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Diaphragmatic hernia

MedGen UID:
5530
•Concept ID:
C0019284
•
Anatomical Abnormality
Synonyms: Diaphragmatic Hernia; Diaphragmatic Hernias; Hernia, Diaphragmatic; Hernias, Diaphragmatic
SNOMED CT: Diaphragmatic hernia (39839004)
 
Related genes: ZFPM2, PLS3

Definition

A congenital or acquired weakness or opening in the diaphragm which allows abdominal contents to protrude into the chest cavity; congenital diaphragmatic hernias are caused when the embryonic diaphragm fails to fuse. [from NCI]

Professional guidelines

PubMed

Congenital diaphragmatic hernia: current management strategies from antenatal diagnosis to long-term follow-up.
Kirby E, Keijzer R
Pediatr Surg Int 2020 Apr;36(4):415-429. Epub 2020 Feb 18 doi: 10.1007/s00383-020-04625-z. PMID: 32072236
Prenatal diagnosis, imaging, and prognosis in Congenital Diaphragmatic Hernia.
Cordier AG, Russo FM, Deprest J, Benachi A
Semin Perinatol 2020 Feb;44(1):51163. Epub 2019 Jul 30 doi: 10.1053/j.semperi.2019.07.002. PMID: 31439324
Congenital diaphragmatic hernia: pathogenesis, prenatal diagnosis and management - literature review.
Kosiński P, Wielgoś M
Ginekol Pol 2017;88(1):24-30. doi: 10.5603/GP.a2017.0005. PMID: 28157247

Recent clinical studies

Etiology

Another type of diaphragmatic hernia to remember: parahiatal hernia.
Li J, Guo C, Shao X, Cheng T, Wang Y
ANZ J Surg 2020 Nov;90(11):2180-2186. Epub 2020 May 1 doi: 10.1111/ans.15926. PMID: 32356615
Pre- and neonatal imaging of gastrointestinal complications in congenital diaphragmatic hernia.
Minkner K, Alamo L
Abdom Radiol (NY) 2018 Mar;43(3):574-582. doi: 10.1007/s00261-017-1246-9. PMID: 28695234
ECMO in CDH: Is there a role?
Kays DW
Semin Pediatr Surg 2017 Jun;26(3):166-170. Epub 2017 Apr 25 doi: 10.1053/j.sempedsurg.2017.04.006. PMID: 28641755
Congenital diaphragmatic hernia.
Leeuwen L, Fitzgerald DA
J Paediatr Child Health 2014 Sep;50(9):667-73. Epub 2014 Feb 17 doi: 10.1111/jpc.12508. PMID: 24528549
Recurrent diaphragmatic hernia.
Rowe DH, Stolar CJ
Semin Pediatr Surg 2003 May;12(2):107-9. doi: 10.1016/s1055-8586(02)00020-3. PMID: 12728396

Diagnosis

Incidence and outcomes of post-hepatectomy diaphragmatic hernia: a systematic review.
Cusumano C, Kansoun A, Kamga Tougoue F, de Mathelin P, Bachellier P, Addeo P
HPB (Oxford) 2023 Dec;25(12):1466-1474. Epub 2023 Aug 22 doi: 10.1016/j.hpb.2023.08.008. PMID: 37648598
Congenital diaphragmatic hernia: pathogenesis, prenatal diagnosis and management - literature review.
Kosiński P, Wielgoś M
Ginekol Pol 2017;88(1):24-30. doi: 10.5603/GP.a2017.0005. PMID: 28157247
Congenital diaphragmatic hernia.
Leeuwen L, Fitzgerald DA
J Paediatr Child Health 2014 Sep;50(9):667-73. Epub 2014 Feb 17 doi: 10.1111/jpc.12508. PMID: 24528549
Traumatic diaphragmatic injuries.
Scharff JR, Naunheim KS
Thorac Surg Clin 2007 Feb;17(1):81-5. doi: 10.1016/j.thorsurg.2007.03.006. PMID: 17650700
Recurrent diaphragmatic hernia.
Rowe DH, Stolar CJ
Semin Pediatr Surg 2003 May;12(2):107-9. doi: 10.1016/s1055-8586(02)00020-3. PMID: 12728396

Therapy

Neonatal surfactant therapy beyond respiratory distress syndrome.
Dargaville PA, Herting E, Soll RF
Semin Fetal Neonatal Med 2023 Dec;28(6):101501. Epub 2023 Nov 23 doi: 10.1016/j.siny.2023.101501. PMID: 38040584
Prenatal management of congenital diaphragmatic hernia.
Danzer E, Rintoul NE, van Meurs KP, Deprest J
Semin Fetal Neonatal Med 2022 Dec;27(6):101406. Epub 2022 Nov 17 doi: 10.1016/j.siny.2022.101406. PMID: 36456433
Randomized Trial of Fetal Surgery for Severe Left Diaphragmatic Hernia.
Deprest JA, Nicolaides KH, Benachi A, Gratacos E, Ryan G, Persico N, Sago H, Johnson A, Wielgoś M, Berg C, Van Calster B, Russo FM; TOTAL Trial for Severe Hypoplasia Investigators
N Engl J Med 2021 Jul 8;385(2):107-118. Epub 2021 Jun 8 doi: 10.1056/NEJMoa2027030. PMID: 34106556Free PMC Article
Randomized Trial of Fetal Surgery for Moderate Left Diaphragmatic Hernia.
Deprest JA, Benachi A, Gratacos E, Nicolaides KH, Berg C, Persico N, Belfort M, Gardener GJ, Ville Y, Johnson A, Morini F, Wielgoś M, Van Calster B, DeKoninck PLJ; TOTAL Trial for Moderate Hypoplasia Investigators
N Engl J Med 2021 Jul 8;385(2):119-129. Epub 2021 Jun 8 doi: 10.1056/NEJMoa2026983. PMID: 34106555Free PMC Article
Congenital diaphragmatic hernia.
Lally KP
Curr Opin Pediatr 2002 Aug;14(4):486-90. doi: 10.1097/00008480-200208000-00022. PMID: 12130916

