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Diaphragmatic hernia 2(DIH2)

MedGen UID:
347411
Concept ID:
C1857284
Anatomical Abnormality
Synonyms: DIH2
 
Cytogenetic location: 8p23.1
OMIM®: 222400

Definition

Congenital diaphragmatic hernia is a defect in the diaphragm. The diaphragm, which is composed of muscle and other fibrous tissue, separates the organs in the abdomen from those in the chest. Abnormal development of the diaphragm before birth leads to defects ranging from a thinned area in the diaphragm to its complete absence. An absent or partially formed diaphragm results in an abnormal opening (hernia) that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs. This crowding can lead to underdevelopment of the lungs (pulmonary hypoplasia), potentially resulting in life-threatening breathing difficulties that are apparent from birth.In 5 to 10 percent of affected individuals, signs and symptoms of congenital diaphragmatic hernia appear later in life and may include breathing problems or abdominal pain from protrusion of the intestine into the chest cavity. In about 1 percent of cases, congenital diaphragmatic hernia has no symptoms; it may be detected incidentally when medical imaging is done for other reasons.Congenital diaphragmatic hernias are often classified by their position. A Bochdalek hernia is a defect in the side or back of the diaphragm. Between 80 and 90 percent of congenital diaphragmatic hernias are of this type. A Morgnani hernia is a defect involving the front part of the diaphragm. This type of congenital diaphragmatic hernia, which accounts for approximately 2 percent of cases, is less likely to cause severe symptoms at birth. Other types of congenital diaphragmatic hernia, such as those affecting the central region of the diaphragm, or those in which the diaphragm muscle is absent with only a thin membrane in its place, are rare. [from GTR]

Additional description

From GHR
Congenital diaphragmatic hernia is a defect in the diaphragm. The diaphragm, which is composed of muscle and other fibrous tissue, separates the organs in the abdomen from those in the chest. Abnormal development of the diaphragm before birth leads to defects ranging from a thinned area in the diaphragm to its complete absence. An absent or partially formed diaphragm results in an abnormal opening (hernia) that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs. This crowding can lead to underdevelopment of the lungs (pulmonary hypoplasia), potentially resulting in life-threatening breathing difficulties that are apparent from birth.In 5 to 10 percent of affected individuals, signs and symptoms of congenital diaphragmatic hernia appear later in life and may include breathing problems or abdominal pain from protrusion of the intestine into the chest cavity. In about 1 percent of cases, congenital diaphragmatic hernia has no symptoms; it may be detected incidentally when medical imaging is done for other reasons.Congenital diaphragmatic hernias are often classified by their position. A Bochdalek hernia is a defect in the side or back of the diaphragm. Between 80 and 90 percent of congenital diaphragmatic hernias are of this type. A Morgnani hernia is a defect involving the front part of the diaphragm. This type of congenital diaphragmatic hernia, which accounts for approximately 2 percent of cases, is less likely to cause severe symptoms at birth. Other types of congenital diaphragmatic hernia, such as those affecting the central region of the diaphragm, or those in which the diaphragm muscle is absent with only a thin membrane in its place, are rare.  https://ghr.nlm.nih.gov/condition/congenital-diaphragmatic-hernia

Clinical features

Agenesis of the diaphragm
MedGen UID:
67455
Concept ID:
C0221360
Congenital Abnormality
Congenital lack, i.e., aplasia of the diaphragm.
Congenital diaphragmatic hernia
MedGen UID:
68625
Concept ID:
C0235833
Disease or Syndrome
Diaphragmatic hernia that is present at birth.
Congenital diaphragmatic hernia
MedGen UID:
68625
Concept ID:
C0235833
Disease or Syndrome
Diaphragmatic hernia that is present at birth.

