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Complete atrioventricular canal-ventricle hypoplasia syndrome

MedGen UID:
1842918
Concept ID:
C5680290
Congenital Abnormality
Synonyms: CAVC type B; CAVC with ventricular hypoplasia; CAVC-ventricle hypoplasia syndrome; Complete atrioventricular canal defect with ventricular hypoplasia; complete atrioventricular canal type B; complete atrioventricular canal-ventricle hypoplasia syndrome; Complete atrioventricular septal defect with ventricular hypoplasia; Complete atrioventricular septal defect with ventricular imbalance; Complete AVSD with ventricular hypoplasia; Unbalanced complete atrioventricular canal
 
Monarch Initiative: MONDO:0020407
Orphanet: ORPHA99067

Professional guidelines

PubMed

Lin AE, Basson CT, Goldmuntz E, Magoulas PL, McDermott DA, McDonald-McGinn DM, McPherson E, Morris CA, Noonan J, Nowak C, Pierpont ME, Pyeritz RE, Rope AF, Zackai E, Pober BR
Genet Med 2008 Jul;10(7):469-94. doi: 10.1097/gim.0b013e3181772111. PMID: 18580689Free PMC Article
Berg C, Knüppel M, Geipel A, Kohl T, Krapp M, Knöpfle G, Germer U, Hansmann M, Gembruch U
Ultrasound Obstet Gynecol 2006 Mar;27(3):274-80. doi: 10.1002/uog.2704. PMID: 16456841
Nowinski K, Gadler F, Jensen-Urstad M, Bergfeldt L
Am J Med 2002 Nov;113(7):596-602. doi: 10.1016/s0002-9343(02)01274-3. PMID: 12459407

Recent clinical studies

Etiology

Evans WN, Acherman RJ, Ciccolo ML, Lehoux J, Restrepo H
Clin Pediatr (Phila) 2023 Feb;62(2):132-135. Epub 2022 Jul 31 doi: 10.1177/00099228221114933. PMID: 35912687
Fong LS, Betts K, Ayer J, Andrews D, Nicholson IA, Winlaw DS, Orr Y; Australian CAVSD study group
Eur J Cardiothorac Surg 2021 Dec 27;61(1):45-53. doi: 10.1093/ejcts/ezab221. PMID: 34002204
Liu X, Wang S, Guo X, Li Y, Ogurlu R, Lu F, Prondzynski M, de la Serna Buzon S, Ma Q, Zhang D, Wang G, Cotton J, Guo Y, Xiao L, Milan DJ, Xu Y, Schlame M, Bezzerides VJ, Pu WT
Circulation 2021 May 11;143(19):1894-1911. Epub 2021 Apr 1 doi: 10.1161/CIRCULATIONAHA.120.048698. PMID: 33793303Free PMC Article
Carvalho JS
Best Pract Res Clin Obstet Gynaecol 2019 Jul;58:28-41. Epub 2019 Jan 9 doi: 10.1016/j.bpobgyn.2019.01.002. PMID: 30738635
Brignole M
Clin Geriatr Med 2002 May;18(2):211-27. doi: 10.1016/s0749-0690(02)00006-x. PMID: 12180244

Diagnosis

Evans WN, Acherman RJ, Ciccolo ML, Lehoux J, Restrepo H
Clin Pediatr (Phila) 2023 Feb;62(2):132-135. Epub 2022 Jul 31 doi: 10.1177/00099228221114933. PMID: 35912687
Carvalho JS
Best Pract Res Clin Obstet Gynaecol 2019 Jul;58:28-41. Epub 2019 Jan 9 doi: 10.1016/j.bpobgyn.2019.01.002. PMID: 30738635
Durak I, Kudaiberdieva G, Gorenek B
Expert Rev Cardiovasc Ther 2015 Jan;13(1):85-94. Epub 2014 Dec 5 doi: 10.1586/14779072.2015.987127. PMID: 25479322
Brignole M
Clin Geriatr Med 2002 May;18(2):211-27. doi: 10.1016/s0749-0690(02)00006-x. PMID: 12180244
Bergfeldt L
Ann Intern Med 1997 Oct 15;127(8 Pt 1):621-9. doi: 10.7326/0003-4819-127-8_part_1-199710150-00007. PMID: 9341061

