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Atrioventricular septal defect(AVSD)

MedGen UID:
501123
Concept ID:
C1389018
Congenital Abnormality
Synonym: AVSD
 
Monarch Initiative: MONDO:0859565
OMIM®: 606215

Definition

The term 'atrioventricular septal defect' (AVSD) covers a spectrum of congenital heart malformations characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. In ostium primum atrial septal defect (ASD) there are separate atrioventricular valvar orifices despite a common junction, whereas in complete AVSD the valve itself is also shared (summary by Craig, 2006). AVSD, also designated endocardial cushion defect or atrioventricular canal defect (AVCD), is known to occur in either a nonsyndromic (isolated) form or, more commonly, as part of a malformation syndrome. The 2 syndromes most frequently associated with AVSD are Down syndrome (190685), in which AVSD is the most frequent congenital heart defect, and Ivemark syndrome (208530) (summary by Carmi et al., 1992). Genetic Heterogeneity of Isolated Atrioventricular Septal Defect An AVSD susceptibility locus (AVSD1) maps to chromosome 1p31-p21; AVSD2 (606217) is caused by mutation in the CRELD1 gene (607170) on chromosome 3p25; AVSD4 (614430) is caused by mutation in the GATA4 gene (600576) on chromosome 8p23.1; and AVSD5 (614474) is caused by mutation in the GATA6 gene (601656) on chromosome 18q11. A form of AVSD, designated AVSD3, was thought to be caused by mutation in the GJA1 gene (121014.0011), but this variant has been reclassified as a variant of unknown significance. Somatic mutations in the HAND1 gene (602406) have been identified in tissue samples from patients with AVSDs. [from OMIM]

Professional guidelines

PubMed

Babaoğlu K, Doğan Y, Erdem S, Özbarlas N, Başar E, Uzun O
Anatol J Cardiol 2022 Sep;26(9):702-709. doi: 10.5152/AnatolJCardiol.2022.1461. PMID: 35943311Free PMC Article
Mureşan D, Mărginean C, Zaharie G, Stamatian F, Rotar IC
Med Ultrason 2016 Dec 5;18(4):500-507. doi: 10.11152/mu-879. PMID: 27981284
Shuhaiber JH, Ho SY, Rigby M, Sethia B
Eur J Cardiothorac Surg 2009 May;35(5):891-900. Epub 2009 Feb 24 doi: 10.1016/j.ejcts.2009.01.009. PMID: 19243971

Recent clinical studies

Etiology

Nakayama Y, Shinkawa T, Hoki R, Kobayashi K, Yoshida H, Sato Y, Niinami H
World J Pediatr Congenit Heart Surg 2022 Jul;13(4):451-457. doi: 10.1177/21501351221100140. PMID: 35757952
Arrigoni SC, IJsselhof R, Postmus D, Vonk JM, François K, Bové T, Hazekamp MG, Rijnberg FM, Meyns B, van Puyvelde J, Poncelet AJ, de Beco G, van de Woestijne PC, Bogers AJJC, Schoof PH, Ebels T
J Thorac Cardiovasc Surg 2022 Mar;163(3):1166-1175. Epub 2021 May 18 doi: 10.1016/j.jtcvs.2021.05.015. PMID: 34099273
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
Malik M, Khalid Nuri M
Semin Cardiothorac Vasc Anesth 2017 Sep;21(3):229-234. Epub 2017 May 8 doi: 10.1177/1089253217708622. PMID: 28482733
Calkoen EE, Hazekamp MG, Blom NA, Elders BB, Gittenberger-de Groot AC, Haak MC, Bartelings MM, Roest AA, Jongbloed MR
Int J Cardiol 2016 Jan 1;202:784-95. Epub 2015 Sep 26 doi: 10.1016/j.ijcard.2015.09.081. PMID: 26476030

Diagnosis

Taqatqa AS, Vettukattil JJ
Curr Cardiol Rep 2021 Jul 1;23(8):93. doi: 10.1007/s11886-021-01523-1. PMID: 34196822
Pugnaloni F, Digilio MC, Putotto C, De Luca E, Marino B, Versacci P
Ital J Pediatr 2020 May 13;46(1):61. doi: 10.1186/s13052-020-00825-4. PMID: 32404184Free PMC Article
Mureşan D, Mărginean C, Zaharie G, Stamatian F, Rotar IC
Med Ultrason 2016 Dec 5;18(4):500-507. doi: 10.11152/mu-879. PMID: 27981284
Calkoen EE, Hazekamp MG, Blom NA, Elders BB, Gittenberger-de Groot AC, Haak MC, Bartelings MM, Roest AA, Jongbloed MR
Int J Cardiol 2016 Jan 1;202:784-95. Epub 2015 Sep 26 doi: 10.1016/j.ijcard.2015.09.081. PMID: 26476030
Calabrò R, Limongelli G
Orphanet J Rare Dis 2006 Apr 5;1:8. doi: 10.1186/1750-1172-1-8. PMID: 16722604Free PMC Article

