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Overview
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Congenital Diaphragmatic Hernia
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EpidemiologyEdit
Congenital Diaphragmatic hernia (CDH) is a defect in the development of the diaphragm with an incidence of around 1/3000 births [1][2]. CDH is associated with variable degrees of pulmonary hypoplasia and postnatal pulmonary hypertension which account for the high mortality and most of the morbidity observed for this severe birth defect[3].
Hernia TypesEdit
CDH can be anatomically divided into three main subtypes; a posterolateral ‘Bochdalek’ hernia representing around 70% of cases, an anterior ‘Morgagni’ type, accounting for around 27% of cases, and a central septum transversum hernia which totals around 3% of cases.
The vast majority of hernias are left sided (85%), whilst the remainder are right sided (13%) or bilateral (2%) [4][5]. CDH occurs as an isolated defect in around 50% of cases, or as non-isolated CDH for the remainder in which additional congenital malformations are present [6].
Non-Isolated CDH (Syndromic CDH)Edit
Non-isolated CDH is associated with abnormalities in a number of other systems including; cardiovascular system (27.5%), urogenital system (17.7%), musculoskeletal system (15.7%), and central nervous system (9.8%) [6]. Non-isolated CDH may occur as part of a recognised syndrome for which a single causal gene may be identified. Alternatively, non-isolated CDH may be associated with structural rearrangements or genomic imbalances in specific genetic loci, or with a clinically recognised syndrome of currently unknown genetic cause such as Fryns syndrome.
Isolated CDHEdit
Isolated CDH is typically associated with pulmonary hypoplasia and pulmonary hypertension of variable severity. Few causal genes or genomic loci have been linked to cases of isolated CDH.
Prenatal Anatomical Imaging of Fetuses with CDHEdit
Claus et al recently review prenatal ultrasound and magnetic resonance imaging in the diagnosis and management of congenital diaphragmatic hernia (CDH) [7]
Evolution of the DiaphragmEdit
A recent review by Perry et al discusses the hypotheses of mammalian diaphragm evolution [8].
ReferencesEdit
- ↑ Torfs CP, Curry CJ, Bateson TF, Honoré LH (December 1992). A population-based study of congenital diaphragmatic hernia. Teratology 46 (6): 555–65.
- ↑ Skari H, Bjornland K, Haugen G, Egeland T, Emblem R (August 2000). Congenital diaphragmatic hernia: a meta-analysis of mortality factors. J. Pediatr. Surg. 35 (8): 1187–97.
- ↑ Keijzer R, Puri P (August 2010). Congenital diaphragmatic hernia. Semin. Pediatr. Surg. 19 (3): 180–5.
- ↑ van Loenhout RB, Tibboel D, Post M, Keijzer R (2009). Congenital diaphragmatic hernia: comparison of animal models and relevance to the human situation. Neonatology 96 (3): 137–49.
- ↑ Pober BR (May 2007). Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH. Am J Med Genet C Semin Med Genet 145C (2): 158–71.
- ↑ 6.0 6.1 Stoll C, Alembik Y, Dott B, Roth MP (2008). Associated malformations in cases with congenital diaphragmatic hernia. Genet. Couns. 19 (3): 331–9.
- ↑ Claus F, Sandaite I, Dekoninck P, Moreno O, Cruz Martinez R, Van Mieghem T, Gucciardo L, Richter J, Michielsen K, Decraene J, Devlieger R, Gratacos E, Deprest JA (November 2010). Prenatal Anatomical Imaging in Fetuses with Congenital Diaphragmatic Hernia. Fetal Diagn Ther.
- ↑ Perry SF, Similowski T, Klein W, Codd JR (April 2010). The evolutionary origin of the mammalian diaphragm. Respir Physiol Neurobiol 171 (1): 1–16.
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