Congenital Diaphragmatic Hernia

Common Name(s)

Congenital Diaphragmatic Hernia

Congenital diaphragmatic hernia (CDH) refers to a group of congenital defects in the structural integrity of the diaphragm which are often associated with lethal pulmonary hypoplasia and pulmonary hypertension. Prevalence in newborns ranges from 1 in 2,500 to 1 in 4,000, and there is a 30 to 60% mortality rate ({22:Langham et al., 1996}; {14:Harrison et al., 1994}; {25:Nobuhara et al., 1996}). Most cases of congenital diaphragmatic hernia are sporadic. Genetic Heterogeneity of Diaphragmatic Hernia Congenital diaphragmatic hernia-1 (DIH1) maps to chromosome 15q26; DIH2 ({222400}) maps to chromosome 8p23; and DIH3 ({610187}) is associated with mutation in the ZFPM2 gene ({603693}). There is evidence for further genetic heterogeneity, including a possible X-linked form ({306950}). Congenital diaphragmatic hernia can also present with other congenital anomalies. Fryns syndrome ({229850}) may be the most common autosomal recessive syndrome with DIH as a cardinal feature ({31:Slavotinek et al., 2005}). See {15:Holder et al. (2007)} for a review of genetic factors in congenital diaphragmatic hernia. {28:Pober (2008)} reviewed genetic aspects of congenital diaphragmatic hernia, with emphasis on various syndromes in which CDH occurs along with other manifestations.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital Diaphragmatic Hernia" for support, advocacy or research.

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Breath of Hope

Breath of Hope exists to raise awareness of congenital diaphragmatic hernia by working with parents, family members, and medical professionals to educate and support all who are affected by or want to learn more about CDH.

Last Updated: 15 Feb 2013

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Breath of Hope, Incorporated

Breath of Hope exists to raise awareness of congenital diaphragmatic hernia by working with parents, family members, and medical professionals to educate and support all who are affected by or want to learn more about CDH.

Last Updated: 19 Aug 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital Diaphragmatic Hernia" for support, advocacy or research.

Logo
Breath of Hope

Breath of Hope exists to raise awareness of congenital diaphragmatic hernia by working with parents, family members, and medical professionals to educate and support all who are affected by or want to learn more about CDH.

http://www.breathofhopeinc.com

Last Updated: 15 Feb 2013

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Breath of Hope, Incorporated

Breath of Hope exists to raise awareness of congenital diaphragmatic hernia by working with parents, family members, and medical professionals to educate and support all who are affected by or want to learn more about CDH.

http://www.breathofhopeinc.com

Last Updated: 19 Aug 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Congenital Diaphragmatic Hernia" returned 300 free, full-text research articles on human participants. First 3 results:

Congenital Diaphragmatic Hernia.
 

Author(s): Jared Klein, Megan Sirota

Journal: N. Engl. J. Med.. 2017 Oct;377(17):e25.

 

Last Updated: 25 Oct 2017

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Risk factors for postoperative mortality in congenital diaphragmatic hernia: a single-centre observational study.
 

Author(s): Darya Kadir, Helene Engstrand Lilja

Journal: Pediatr. Surg. Int.. 2017 Mar;33(3):317-323.

 

The management of congenital diaphragmatic hernia (CDH) is a major challenge. The mortality is dependent on associated malformations, the severity of pulmonary hypoplasia, pulmonary hypertension and iatrogenic lung injury associated with aggressive mechanical ventilation. The aims ...

Last Updated: 17 Dec 2016

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Congenital Diaphragmatic Hernia Defect Size and Infant Morbidity at Discharge.
 

Author(s): Luke R Putnam, Matthew T Harting, Kuojen Tsao, Francesco Morini, Bradley A Yoder, Matías Luco, Pamela A Lally, Kevin P Lally,

Journal: Pediatrics. 2016 Nov;138(5):.

 

Survival for infants with congenital diaphragmatic hernia (CDH) has gradually improved, yet substantial burden of disease remains. Although larger CDH defect sizes increase mortality, the association between defect size and morbidity has not been reported. Our objective was to evaluate ...

Last Updated: 12 Dec 2016

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Congenital Diaphragmatic Hernia" returned 35 free, full-text review articles on human participants. First 3 results:

Polygenic Causes of Congenital Diaphragmatic Hernia Produce Common Lung Pathologies.
 

Author(s): Patricia K Donahoe, Mauro Longoni, Frances A High

Journal: Am. J. Pathol.. 2016 Oct;186(10):2532-43.

 

Congenital diaphragmatic hernia (CDH) is one of the most common and lethal congenital anomalies, and significant evidence is available in support of a genetic contribution to its etiology, including single-gene knockout mice associated with diaphragmatic defects, rare monogenetic ...

Last Updated: 23 Sep 2016

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Lung size and liver herniation predict need for extracorporeal membrane oxygenation but not pulmonary hypertension in isolated congenital diaphragmatic hernia: systematic review and meta-analysis.
 

Author(s): F M Russo, M P Eastwood, R Keijzer, J Al-Maary, J Toelen, T Van Mieghem, J A Deprest

Journal: Ultrasound Obstet Gynecol. 2017 Jun;49(6):704-713.

 

To identify antenatal predictors of persistent pulmonary hypertension (PPH) and the need for extracorporeal membrane oxygenation (ECMO) in fetuses with congenital diaphragmatic hernia (CDH).

Last Updated: 17 Jun 2016

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Acute gastric volvulus and congenital diaphragmatic hernia, case report and review.
 

Author(s): Laura Pérez-Egido, Alberto Parente, Julio Arturo Cerdá

Journal: Afr J Paediatr Surg. ;12(3):200-2.

 

Congenital diaphragmatic hernia (CDH) is the result of the incomplete fusion and closure of the pleuroperitoneal canal during the fetal development. CDH is usually diagnosed prenatally but, if undiagnosed, the clinical presentation ranges from asymptomatic children to serious respiratory ...

Last Updated: 27 Nov 2015

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Fetal Endotracheal Occlusion (FETO) in Severe and Extremely Severe Congenital Diaphragmatic Hernia
 

Status: Recruiting

Condition Summary: Congenital Diaphragmatic Hernia

 

Last Updated: 22 Jun 2017

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Delayed Cord Clamping for Congenital Diaphragmatic Hernia
 

Status: Recruiting

Condition Summary: Congenital Diaphragmatic Hernia

 

Last Updated: 2 Nov 2017

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Gene Mutations and Rescue in Human Congenital Diaphragmatic Hernia
 

Status: Recruiting

Condition Summary: Congenital Diaphragmatic Hernia

 

Last Updated: 16 Dec 2015

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