Therapy

Sharma AK, Singh S, Bhat M, Gill K, Zaid M, Kumar S, Shakya A, Tantray J, Jose D, Gupta R, Yangzom T, Sharma RK, Sahu SK, Rathore G, Chandolia P, Singh M, Mishra A, Raj S, Gupta A, Agarwal M, Kifayat S, Gupta A, Gupta P, Vashist A, Vaibhav P, Kathuria N, Yadav V, Singh RP, Garg A
Sci Rep 2023 Sep 29;13(1):16420. doi: 10.1038/s41598-023-41942-4. PMID: 37775650Free PMC Article
Carvalho JS
Best Pract Res Clin Obstet Gynaecol 2019 Jul;58:28-41. Epub 2019 Jan 9 doi: 10.1016/j.bpobgyn.2019.01.002. PMID: 30738635
Raju V, Burkhart HM, Rigelman Hedberg N, Eidem BW, Li Z, Connolly H, Schaff HV, Dearani JA
Ann Thorac Surg 2013 Jun;95(6):2079-84; discussion 2084-5. Epub 2013 Apr 18 doi: 10.1016/j.athoracsur.2013.02.016. PMID: 23602064
Brignole M
Clin Geriatr Med 2002 May;18(2):211-27. doi: 10.1016/s0749-0690(02)00006-x. PMID: 12180244
Friedman DM, Rupel A, Glickstein J, Buyon JP
Indian J Pediatr 2002 Jun;69(6):517-22. doi: 10.1007/BF02722656. PMID: 12139139

Prognosis

Fong LS, Betts K, Ayer J, Andrews D, Nicholson IA, Winlaw DS, Orr Y; Australian CAVSD study group
Eur J Cardiothorac Surg 2021 Dec 27;61(1):45-53. doi: 10.1093/ejcts/ezab221. PMID: 34002204
Carvalho JS
Best Pract Res Clin Obstet Gynaecol 2019 Jul;58:28-41. Epub 2019 Jan 9 doi: 10.1016/j.bpobgyn.2019.01.002. PMID: 30738635
Mahadevaiah G, Gupta M, Ashwath R
Tex Heart Inst J 2015 Oct;42(5):458-61. Epub 2015 Oct 1 doi: 10.14503/THIJ-14-4256. PMID: 26504441Free PMC Article
Durak I, Kudaiberdieva G, Gorenek B
Expert Rev Cardiovasc Ther 2015 Jan;13(1):85-94. Epub 2014 Dec 5 doi: 10.1586/14779072.2015.987127. PMID: 25479322
Formigari R, Di Donato RM, Gargiulo G, Di Carlo D, Feltri C, Picchio FM, Marino B
Ann Thorac Surg 2004 Aug;78(2):666-72; discussion 672. doi: 10.1016/j.athoracsur.2003.12.021. PMID: 15276542

Clinical prediction guides

Fong LS, Betts K, Ayer J, Andrews D, Nicholson IA, Winlaw DS, Orr Y; Australian CAVSD study group
Eur J Cardiothorac Surg 2021 Dec 27;61(1):45-53. doi: 10.1093/ejcts/ezab221. PMID: 34002204
Sethi N, Krishnan A, Donofrio M
Prenat Diagn 2020 Apr;40(5):557-564. Epub 2020 Feb 16 doi: 10.1002/pd.5637. PMID: 31913524
Tumanyan MR, Filaretova OV, Chechneva VV, Gulasaryan RS, Butrim IV, Bockeria LA
Pediatr Cardiol 2015 Jan;36(1):71-5. Epub 2014 Aug 7 doi: 10.1007/s00246-014-0966-7. PMID: 25099029
Escobar-Diaz MC, Tworetzky W, Friedman K, Lafranchi T, Fynn-Thompson F, Alexander ME, Mah DY
Pediatr Cardiol 2014 Aug;35(6):906-13. Epub 2014 Feb 9 doi: 10.1007/s00246-014-0874-x. PMID: 24509635Free PMC Article
Brignole M
Clin Geriatr Med 2002 May;18(2):211-27. doi: 10.1016/s0749-0690(02)00006-x. PMID: 12180244

Recent systematic reviews

Kulkarni A, Patel N, Singh TP, Mossialos E, Mehra MR
J Heart Lung Transplant 2019 Jul;38(7):739-747. Epub 2019 Apr 4 doi: 10.1016/j.healun.2019.04.001. PMID: 31006521
Jentink J, Dolk H, Loane MA, Morris JK, Wellesley D, Garne E, de Jong-van den Berg L; EUROCAT Antiepileptic Study Working Group
BMJ 2010 Dec 2;341:c6581. doi: 10.1136/bmj.c6581. PMID: 21127116Free PMC Article

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