- Congenital diaphragmatic hernia
Congenital diaphragmatic hernia Classification and external resources
Morgagni's hernia seen on an X-thorax.
ICD-10 Q79.0 ICD-9 756.6 OMIM 142340 222400 DiseasesDB 32489 MedlinePlus 001135 eMedicine ped/2603 MeSH D006548
Congenital diaphragmatic hernia (CDH) is a congenital malformation (birth defect) of the diaphragm. The most common type of CDH is a Bochdalek hernia; other types include Morgagni's hernia, diaphragm eventration and central tendon defects of the diaphragm. Malformation of the diaphragm allows the abdominal organs to push into the proper lung formation.
CDH is a life-threatening pathology in infants, and a major cause of death due to two complications: pulmonary hypoplasia and pulmonary hypertension. Experts disagree on the relative importance of these two conditions, with some focusing on hypoplasia, others on hypertension. Newborns with CDH often have severe respiratory distress which can be life-threatening unless treated appropriately.
Types of congenital diaphragmatic hernia
The Bochdalek hernia, also known as a postero-lateral diaphragmatic hernia, is the most common manifestation of CDH, accounting for more than 95% of cases. In this instance the diaphragm abnormality is characterized by a hole in the postero-lateral corner of the diaphragm which allows passage of the abdominal viscera into the chest cavity. The majority of Bochdalek hernias (80-85%) occur on the left side of the diaphragm, a large proportion of the remaining cases occur on the right side, and a small fraction are bilateral i.e., left and right sided defects.
This rare anterior defect of the diaphragm is variably referred to as Morgagni’s, retrosternal, or parasternal hernia. Accounting for approximately 2% of all CDH cases, it is characterised by herniation through the foramina of Morgagni which are located immediately adjacent to the xiphoid process of the sternum. The majority of hernias occur on the right side of the body and are generally asymptomatic; However newborns may present with respiratory distress at birth similar to Bochdalek hernia. Additionally, recurrent chest infections and gastrointestinal symptoms have been reported in those with previously undiagnosed Morgagni's hernia. In asymptomatic individuals laparoscopic surgical repair is still recommended as they are at risk of a strangulated intestine.
The diagnosis of congenital diaphragmatic eventration is used when there is abnormal displacement (i.e. elevation) of part or all of an otherwise intact diaphragm into the chest cavity. This rare type of CDH occurs because in the region of eventration the diaphragm is thinner, allowing the abdominal viscera to protrude upwards. This thinning is thought to occur because of incomplete muscularisation of the diaphragm, and can be found unilaterally or bilaterally. Minor forms of diaphragm eventration are asymptomatic, however in severe cases infants will present with respiratory distress similar to Bochdalek hernia.
It involves three major defects.
- A failure of the diaphragm to completely close during development.
- Herniation of the abdominal contents into the chest
- Pulmonary hypoplasia
Morbidity and mortality
Congenital Diaphragmatic Hernia has a mortality rate of 40-62%, outcomes being more favorable in the absence of other congenital abnormalities. Individual rates vary greatly dependent upon multiple factors; size of hernia, organs involved, additional birth defects or genetic problems, amount of lung growth, age and size at birth, type of treatments, timing of treatments, complications such as infections and lack of lung function.
Presentation and diagnosis
This condition can often be diagnosed before birth and fetal intervention can sometimes help, depending on the severity of the condition. Infants born with diaphragmatic hernia experience respiratory failure due to both pulmonary hypertension and pulmonary hypoplasia. The first condition is a restriction of blood flow through the lungs thought to be caused by defects in the lung. Pulmonary hypoplasia or decreased lung volume is directly related to the abdominal organs presence in the chest cavity which causes the lungs to be severely undersized, especially on the side of the hernia.
Survival rates for infants with this condition vary, but have generally been increasing through advances in neonatal medicine. Work has been done to correlate survival rates to ultrasound measurements of the lung volume as compared to the baby's head circumference. This figure known as the lung to head ratio (LHR).
First step in management is orogastric tube placement and securing the airway (intubation). The baby will usually be immediately placed on a ventilator. ECMO has been used as part of the treatment strategy at some hospitals.
Diaphragm eventration is typically repaired thoracoscopically, by a technique called plication of the diaphragm. Plication basically involves a folding of the eventrated diaphragm which is then sutured in order to “take up the slack” of the excess diaphragm tissue.
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- CDH UK - A registered fund-raising charity in the United Kingdom offering information, advice and support to everyone affected by Congenital Diaphragmatic Hernia
- DHREAMS (Diaphragmatic Hernia Research & Exploration; Advancing Molecular Science) Congential Diaphragmatic Hernia (CDH) Program at Columbia University Medical Center, New York
- Congenital Diaphragmatic Hernia Program at Children's Hospital Boston
- CHERUBS - The Association of Congenital Diaphragmatic Hernia Research, Awareness and Support, International Non-profit organization for families and medical professionals
- GeneReviews: Congenital Diaphragmatic Hernia Overview
- Congenital Diaphragmatic Hernia: The University of Michigan Fetal Diagnosis & Treatment Center
- Congenital Diaphragmatic Hernia: The Center for Fetal Diagnosis and Treatment at The Children's Hospital of Philadelphia
- Fetal Care Center of Cincinnati: Fetal Surgery for Congenital Diaphrahmatic Hernia / CDH
- Breath of Hope - Public Non-profit Support and Awareness Organization
- Real Hope for CDH: Hope and Support for parents facing CDH
- Hope, Patience, Trust: The Journey of having a baby with CDH
- Global CDH - Aid for Congenital Diaphragmatic Hernia
- CDH Rainbows - Informational website for those affected by the birth defect known as congenital diaphragmatic hernia
Congenital diaphragm and abdominal wall defects, abdominopelvic cavity (Q79.0–Q79.5, 756.6–756.7) Thoracic diaphragm Abdominal wall
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