Recent clinical studies

Etiology

Belfort MA, Olutoye OO, Cass DL, Olutoye OA, Cassady CI, Mehollin-Ray AR, Shamshirsaz AA, Cruz SM, Lee TC, Mann DG, Espinoza J, Welty SE, Fernandes CJ, Ruano R
Obstet Gynecol 2017 Jan;129(1):20-29. doi: 10.1097/AOG.0000000000001749. PMID: 27926636
Snoek KG, Capolupo I, Morini F, van Rosmalen J, Greenough A, van Heijst A, Reiss IK, IJsselstijn H, Tibboel D; Congenital Diaphragmatic Hernia EURO Consortium.
Pediatr Crit Care Med 2016 Jun;17(6):540-6. doi: 10.1097/PCC.0000000000000738. PMID: 27104681
Zhu Y, Wu Y, Pu Q, Ma L, Liao H, Liu L
Hernia 2016 Apr;20(2):297-302. Epub 2015 Oct 5 doi: 10.1007/s10029-015-1423-0. PMID: 26438082Free PMC Article
Bouchghoul H, Senat MV, Storme L, de Lagausie P, Begue L, Khen-Dunlop N, Bouyer J, Benachi A; Center for Rare Diseases for Congenital Diaphragmatic Hernia.
Am J Obstet Gynecol 2015 Oct;213(4):535.e1-7. Epub 2015 Jun 10 doi: 10.1016/j.ajog.2015.06.012. PMID: 26070705
Benjamin G, Ashfaq A, Chang YH, Harold K, Jaroszewski D
Hernia 2015 Aug;19(4):635-43. Epub 2015 Mar 5 doi: 10.1007/s10029-015-1363-8. PMID: 25739716

Diagnosis

Wakai S, Otsuka H, Aoki H, Yamagiwa T, Nakagawa Y, Inokuchi S
Tokai J Exp Clin Med 2017 Jul 20;42(2):85-88. PMID: 28681368
Blancha VL, Ratner V, Aspelund G, Chai P, Levasseur S, Krishnan U, Bacha E, Krishnamurthy G
World J Pediatr Congenit Heart Surg 2017 Mar;8(2):239-241. Epub 2016 Jul 7 doi: 10.1177/2150135116632509. PMID: 27154795
Snoek KG, Capolupo I, Morini F, van Rosmalen J, Greenough A, van Heijst A, Reiss IK, IJsselstijn H, Tibboel D; Congenital Diaphragmatic Hernia EURO Consortium.
Pediatr Crit Care Med 2016 Jun;17(6):540-6. doi: 10.1097/PCC.0000000000000738. PMID: 27104681
Bouchghoul H, Senat MV, Storme L, de Lagausie P, Begue L, Khen-Dunlop N, Bouyer J, Benachi A; Center for Rare Diseases for Congenital Diaphragmatic Hernia.
Am J Obstet Gynecol 2015 Oct;213(4):535.e1-7. Epub 2015 Jun 10 doi: 10.1016/j.ajog.2015.06.012. PMID: 26070705
Benjamin G, Ashfaq A, Chang YH, Harold K, Jaroszewski D
Hernia 2015 Aug;19(4):635-43. Epub 2015 Mar 5 doi: 10.1007/s10029-015-1363-8. PMID: 25739716

Therapy

Belfort MA, Olutoye OO, Cass DL, Olutoye OA, Cassady CI, Mehollin-Ray AR, Shamshirsaz AA, Cruz SM, Lee TC, Mann DG, Espinoza J, Welty SE, Fernandes CJ, Ruano R
Obstet Gynecol 2017 Jan;129(1):20-29. doi: 10.1097/AOG.0000000000001749. PMID: 27926636
Radhakrishnan R, Merhar S, Meinzen-Derr J, Haberman B, Lim FY, Burns P, Zorn E, Kline-Fath B
AJNR Am J Neuroradiol 2016 Sep;37(9):1745-51. Epub 2016 May 5 doi: 10.3174/ajnr.A4787. PMID: 27151752
Snoek KG, Capolupo I, Morini F, van Rosmalen J, Greenough A, van Heijst A, Reiss IK, IJsselstijn H, Tibboel D; Congenital Diaphragmatic Hernia EURO Consortium.
Pediatr Crit Care Med 2016 Jun;17(6):540-6. doi: 10.1097/PCC.0000000000000738. PMID: 27104681
Zhu Y, Wu Y, Pu Q, Ma L, Liao H, Liu L
Hernia 2016 Apr;20(2):297-302. Epub 2015 Oct 5 doi: 10.1007/s10029-015-1423-0. PMID: 26438082Free PMC Article
Benjamin G, Ashfaq A, Chang YH, Harold K, Jaroszewski D
Hernia 2015 Aug;19(4):635-43. Epub 2015 Mar 5 doi: 10.1007/s10029-015-1363-8. PMID: 25739716

