Congenital diaphragmatic hernia is an abnormality present from birth and is characterized by protrusion of abdominal organs into the thorax due to incomplete development of the diaphragm. As a result, the lungs of neonates are under significant pressure and pulmonary hypoplasia with hypertension are some of the most important complications that put the patient at risk soon after birth. Because both respiratory and gastrointestinal distress can occur, an early diagnosis is pivotal. A physical examination coupled with ultrasonography (either antenatal or postnatal) are the critical components of the workup.
The features of a congenital diaphragmatic hernia arise due to compression of the respiratory system by the protruding abdominal organs into the thorax   . Although the exact pathogenesis model remains to be elucidated, it is suspected that incomplete muscularization of the diaphragm promotes the formation of hernias, and approximately half of all neonates have isolated congenital diaphragmatic hernia without additional genetic malformations . The compressive effects of abdominal contents on the lungs eventually lead to pulmonary hypoplasia and the development of pulmonary hypertension   . These pathological events predispose neonates to respiratory (but also gastrointestinal) distress, which can be life-threatening in the absence of an early diagnosis    . Typical signs include displacement of heart sounds to the contralateral side, protrusion of the sternum with a characteristic "scaphoid abdomen" (as the organs move into the chest), abdominal pain due to intestinal obstruction, and either absence or markedly reduced respiratory bruits   . The most common clinical presentation, however, is severe respiratory insufficiency, often confirmed by low Apgar scores  . Some individuals may be asymptomatic in the neonatal period and develop bouts of respiratory distress in later life, whereas congenital diaphragmatic hernia can be incidentally diagnosed as well .
Entire Body System
- Weight Gain
We provide simple, single page, feeding supplementation sheets in three age groups: 0-6months, 6-12months and 12-24months that have proven useful for enhancing weight gain in our patients. Copyright © 2017. Published by Elsevier Ltd. [ncbi.nlm.nih.gov]
Those who continue to struggle with weight gain may need a second operation to place a gastrostomy (feeding tube placed into the stomach). Even with additional feedings, some babies still have trouble gaining weight. [mottchildren.org]
Traffic accidents and falls cause the majority of blunt injuries. Penetrating injuries are usually due to stab or gunshot wounds. Surgery on the abdomen or chest may also cause accidental damage to your diaphragm. [healthline.com]
Ex utero removal was a fall-back procedure. In utero removal does not seem to precipitate immediate membrane rupture, labor, or delivery, although the design of the study did not allow for a formal conclusion. [ncbi.nlm.nih.gov]
Most babies with CDH fall somewhere in between these extreme ends of the spectrum. [ucsfbenioffchildrens.org]
The diaphragm is the sheet of muscle that helps your baby to breathe by rising and falling with his breath. It also does the important job of separating your baby's chest from his tummy. [babycentre.co.uk]
- Developmental Disorder
disorders,  and musculoskeletal disorders.  Partridge et al analyzed outcomes in right-side CDH as compared with left-side CDH and found that whereas the former did not have a higher mortality, it was associated with increased need for pulmonary [emedicine.medscape.com]
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders. [ncbi.nlm.nih.gov]
- Weight Loss
Weight loss surgery is available to teens who have been in the Healthy Lifestyles Program for at least six months and meet certain qualifications. [dukechildrens.org]
- Respiratory Insufficiency
Early neonatal death occurred immediately after full-term birth due to severe respiratory insufficiency. [ncbi.nlm.nih.gov]
