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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

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
Diagnosis and management of congenital diaphragmatic hernia: a clinical practice guideline.
Canadian Congenital Diaphragmatic Hernia Collaborative, Puligandla PS, Skarsgard ED, Offringa M, Adatia I, Baird R, Bailey M, Brindle M, Chiu P, Cogswell A, Dakshinamurti S, Flageole H, Keijzer R, McMillan D, Oluyomi-Obi T, Pennaforte T, Perreault T, Piedboeuf B, Riley SP, Ryan G, Synnes A, Traynor M
CMAJ 2018 Jan 29;190(4):E103-E112. doi: 10.1503/cmaj.170206. PMID: 29378870Free PMC Article
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
Thoracoscopic Neonatal Congenital Diaphragmatic Hernia Repair: How We Do It.
Rideout DA, Wulkan M
J Laparoendosc Adv Surg Tech A 2021 Oct;31(10):1168-1174. Epub 2021 Sep 27 doi: 10.1089/lap.2021.0420. PMID: 34569855
Thoracic Surgery in the Pregnant Patient.
Whang B
Thorac Surg Clin 2018 Feb;28(1):1-7. Epub 2017 Oct 18 doi: 10.1016/j.thorsurg.2017.08.002. PMID: 29150031
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
Diaphragmatic hernia.
Cairns AM, Ewig JM
Pediatr Rev 1996 Mar;17(3):102. doi: 10.1542/pir.17-3-102. PMID: 8685059

Diagnosis

Diaphragmatic injuries and post-traumatic diaphragmatic hernias.
Petrone P, Asensio JA, Marini CP
Curr Probl Surg 2017 Jan;54(1):11-32. Epub 2016 Nov 29 doi: 10.1067/j.cpsurg.2016.11.001. PMID: 28212818
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
Traumatic diaphragmatic hernia.
Wardi G, Lasoff D, Cobb A, Hayden S
J Emerg Med 2014 Jan;46(1):80-2. Epub 2013 Oct 7 doi: 10.1016/j.jemermed.2013.08.032. PMID: 24113484
Esophageal hiatal hernia.
Ellis FH Jr
N Engl J Med 1972 Sep 28;287(13):646-9. doi: 10.1056/NEJM197209282871307. PMID: 4561830
Traumatic diaphragmatic hernia.
Hood RM
Ann Thorac Surg 1971 Sep;12(3):311-24. doi: 10.1016/s0003-4975(10)65131-4. PMID: 4941632

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
Diaphragmatic hernia after left intrapericardial pneumonectomy.
Marín Herrero MI, de la Vega Olías MDC, Pérez Benítez MA, Vega Ruiz V
Cir Esp (Engl Ed) 2023 Nov;101(11):799. Epub 2022 Nov 22 doi: 10.1016/j.cireng.2022.11.008. PMID: 36423877
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
The lost intrauterine device.
Berzenji L, Hosten L, Van Schil P
Eur J Cardiothorac Surg 2021 Dec 1;60(6):1477. doi: 10.1093/ejcts/ezab274. PMID: 34113970
An overview of medical ECMO for neonates.
Fletcher K, Chapman R, Keene S
Semin Perinatol 2018 Mar;42(2):68-79. Epub 2018 Jan 12 doi: 10.1053/j.semperi.2017.12.002. PMID: 29336834

Prognosis

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.
Bohn D
Am J Respir Crit Care Med 2002 Oct 1;166(7):911-5. doi: 10.1164/rccm.200204-304CC. PMID: 12359645
Trauma to the diaphragm.
Mansour KA
Chest Surg Clin N Am 1997 May;7(2):373-83. PMID: 9156298
Diaphragmatic hernia.
Cairns AM, Ewig JM
Pediatr Rev 1996 Mar;17(3):102. doi: 10.1542/pir.17-3-102. PMID: 8685059
Congenital diaphragmatic hernia.
Puri P
Curr Probl Surg 1994 Oct;31(10):787-846. doi: 10.1016/0011-3840(94)90028-0. PMID: 7924420

Clinical prediction guides

Congenital diaphragmatic hernia: a single-centre experience at Kepler University Hospital Linz.
Hofer A, Huber G, Greiner R, Pernegger J, Zahedi R, Hornath F
Wien Med Wochenschr 2022 Oct;172(13-14):296-302. Epub 2021 Oct 6 doi: 10.1007/s10354-021-00885-z. PMID: 34613518Free 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
Growth trajectory and neurodevelopmental outcome in infants with congenital diaphragmatic hernia.
Antiel RM, Lin N, Licht DJ, Hoffman C, Waqar L, Xiao R, Monos S, D'Agostino JA, Bernbaum J, Herkert LM, Rintoul NE, Peranteau WH, Flake AW, Adzick NS, Hedrick HL
J Pediatr Surg 2017 Dec;52(12):1944-1948. Epub 2017 Sep 28 doi: 10.1016/j.jpedsurg.2017.08.063. PMID: 29079316

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
Prenatal detection of pulmonary hypoplasia in fetuses with congenital diaphragmatic hernia: a systematic review and meta-analysis of diagnostic studies.
Knox E, Lissauer D, Khan K, Kilby M
J Matern Fetal Neonatal Med 2010 Jul;23(7):579-88. doi: 10.3109/14767050903551400. PMID: 20085507

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