Therapy

Kwon MH, Schultz AH, Lee M, Permut LC, McMullan DM, Nuri MK
J Thorac Cardiovasc Surg 2022 Mar;163(3):1156-1162. Epub 2021 Jun 26 doi: 10.1016/j.jtcvs.2021.06.041. PMID: 34266667
Arrigoni SC, IJsselhof R, Postmus D, Vonk JM, François K, Bové T, Hazekamp MG, Rijnberg FM, Meyns B, van Puyvelde J, Poncelet AJ, de Beco G, van de Woestijne PC, Bogers AJJC, Schoof PH, Ebels T
J Thorac Cardiovasc Surg 2022 Mar;163(3):1166-1175. Epub 2021 May 18 doi: 10.1016/j.jtcvs.2021.05.015. PMID: 34099273
Fong LS, Betts K, Bell D, Konstantinov IE, Nicholson IA, Winlaw DS, Orr Y; Australian CAVSD Study Group
J Thorac Cardiovasc Surg 2020 Mar;159(3):1014-1025.e8. Epub 2019 Aug 30 doi: 10.1016/j.jtcvs.2019.08.005. PMID: 31590953
Krupickova S, Morgan GJ, Cheang MH, Rigby ML, Franklin RC, Battista A, Spanaki A, Bonello B, Ghez O, Anderson D, Tsang V, Michielon G, Marek J, Fraisse A
Heart 2018 Sep;104(17):1411-1416. Epub 2017 Dec 28 doi: 10.1136/heartjnl-2017-312195. PMID: 29288192
Ross FJ, Nasr VG, Joffe D, Latham GJ
Semin Cardiothorac Vasc Anesth 2017 Sep;21(3):221-228. Epub 2017 Jun 7 doi: 10.1177/1089253217706166. PMID: 28592182

Prognosis

Arrigoni SC, IJsselhof R, Postmus D, Vonk JM, François K, Bové T, Hazekamp MG, Rijnberg FM, Meyns B, van Puyvelde J, Poncelet AJ, de Beco G, van de Woestijne PC, Bogers AJJC, Schoof PH, Ebels T
J Thorac Cardiovasc Surg 2022 Mar;163(3):1166-1175. Epub 2021 May 18 doi: 10.1016/j.jtcvs.2021.05.015. PMID: 34099273
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
Minnella GP, Crupano FM, Syngelaki A, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2020 May;55(5):637-644. doi: 10.1002/uog.21956. PMID: 31875326
Pontailler M, Haidar M, Méot M, Moreau de Bellaing A, Gaudin R, Houyel L, Metton O, Moceri P, Bonnet D, Vouhé P, Raisky O
Eur J Cardiothorac Surg 2019 Sep 1;56(3):541-548. doi: 10.1093/ejcts/ezz085. PMID: 30897200
Calkoen EE, Hazekamp MG, Blom NA, Elders BB, Gittenberger-de Groot AC, Haak MC, Bartelings MM, Roest AA, Jongbloed MR
Int J Cardiol 2016 Jan 1;202:784-95. Epub 2015 Sep 26 doi: 10.1016/j.ijcard.2015.09.081. PMID: 26476030

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
Minnella GP, Crupano FM, Syngelaki A, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2020 May;55(5):637-644. doi: 10.1002/uog.21956. PMID: 31875326
Mai CT, Isenburg JL, Canfield MA, Meyer RE, Correa A, Alverson CJ, Lupo PJ, Riehle-Colarusso T, Cho SJ, Aggarwal D, Kirby RS; National Birth Defects Prevention Network
Birth Defects Res 2019 Nov 1;111(18):1420-1435. Epub 2019 Oct 3 doi: 10.1002/bdr2.1589. PMID: 31580536Free PMC Article
Pontailler M, Haidar M, Méot M, Moreau de Bellaing A, Gaudin R, Houyel L, Metton O, Moceri P, Bonnet D, Vouhé P, Raisky O
Eur J Cardiothorac Surg 2019 Sep 1;56(3):541-548. doi: 10.1093/ejcts/ezz085. PMID: 30897200
Digilio MC, Pugnaloni F, De Luca A, Calcagni G, Baban A, Dentici ML, Versacci P, Dallapiccola B, Tartaglia M, Marino B
Clin Genet 2019 Feb;95(2):268-276. Epub 2018 May 23 doi: 10.1111/cge.13375. PMID: 29722020

Recent systematic reviews

Chaithra S, Agarwala S, Ramachandra NB
Gene 2022 Oct 5;840:146745. Epub 2022 Jul 18 doi: 10.1016/j.gene.2022.146745. PMID: 35863714
Wu Y, Kuang H, Wang G, Dai J, Li Y, Wei G, Wu C
Pediatr Cardiol 2020 Oct;41(7):1445-1457. Epub 2020 Jun 24 doi: 10.1007/s00246-020-02397-w. PMID: 32583199
Loomba RS, Flores S, Villarreal EG, Bronicki RA, Anderson RH
World J Pediatr Congenit Heart Surg 2019 Sep;10(5):616-623. doi: 10.1177/2150135119859882. PMID: 31496417
Lenko E, Kulyabin Y, Zubritskiy A, Gorbatykh Y, Naberukhin Y, Nichay N, Bogachev-Prokophiev A, Karaskov A
Interact Cardiovasc Thorac Surg 2018 Jan 1;26(1):98-105. doi: 10.1093/icvts/ivx267. PMID: 29049707
Buca DIP, Khalil A, Rizzo G, Familiari A, Di Giovanni S, Liberati M, Murgano D, Ricciardulli A, Fanfani F, Scambia G, D'Antonio F
Ultrasound Obstet Gynecol 2018 Mar;51(3):323-330. doi: 10.1002/uog.17546. PMID: 28603940

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