Prognosis

Belfort MA, Olutoye OO, Cass DL, Olutoye OA, Cassady CI, Mehollin-Ray AR, Shamshirsaz AA, Cruz SM, Lee TC, Mann DG, Espinoza J, Welty SE, Fernandes CJ, Ruano R
Obstet Gynecol 2017 Jan;129(1):20-29. doi: 10.1097/AOG.0000000000001749. PMID: 27926636
Blancha VL, Ratner V, Aspelund G, Chai P, Levasseur S, Krishnan U, Bacha E, Krishnamurthy G
World J Pediatr Congenit Heart Surg 2017 Mar;8(2):239-241. Epub 2016 Jul 7 doi: 10.1177/2150135116632509. PMID: 27154795
Radhakrishnan R, Merhar S, Meinzen-Derr J, Haberman B, Lim FY, Burns P, Zorn E, Kline-Fath B
AJNR Am J Neuroradiol 2016 Sep;37(9):1745-51. Epub 2016 May 5 doi: 10.3174/ajnr.A4787. PMID: 27151752
Snoek KG, Capolupo I, Morini F, van Rosmalen J, Greenough A, van Heijst A, Reiss IK, IJsselstijn H, Tibboel D; Congenital Diaphragmatic Hernia EURO Consortium.
Pediatr Crit Care Med 2016 Jun;17(6):540-6. doi: 10.1097/PCC.0000000000000738. PMID: 27104681
Bouchghoul H, Senat MV, Storme L, de Lagausie P, Begue L, Khen-Dunlop N, Bouyer J, Benachi A; Center for Rare Diseases for Congenital Diaphragmatic Hernia.
Am J Obstet Gynecol 2015 Oct;213(4):535.e1-7. Epub 2015 Jun 10 doi: 10.1016/j.ajog.2015.06.012. PMID: 26070705

Clinical prediction guides

Belfort MA, Olutoye OO, Cass DL, Olutoye OA, Cassady CI, Mehollin-Ray AR, Shamshirsaz AA, Cruz SM, Lee TC, Mann DG, Espinoza J, Welty SE, Fernandes CJ, Ruano R
Obstet Gynecol 2017 Jan;129(1):20-29. doi: 10.1097/AOG.0000000000001749. PMID: 27926636
Radhakrishnan R, Merhar S, Meinzen-Derr J, Haberman B, Lim FY, Burns P, Zorn E, Kline-Fath B
AJNR Am J Neuroradiol 2016 Sep;37(9):1745-51. Epub 2016 May 5 doi: 10.3174/ajnr.A4787. PMID: 27151752
Snoek KG, Capolupo I, Morini F, van Rosmalen J, Greenough A, van Heijst A, Reiss IK, IJsselstijn H, Tibboel D; Congenital Diaphragmatic Hernia EURO Consortium.
Pediatr Crit Care Med 2016 Jun;17(6):540-6. doi: 10.1097/PCC.0000000000000738. PMID: 27104681
Bouchghoul H, Senat MV, Storme L, de Lagausie P, Begue L, Khen-Dunlop N, Bouyer J, Benachi A; Center for Rare Diseases for Congenital Diaphragmatic Hernia.
Am J Obstet Gynecol 2015 Oct;213(4):535.e1-7. Epub 2015 Jun 10 doi: 10.1016/j.ajog.2015.06.012. PMID: 26070705
Benjamin G, Ashfaq A, Chang YH, Harold K, Jaroszewski D
Hernia 2015 Aug;19(4):635-43. Epub 2015 Mar 5 doi: 10.1007/s10029-015-1363-8. PMID: 25739716

Recent systematic reviews

Russo FM, Eastwood MP, Keijzer R, Al-Maary J, Toelen J, Van Mieghem T, Deprest JA
Ultrasound Obstet Gynecol 2017 Jun;49(6):704-713. Epub 2017 Apr 26 doi: 10.1002/uog.16000. PMID: 27312047
Zhu Y, Wu Y, Pu Q, Ma L, Liao H, Liu L
Hernia 2016 Apr;20(2):297-302. Epub 2015 Oct 5 doi: 10.1007/s10029-015-1423-0. PMID: 26438082Free PMC Article
Shan W, Wu Y, Huang G, Zeng L, Miao, Yuan, Huang L, Xiang B, Jiang X
J Pak Med Assoc 2014 Jun;64(6):686-9. PMID: 25252491
Haroon J, Chamberlain RS
Clin Pediatr (Phila) 2013 Feb;52(2):115-24. doi: 10.1177/0009922812472249. PMID: 23378478
Danzer E, Hedrick HL
Early Hum Dev 2011 Sep;87(9):625-32. Epub 2011 Jun 2 doi: 10.1016/j.earlhumdev.2011.05.005. PMID: 21640525

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