramnios where excess amniotic fluid accumulates gradually, and acute polyhydramnios where excess amniotic fluid collects rapidly.

<span class="mw-page-title-main">Pediatric surgery</span> Medical subspecialty of surgery performed by pediatrics

Pediatric surgery is a subspecialty of surgery involving the surgery of fetuses, infants, children, adolescents, and young adults.

<span class="mw-page-title-main">Pulmonary sequestration</span> Medical condition

A pulmonary sequestration is a medical condition wherein a piece of tissue that ultimately develops into lung tissue is not attached to the pulmonary arterial blood supply, as is the case in normally developing lung. This sequestered tissue is therefore not connected to the normal bronchial airway architecture, and fails to function in, and contribute to, respiration of the organism.

<span class="mw-page-title-main">Congenital diaphragmatic hernia</span> Medical condition

Congenital diaphragmatic hernia (CDH) is a birth defect of the diaphragm. The most common type of CDH is a Bochdalek hernia; other types include Morgagni hernia, diaphragm eventration and central tendon defects of the diaphragm. Malformation of the diaphragm allows the abdominal organs to push into the chest cavity, hindering proper lung formation.

<span class="mw-page-title-main">Umbilical hernia</span> Medical condition

An umbilical hernia is a health condition where the abdominal wall behind the navel is damaged. It may cause the navel to bulge outwards—the bulge consisting of abdominal fat from the greater omentum or occasionally parts of the small intestine. The bulge can often be pressed back through the hole in the abdominal wall, and may "pop out" when coughing or otherwise acting to increase intra-abdominal pressure. Treatment is surgical, and surgery may be performed for cosmetic as well as health-related reasons.

<span class="mw-page-title-main">Diaphragmatic hernia</span> Medical condition

Diaphragmatic hernia is a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity. Treatment is usually surgical.

<span class="mw-page-title-main">EXIT procedure</span>

The EXIT procedure, or ex utero intrapartum treatment procedure, is a specialized surgical delivery procedure used to deliver babies who have airway compression. Causes of airway compression in newborn babies result from a number of rare congenital disorders, including bronchopulmonary sequestration, congenital cystic adenomatoid malformation, mouth or neck tumor such as teratoma, and lung or pleural tumor such as pleuropulmonary blastoma. Airway compression discovered at birth is a medical emergency. In many cases, however, the airway compression is discovered during prenatal ultrasound exams, permitting time to plan a safe delivery using the EXIT procedure or other means.

<span class="mw-page-title-main">Simpson–Golabi–Behmel syndrome</span> Congenital disorder

Simpson–Golabi–Behmel syndrome (SGBS) is a rare inherited congenital disorder that can cause craniofacial, skeletal, vascular, cardiac, and renal abnormalities. There is a high prevalence of cancer associated in those with SGBS which includes wilms tumors, neuroblastoma, tumors of the adrenal gland, liver, lungs and abdominal organs. The syndrome is inherited in an X-linked recessive manner. Females that possess one copy of the mutation are considered to be carriers of the syndrome but may still express varying degrees of the phenotype, suffering mild to severe malady. Males experience a higher likelihood of fetal death.

<span class="mw-page-title-main">Pentalogy of Cantrell</span> Birth defects of the diaphragm, abdominal wall, pericardium, heart and lower sternum

Pentalogy of Cantrell is an extremely rare congenital syndrome that causes defects involving the diaphragm, abdominal wall, pericardium, heart and lower sternum.

Ectopia cordis or ectopic heart is a congenital malformation in which the heart is abnormally located either partially or totally outside of the thorax. The ectopic heart can be found along a spectrum of anatomical locations, including the neck, chest, or abdomen. In most cases, the heart protrudes outside the chest through a split sternum.

The Fetal Treatment Center at the University of California, San Francisco is a multidisciplinary care center dedicated to the diagnosis, treatment, and long-term follow-up of fetal birth defects. It combines the talents of specialists in pediatric surgery, genetics, obstetrics/perinatology, radiology, nursing, and neonatal medicine.

<span class="mw-page-title-main">Diaphragmatic rupture</span> Tear in the thoracic diaphragm

Diaphragmatic rupture is a tear of the diaphragm, the muscle across the bottom of the ribcage that plays a crucial role in breathing. Most commonly, acquired diaphragmatic tears result from physical trauma. Diaphragmatic rupture can result from blunt or penetrating trauma and occurs in about 0.5% of all people with trauma.

<span class="mw-page-title-main">Pulmonary hypoplasia</span> Congenital disorder of respiratory system

Pulmonary hypoplasia is an incomplete development of the lungs, resulting in an abnormally low number or small size of bronchopulmonary segments or alveoli. A congenital malformation, most often occurs secondary to other fetal abnormalities that interfere with normal development of the lungs. Primary (idiopathic) pulmonary hypoplasia is rare and usually not associated with other maternal or fetal abnormalities.

<span class="mw-page-title-main">Fryns syndrome</span> Medical condition

Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in the neonatal period. Fryns (1987) reviewed the syndrome.

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<span class="mw-page-title-main">Pulmonary agenesis</span> Medical condition

Pulmonary agenesis is an inborn lung underdevelopment that is rare and potentially lethal. The disorder is caused by a complete developmental arrest of the primitive lung during embryonic life, and it is often associated with other developmental defects. Bilateral and unilateral pulmonary agenesis are classified, depending on whether one side of the lung or both sides are affected. Bilateral pulmonary agenesis is lethal, while the mortality rate of unilateral pulmonary agenesis is higher than 50%. Depending on the severity, the symptom ranges from none to various respiratory complaints. It is detectable prenatally, however, its nonspecific clinical features act as the obstacle for diagnosing. The exact cause of pulmonary agenesis is still obscure. However, theories have been raised regarding the vascular, iatrogenic, viral and genetic causes of pulmonary agenesis in an attempt to explain the pathogenesis of the disorder. In most cases of pulmonary agenesis, surgical resection is performed to remove the malformed lobe or the entire defected lung of the patient depending on the severity of the respiratory impairment.

Meacham syndrome is a rare genetic disorder which is characterized by lung, diaphragmatic and genitourinary anomalies.

References

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