Definition / general Defective closure of diaphragm, usually left sided Hernia sac usually contains all / part of stomach May cause newborn respiratory insufficiency Gross images Contributed by Dr. [pathologyoutlines.com]
The most common clinical presentation, however, is severe respiratory insufficiency, often confirmed by low Apgar scores. [symptoma.com]
Severe respiratory insufficiency persisted after the surgery; the infant could not be withdrawn from extracorporeal membrane oxygenation, resulting in early neonatal death on postnatal day 15. [jsum.or.jp]
aftózna stomatitída, abdominálna hernia English dyspepsia, aphthous stomatitis, abdominal hernia Last Update: 2017-04-26 Usage Frequency: 1 Quality: Slovak Časté: nauzea, vracanie, hiátová hernia, gastroezofageálna refluxná choroba English Common: Nausea [mymemory.translated.net]
The presented case report describes a 9-year-old girl presenting with acute abdominal pain, nausea and vomiting caused by a left-side Bochdalek hernia. After diagnostic procedures a scheduled surgical procedure was performed on the patient. [monz.pl]
Increasing severity of pulmonary hypertension is associated with increasing mortality. [patient.info]
Patients with mild pulmonary hypoplasia and reversible pulmonary hypertension may undergo surgery after resolution of the pulmonary hypertension and improvement of the lung compliance, usually after 5 – 10 days. [scielo.org.co]
* Hernias, Diaphragmatic, Congenital/diagnosis Hernias, Diaphragmatic, Congenital/physiopathology Hernias, Diaphragmatic, Congenital/therapy Humans Hypertension, Pulmonary/etiology Hypertension, Pulmonary/physiopathology Hypertension, Pulmonary/therapy [ncbi.nlm.nih.gov]
- Heart Disease
CDH is associated with pulmonary hypoplasia, congenital heart disease, and pulmonary hypertension. Genetically, it is associated with aneuploidies, chromosomal copy-number variants, and single gene mutations. [ncbi.nlm.nih.gov]
- Visual Impairment
It may be found during a preventative eye examination if there is a known family history of a visual impairment, or it may found during an eye examination when another visual impairment has been previously identified. [familyconnect.org]
LOOK UK supports young people (up to age 29) and families of children living with a visual impairment. [rnib.org.uk]
It is advised to seek early support for visually impaired children. [news-medical.net]
In this situation, parents often have the impression that the child is not significantly visually impaired, when that is not the case. Most children with CHARGE have multiple anomalies, especially hearing loss. [chargesyndrome.org]
Visual prognosis varies according to the severity and site of the ocular malformation. Coloboma is an important cause of childhood visual impairment and blindness. Epidemiology The estimated incidence of coloboma is about 1 in 10,000 births. [patient.info]
The diagnosis of a congenital diaphragmatic hernia must be made as soon as possible. Postnatal signs of respiratory distress, low Apgar scores, diminished heart sounds, and the typical appearance of the abdomen are findings that must raise suspicion towards congenital diaphragmatic hernia. Thus, the physician plays a crucial role when performing a physical examination after birth. Arterial blood gas (ABG) analysis and pH levels are needed to assess the extent of impaired oxygenation . To confirm the diagnosis, imaging modalities must be used. Ultrasonography has become the gold standard for detecting diaphragmatic and several other anomalies and should be performed whenever sufficient evidence is gathered    . More importantly, antenatal ultrasonography, which is readily used throughout pregnancy, has shown to be quite successful in recognizing this congenital anomaly as early as 24 weeks of gestation   . Herniation of the intestines and/or the liver into the thorax, a displaced gall bladder, smaller lungs, and polyhydramnios are prominent findings . Additional imaging studies that can be used are plain radiography of the chest and abdomen, as well as fetal magnetic resonance imaging (MRI), which is highly useful if ultrasonography results are inconclusive   .
