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Atrioventricular septal defect 4(AVSD4)

MedGen UID:
482411
Concept ID:
C3280781
Congenital Abnormality; Disease or Syndrome
Synonym: AVSD4
 
Gene (location): GATA4 (8p23.1)
 
Monarch Initiative: MONDO:0013747
OMIM®: 614430

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). For a discussion of genetic heterogeneity of atrioventricular septal defects, see AVSD1 (606215). [from OMIM]

Clinical features

From HPO
Primum atrial septal defect
MedGen UID:
83374
Concept ID:
C0344735
Congenital Abnormality
An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum.

Professional guidelines

PubMed

Aldridge N, Pandya P, Rankin J, Miller N, Broughan J, Permalloo N, McHugh A, Stevens S
BJOG 2023 Jan;130(1):51-58. Epub 2022 Sep 12 doi: 10.1111/1471-0528.17287. PMID: 36054171
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

Recent clinical studies

Etiology

Ivanov Y, Buratto E, Ishigami S, Chowdhuri KR, Schulz A, Brizard CP, Konstantinov IE
Ann Thorac Surg 2023 Aug;116(2):366-372. Epub 2022 Oct 23 doi: 10.1016/j.athoracsur.2022.10.015. PMID: 36288759
King G, Buratto E, Cordina R, Iyengar A, Grigg L, Kelly A, Bullock A, Ayer J, Alphonso N, d'Udekem Y, Konstantinov IE
J Thorac Cardiovasc Surg 2023 Feb;165(2):424-433. Epub 2022 Apr 20 doi: 10.1016/j.jtcvs.2022.04.011. PMID: 36008181
Syngelaki A, Hammami A, Bower S, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2019 Oct;54(4):468-476. doi: 10.1002/uog.20844. PMID: 31408229
Minich LL, Atz AM, Colan SD, Sleeper LA, Mital S, Jaggers J, Margossian R, Prakash A, Li JS, Cohen MS, Lacro RV, Klein GL, Hawkins JA; Pediatric Heart Network Investigators
Ann Thorac Surg 2010 Feb;89(2):530-6. doi: 10.1016/j.athoracsur.2009.10.047. PMID: 20103337Free PMC Article
Prifti E, Bonacchi M, Bernabei M, Leacche M, Bartolozzi F, Murzi B, Battaglia F, Nadia NS, Vanini V
J Card Surg 2004 Mar-Apr;19(2):175-83. doi: 10.1111/j.0886-0440.2004.04031.x. PMID: 15016061

Diagnosis

Yi T, Hao X, Sun H, Zhang Y, Han J, Gu X, Sun L, Liu X, Zhao Y, Guo Y, Zhou X, He Y
ESC Heart Fail 2023 Apr;10(2):917-930. Epub 2022 Dec 7 doi: 10.1002/ehf2.14209. PMID: 36478645Free PMC Article
Noben L, Lempersz C, van den Heuvel ER, Zhan Z, Vandenbussche FPHA, Coumans ABC, Haak MC, Vullings R, Oei SG, Clur SAB, van Laar JOEH
PLoS One 2022;17(10):e0275802. Epub 2022 Oct 20 doi: 10.1371/journal.pone.0275802. PMID: 36264863Free PMC Article
Syngelaki A, Hammami A, Bower S, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2019 Oct;54(4):468-476. doi: 10.1002/uog.20844. PMID: 31408229
Ozturk E, Cansaran Tanidir I, Ayyildiz P, Gokalp S, Candas Kafali H, Sahin M, Ergul Y, Haydin S, Guzeltas A
Echocardiography 2018 Jul;35(7):999-1004. Epub 2018 Mar 25 doi: 10.1111/echo.13874. PMID: 29577408
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

