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Congenital diaphragmatic hernia(DIH1)

MedGen UID:
327155
Concept ID:
C1840644
Congenital Abnormality
Synonyms: Agenesis of hemidiaphragm; Congenital diaphragmatic defect; DIH; DIH1; Unilateral agenesis of diaphragm
Modes of inheritance:
Multifactorial inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Sources: HPO, Orphanet
A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases.
 
Cytogenetic location: 15q26.1
OMIM®: 142340

Definition

Congenital diaphragmatic hernia (CDH) is characterized by: (1) incomplete formation/muscularization of the diaphragm resulting in absence or deficiency of the diaphragm, or (2) eventration resulting in elevation of a portion of the diaphragm that is thinned as a result of incomplete muscularization. Diaphragmatic hernias include posterolateral (Bochdalek) hernias, Morgagni and other anterior hernias, and (rarely) central hernias. About 50%-60% of affected individuals have isolated CDH; the remainder have complex CDH – that is, CDH occurring with additional malformations or as part of a single-gene disorder or chromosome abnormality. Infants with CDH often present in the neonatal period with severe respiratory distress; pulmonary hypoplasia is common. Presenting symptoms after infancy can be acute onset of respiratory or gastrointestinal distress or abdominal pain from chronic intestinal obstruction or pleural effusion from entrapment of the bowel in the chest. [from GTR]

Additional descriptions

From GeneReviews
Congenital diaphragmatic hernia (CDH) is characterized by: (1) incomplete formation/muscularization of the diaphragm resulting in absence or deficiency of the diaphragm, or (2) eventration resulting in elevation of a portion of the diaphragm that is thinned as a result of incomplete muscularization. Diaphragmatic hernias include posterolateral (Bochdalek) hernias, Morgagni and other anterior hernias, and (rarely) central hernias. About 50%-60% of affected individuals have isolated CDH; the remainder have complex CDH – that is, CDH occurring with additional malformations or as part of a single-gene disorder or chromosome abnormality. Infants with CDH often present in the neonatal period with severe respiratory distress; pulmonary hypoplasia is common. Presenting symptoms after infancy can be acute onset of respiratory or gastrointestinal distress or abdominal pain from chronic intestinal obstruction or pleural effusion from entrapment of the bowel in the chest.  https://www.ncbi.nlm.nih.gov/books/NBK1359
From OMIM
Congenital diaphragmatic hernia (CDH) refers to a group of congenital defects in the structural integrity of the diaphragm which are often associated with lethal pulmonary hypoplasia and pulmonary hypertension. Prevalence in newborns ranges from 1 in 2,500 to 1 in 4,000, and there is a 30 to 60% mortality rate (Langham et al., 1996; Harrison et al., 1994; Nobuhara et al., 1996). Most cases of congenital diaphragmatic hernia are sporadic. Genetic Heterogeneity of Diaphragmatic Hernia Congenital diaphragmatic hernia-1 (DIH1) maps to chromosome 15q26; DIH2 (222400) maps to chromosome 8p23; and DIH3 (610187) is associated with mutation in the ZFPM2 gene (603693). There is evidence for further genetic heterogeneity, including a possible X-linked form (306950). Congenital diaphragmatic hernia can also present with other congenital anomalies. Fryns syndrome (229850) may be the most common autosomal recessive syndrome with DIH as a cardinal feature (Slavotinek et al., 2005). See Holder et al. (2007) for a review of genetic factors in congenital diaphragmatic hernia. Pober (2008) reviewed genetic aspects of congenital diaphragmatic hernia, with emphasis on various syndromes in which CDH occurs along with other manifestations.  http://www.omim.org/entry/142340
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

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

Snoek KG, Reiss IK, Tibboel J, van Rosmalen J, Capolupo I, van Heijst A, Schaible T, Post M, Tibboel D
PLoS One 2016;11(5):e0155136. Epub 2016 May 9 doi: 10.1371/journal.pone.0155136. PMID: 27159222Free PMC Article
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
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
Takahashi S, Sago H, Kanamori Y, Hayakawa M, Okuyama H, Inamura N, Fujino Y, Usui N, Taguchi T
Pediatr Int 2013 Aug;55(4):492-7. doi: 10.1111/ped.12104. PMID: 23565971

Diagnosis

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
Bolino G, Gitto L, Serinelli S, Maiese A
Med Leg J 2015 Mar;83(1):51-3. Epub 2015 Jan 8 doi: 10.1177/0025817214554871. PMID: 25573226
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

Therapy

Putnam LR, Tsao K, Morini F, Lally PA, Miller CC, Lally KP, Harting MT; Congenital Diaphragmatic Hernia Study Group.
JAMA Pediatr 2016 Dec 1;170(12):1188-1194. doi: 10.1001/jamapediatrics.2016.2023. PMID: 27723858
Ali K, Bendapudi P, Polubothu S, Andradi G, Ofuya M, Peacock J, Hickey A, Davenport M, Nicolaides K, Greenough A
Eur J Pediatr 2016 Aug;175(8):1071-6. Epub 2016 Jun 8 doi: 10.1007/s00431-016-2742-6. PMID: 27279014
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
Snoek KG, Capolupo I, van Rosmalen J, Hout Lde J, Vijfhuize S, Greenough A, Wijnen RM, Tibboel D, Reiss IK; CDH EURO Consortium.
Ann Surg 2016 May;263(5):867-74. doi: 10.1097/SLA.0000000000001533. PMID: 26692079
Schaible T, Kohl T, Reinshagen K, Brade J, Neff KW, Stressig R, Büsing KA
Pediatr Crit Care Med 2012 Jan;13(1):66-71. doi: 10.1097/PCC.0b013e3182192aa9. PMID: 21478793

Prognosis

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
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
Takahashi S, Sago H, Kanamori Y, Hayakawa M, Okuyama H, Inamura N, Fujino Y, Usui N, Taguchi T
Pediatr Int 2013 Aug;55(4):492-7. doi: 10.1111/ped.12104. PMID: 23565971

Clinical prediction guides

Snoek KG, Reiss IK, Tibboel J, van Rosmalen J, Capolupo I, van Heijst A, Schaible T, Post M, Tibboel D
PLoS One 2016;11(5):e0155136. Epub 2016 May 9 doi: 10.1371/journal.pone.0155136. PMID: 27159222Free PMC Article
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
Takahashi S, Sago H, Kanamori Y, Hayakawa M, Okuyama H, Inamura N, Fujino Y, Usui N, Taguchi T
Pediatr Int 2013 Aug;55(4):492-7. doi: 10.1111/ped.12104. PMID: 23565971
Schaible T, Kohl T, Reinshagen K, Brade J, Neff KW, Stressig R, Büsing KA
Pediatr Crit Care Med 2012 Jan;13(1):66-71. doi: 10.1097/PCC.0b013e3182192aa9. PMID: 21478793

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
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
DeKoninck P, Gomez O, Sandaite I, Richter J, Nawapun K, Eerdekens A, Ramirez JC, Claus F, Gratacos E, Deprest J
BJOG 2015 Jun;122(7):940-6. Epub 2014 Sep 17 doi: 10.1111/1471-0528.13065. PMID: 25227954
Lally KP, Lasky RE, Lally PA, Bagolan P, Davis CF, Frenckner BP, Hirschl RM, Langham MR, Buchmiller TL, Usui N, Tibboel D, Wilson JM; Congenital Diaphragmatic Hernia Study Group.
J Pediatr Surg 2013 Dec;48(12):2408-15. doi: 10.1016/j.jpedsurg.2013.08.014. PMID: 24314179

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