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Diaphragmatic hernia

MedGen UID:
5530
•Concept ID:
C0019284
•
Disease or Syndrome
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

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: Management & Outcomes.
Dingeldein M
Adv Pediatr 2018 Aug;65(1):241-247. Epub 2018 Jun 12 doi: 10.1016/j.yapd.2018.05.001. PMID: 30053927
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
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
Congenital diaphragmatic hernia.
Keijzer R, Puri P
Semin Pediatr Surg 2010 Aug;19(3):180-5. doi: 10.1053/j.sempedsurg.2010.03.001. PMID: 20610190
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

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
Traumatic diaphragmatic hernia.
Adamthwaite DN
Surg Annu 1983;15:73-97. PMID: 6353640

Therapy

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
Prenatal diagnosis and management of congenital diaphragmatic hernia.
Basurto D, Russo FM, Van der Veeken L, Van der Merwe J, Hooper S, Benachi A, De Bie F, Gomez O, Deprest J
Best Pract Res Clin Obstet Gynaecol 2019 Jul;58:93-106. Epub 2019 Jan 5 doi: 10.1016/j.bpobgyn.2018.12.010. PMID: 30772144
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

Prognosis

The perinatal revolution.
Malloy C, Wubbenhorst MC, Lee TS
Issues Law Med 2019 Spring;34(1):15-41. PMID: 31179670
Giant hiatal hernias.
Lesinski J, Zielonka TM, Wajtryt O, Peplinska K, Kaszynska A
Adv Respir Med 2019;87(1):54-62. Epub 2019 Mar 4 doi: 10.5603/ARM.a2019.0009. PMID: 30830959
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

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
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
Predicting outcomes in congenital diaphragmatic hernia.
Daodu O, Brindle ME
Semin Pediatr Surg 2017 Jun;26(3):136-139. Epub 2017 Apr 24 doi: 10.1053/j.sempedsurg.2017.04.010. PMID: 28641750

Recent systematic reviews

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
Relationship between volume and outcome for surgery on congenital diaphragmatic hernia: A systematic review.
Morche J, Mathes T, Jacobs A, Pietsch B, Wessel L, Gruber S, Neugebauer EAM, Pieper D
J Pediatr Surg 2020 Dec;55(12):2555-2565. Epub 2020 Apr 1 doi: 10.1016/j.jpedsurg.2020.03.025. PMID: 32376012
Surgical approaches for neonatal congenital diaphragmatic hernia: a systematic review and meta-analysis.
Terui K, Nagata K, Ito M, Yamoto M, Shiraishi M, Taguchi T, Hayakawa M, Okuyama H, Yoshida H, Masumoto K, Kanamori Y, Goishi K, Urushihara N, Kawataki M, Inamura N, Kimura O, Okazaki T, Toyoshima K, Usui N
Pediatr Surg Int 2015 Oct;31(10):891-7. Epub 2015 Aug 18 doi: 10.1007/s00383-015-3765-1. PMID: 26280741

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