U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Diagnosis and management of congenital diaphragmatic hernia: a 2023 update from the Canadian Congenital Diaphragmatic Hernia Collaborative.
Puligandla P, Skarsgard E, Baird R, Guadagno E, Dimmer A, Ganescu O, Abbasi N, Altit G, Brindle M, Fernandes S, Dakshinamurti S, Flageole H, Hebert A, Keijzer R, Offringa M, Patel D, Ryan G, Traynor M, Zani A, Chiu P; Canadian Congenital Diaphragmatic Hernia Collaborative
Arch Dis Child Fetal Neonatal Ed 2024 Apr 18;109(3):239-252. doi: 10.1136/archdischild-2023-325865. PMID: 37879884
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

Long-term follow-up in congenital diaphragmatic hernia.
Pollack JC, Hollinger LE, Buchmiller TL, Jancelewicz T
Semin Pediatr Surg 2024 Aug;33(4):151443. Epub 2024 Jul 2 doi: 10.1016/j.sempedsurg.2024.151443. PMID: 38972214
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
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
Congenital diaphragmatic hernia.
Arora M, Bajpai M, Soni TR, Prasad TR
Indian J Pediatr 2000 Sep;67(9):665-70. doi: 10.1007/BF02762181. PMID: 11028121

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.
McHoney M
Early Hum Dev 2014 Dec;90(12):941-6. Epub 2014 Oct 18 doi: 10.1016/j.earlhumdev.2014.09.013. PMID: 25448786

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
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
Congenital diaphragmatic hernia.
McHoney M
Early Hum Dev 2014 Dec;90(12):941-6. Epub 2014 Oct 18 doi: 10.1016/j.earlhumdev.2014.09.013. PMID: 25448786

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
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
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...