Prognosis

Incidence and outcomes of post-hepatectomy diaphragmatic hernia: a systematic review.
Cusumano C, Kansoun A, Kamga Tougoue F, de Mathelin P, Bachellier P, Addeo P
HPB (Oxford) 2023 Dec;25(12):1466-1474. Epub 2023 Aug 22 doi: 10.1016/j.hpb.2023.08.008. PMID: 37648598
The perinatal revolution.
Malloy C, Wubbenhorst MC, Lee TS
Issues Law Med 2019 Spring;34(1):15-41. PMID: 31179670
ECMO in CDH: Is there a role?
Kays DW
Semin Pediatr Surg 2017 Jun;26(3):166-170. Epub 2017 Apr 25 doi: 10.1053/j.sempedsurg.2017.04.006. PMID: 28641755
Pallister-Killian syndrome.
Izumi K, Krantz ID
Am J Med Genet C Semin Med Genet 2014 Dec;166C(4):406-13. Epub 2014 Nov 25 doi: 10.1002/ajmg.c.31423. PMID: 25425112
Congenital diaphragmatic hernia.
Leeuwen L, Fitzgerald DA
J Paediatr Child Health 2014 Sep;50(9):667-73. Epub 2014 Feb 17 doi: 10.1111/jpc.12508. PMID: 24528549

Clinical prediction guides

Beyond the diaphragm and the lung: a multisystem approach to understanding congenital diaphragmatic hernia.
Antounians L, Zani A
Pediatr Surg Int 2023 May 9;39(1):194. doi: 10.1007/s00383-023-05471-5. PMID: 37160490
The role of magnetic resonance imaging in the diagnosis and prognostic evaluation of fetuses with congenital diaphragmatic hernia.
Amodeo I, Borzani I, Raffaeli G, Persico N, Amelio GS, Gulden S, Colnaghi M, Villamor E, Mosca F, Cavallaro G
Eur J Pediatr 2022 Sep;181(9):3243-3257. Epub 2022 Jul 7 doi: 10.1007/s00431-022-04540-6. PMID: 35794403Free PMC Article
Genetics of diaphragmatic hernia.
Schreiner Y, Schaible T, Rafat N
Eur J Hum Genet 2021 Dec;29(12):1729-1733. Epub 2021 Oct 8 doi: 10.1038/s41431-021-00972-0. PMID: 34621023Free PMC Article
Congenital diaphragmatic hernia.
Mehollin-Ray AR
Pediatr Radiol 2020 Dec;50(13):1855-1871. Epub 2020 Nov 30 doi: 10.1007/s00247-020-04718-w. PMID: 33252754
Update on Congenital Diaphragmatic Hernia.
Chatterjee D, Ing RJ, Gien J
Anesth Analg 2020 Sep;131(3):808-821. doi: 10.1213/ANE.0000000000004324. PMID: 31335403

Recent systematic reviews

Incidence and outcomes of post-hepatectomy diaphragmatic hernia: a systematic review.
Cusumano C, Kansoun A, Kamga Tougoue F, de Mathelin P, Bachellier P, Addeo P
HPB (Oxford) 2023 Dec;25(12):1466-1474. Epub 2023 Aug 22 doi: 10.1016/j.hpb.2023.08.008. PMID: 37648598
Fetal endoscopic tracheal occlusion for congenital diaphragmatic hernia: systematic review and meta-analysis.
Chen Y, Xu R, Xie X, Wang T, Yang Z, Chen J
Ultrasound Obstet Gynecol 2023 Jun;61(6):667-681. Epub 2023 May 11 doi: 10.1002/uog.26164. PMID: 36704940
Emanuel syndrome and congenital diaphragmatic hernia: A systematic review.
Adams LE, Chapman A, Cormack CL, Campbell K, Ebanks AH, Annibale DJ, Hollinger LE
J Pediatr Surg 2022 Sep;57(9):24-28. Epub 2021 Nov 20 doi: 10.1016/j.jpedsurg.2021.11.005. PMID: 34865829
Ventricular function in congenital diaphragmatic hernia: a systematic review and meta-analysis.
Prasad R, Saha B, Kumar A
Eur J Pediatr 2022 Mar;181(3):1071-1083. Epub 2021 Nov 1 doi: 10.1007/s00431-021-04303-9. PMID: 34725730
Prevalence and risk factors for congenital diaphragmatic hernia: A global view.
Paoletti M, Raffler G, Gaffi MS, Antounians L, Lauriti G, Zani A
J Pediatr Surg 2020 Nov;55(11):2297-2307. Epub 2020 Jun 20 doi: 10.1016/j.jpedsurg.2020.06.022. PMID: 32690291

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