[…] the effects of acidosis and hypercapnia on early postoperative outcomes. [ncbi.nlm.nih.gov]
High frequency respiratory support is reserved for those patients that fail to respond to the conventional therapy and have persistent hypoxia and hypercapnia. [scielo.org.co]
Spontaneous ventilation or high frequency, low pressure ventilation (<20-25 cm H2O), no relaxation, alkalinization and adoption of modest gasometric goals (pre-ductal saturation of 80-95%, PaO2 60 mm Hg, hypercapnia <60 mm Hg) are now the standard. [orpha.net]
The UCSF Fetal Treatment Center was the first facility in the world to offer treatment for congenital diaphragmatic hernia while a baby is still in the womb. [ucsfbenioffchildrens.org]
Treatments Doctors at Riley at IU Health treat CDH in two stages. [rileychildrens.org]
When a CDH is diagnosed or suspected during pregnancy, treatment is coordinated through Boston Children's Advanced Fetal Care Center. [childrenshospital.org]
Diaphragmatic hernia recurrence was strongest associated with ECMO treatment in combination with patch repair, while SBO's were associated with patch repair, with an unexpected protective effect of ECMO treatment. [ncbi.nlm.nih.gov]
Sometimes, babies don't have any other congenital problems, but some babies with diaphragmatic hernia also have complex syndromes that can complicate treatment. [childrens.com]
In the CDH group, especially in the poor prognosis group, LLSIR did not significantly increase as pregnancy progressed [regression line for good prognosis = 1.827 + 0.092 × (gestational week-23), r = 0.733; regression line for poor prognosis = 1.731 + [ncbi.nlm.nih.gov]
Prognosis Pulmonary hypoplasia, persistent pulmonary hypertension and surfactant deficiency are largely responsible for the outcome. [patient.info]
Overall infant mortality was 32.5%, and varied considerably by underlying etiology (isolated 21%; multiple 44%; syndromic 82%). [ncbi.nlm.nih.gov]
Congenital diaphragmatic hernias Summary Epidemiology Etiology Clinical features Diagnostics Differential diagnoses Treatment Complications [amboss.com]
We did a comprehensive review of research trends, evidence based studies and epidemiologic studies. CDH is a life-threatening pathology in infants, and a major cause of death due to the pulmonary hypoplasia and pulmonary hypertension. [ncbi.nlm.nih.gov]
Epidemiology Epidemiological data refers to the US, unless otherwise specified. [amboss.com]
Summary Epidemiology CDH is a rare condition occuring in 1-5/10,000 births. Clinical description Newborns display respiratory distress with hypoxia, excavated abdomen with sternal protrusion and in severe cases low APGAR scores at 1 and 5 minutes. [orpha.net]
Pulmonary pathology and pathophysiology, including pulmonary hypoplasia and pulmonary hypertension, are hallmarks of CDH and are associated with disease severity. [ncbi.nlm.nih.gov]
Initial theories about the pathophysiology of this condition centered on the presence of the herniated viscera within the chest and the need for its prompt removal. [emedicine.medscape.com]
There is no known cause or prevention and treatment remains medically challenging and costly. [petition.parliament.uk]
Currently, there is no known way to prevent a CDH. Early and regular prenatal care during pregnancy is important to help detect the problem before birth. This allows for proper planning and care before, during, and after delivery. [healthline.com]
CDC funds the Centers for Birth Defects Research and Prevention, which collaborates on large studies, such as the National Birth Defects Prevention Study (NBDPS; births 1997-2011) and the Birth Defects Study to Evaluate Pregnancy exposureS (BD-STEPS; [cdc.gov]
We report a case of antenatally diagnosed left-sided congenital diaphragmatic hernia, managed on venovenous extracorporeal membrane oxygenation with an hemodynamic and ventilation strategy aimed at preventing left and right ventricular dysfunction. [ncbi.nlm.nih.gov]
- Pober BR, Russell MK, Ackerman KG. Congenital Diaphragmatic Hernia Overview. 2006 Feb 1 [Updated 2010 Mar 16]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
- Tovar JA. Congenital Diaphragmatic Hernia. Orphanet J Rare Dis. 2012;7:1.
- Kotecha S, Barbato A, Bush A, et al. Congenital diaphragmatic hernia. Eur Respir J. 2012;39(4):820-829.
- Keijzer R, Puri P. Congenital diaphragmatic hernia. Semin Pediatr Surg. 2010;19(3):180-185.
- Garne E, Haeusler M, Barisic I, et al. Congenital diaphragmatic hernia: evaluation of prenatal diagnosis in 20 European regions. Ultrasound Obstet Gynecol 2002;19:329–333.
- Chandrasekharan PK, Rawat M, Madappa R, Rothstein DH, Lakshminrusimha S. Congenital Diaphragmatic hernia – a review. Matern Health Neonatol Perinatol. 2017;3:6.