Therapy

Gellis L, McGeoghegan P, Lu M, Feins E, Sleeper L, Emani S, Friedman K, Baird C
J Thorac Cardiovasc Surg 2023 Oct;166(4):1168-1177. Epub 2023 May 7 doi: 10.1016/j.jtcvs.2023.04.004. PMID: 37160215
King G, Buratto E, Cordina R, Iyengar A, Grigg L, Kelly A, Bullock A, Ayer J, Alphonso N, d'Udekem Y, Konstantinov IE
J Thorac Cardiovasc Surg 2023 Feb;165(2):424-433. Epub 2022 Apr 20 doi: 10.1016/j.jtcvs.2022.04.011. PMID: 36008181
Noben L, Lempersz C, van den Heuvel ER, Zhan Z, Vandenbussche FPHA, Coumans ABC, Haak MC, Vullings R, Oei SG, Clur SAB, van Laar JOEH
PLoS One 2022;17(10):e0275802. Epub 2022 Oct 20 doi: 10.1371/journal.pone.0275802. PMID: 36264863Free PMC Article
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
Malhotra SP, Lacour-Gayet F, Mitchell MB, Clarke DR, Dines ML, Campbell DN
Ann Thorac Surg 2008 Jul;86(1):147-51; discussion 151-2. doi: 10.1016/j.athoracsur.2008.03.040. PMID: 18573414

Prognosis

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
Ozturk E, Cansaran Tanidir I, Ayyildiz P, Gokalp S, Candas Kafali H, Sahin M, Ergul Y, Haydin S, Guzeltas A
Echocardiography 2018 Jul;35(7):999-1004. Epub 2018 Mar 25 doi: 10.1111/echo.13874. PMID: 29577408
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
Minich LL, Atz AM, Colan SD, Sleeper LA, Mital S, Jaggers J, Margossian R, Prakash A, Li JS, Cohen MS, Lacro RV, Klein GL, Hawkins JA; Pediatric Heart Network Investigators
Ann Thorac Surg 2010 Feb;89(2):530-6. doi: 10.1016/j.athoracsur.2009.10.047. PMID: 20103337Free PMC Article
Prifti E, Bonacchi M, Bernabei M, Leacche M, Bartolozzi F, Murzi B, Battaglia F, Nadia NS, Vanini V
J Card Surg 2004 Mar-Apr;19(2):175-83. doi: 10.1111/j.0886-0440.2004.04031.x. PMID: 15016061

Clinical prediction guides

Yi T, Hao X, Sun H, Zhang Y, Han J, Gu X, Sun L, Liu X, Zhao Y, Guo Y, Zhou X, He Y
ESC Heart Fail 2023 Apr;10(2):917-930. Epub 2022 Dec 7 doi: 10.1002/ehf2.14209. PMID: 36478645Free PMC Article
Holten-Andersen M, Lippert M, Holmstrøm H, Brun H, Døhlen G
Eur J Cardiothorac Surg 2022 Dec 2;63(1) doi: 10.1093/ejcts/ezac560. PMID: 36472441Free PMC Article
Ozturk E, Cansaran Tanidir I, Ayyildiz P, Gokalp S, Candas Kafali H, Sahin M, Ergul Y, Haydin S, Guzeltas A
Echocardiography 2018 Jul;35(7):999-1004. Epub 2018 Mar 25 doi: 10.1111/echo.13874. PMID: 29577408
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
Minich LL, Atz AM, Colan SD, Sleeper LA, Mital S, Jaggers J, Margossian R, Prakash A, Li JS, Cohen MS, Lacro RV, Klein GL, Hawkins JA; Pediatric Heart Network Investigators
Ann Thorac Surg 2010 Feb;89(2):530-6. doi: 10.1016/j.athoracsur.2009.10.047. PMID: 20103337Free PMC Article

Recent systematic reviews

Ghosh S, Halder V, Mittal A, Mishra A, Haranal M, Aggarwal P, Singh H, Barwad P, Naganur S, Thingnam SKS
Cardiol Young 2023 Sep;33(9):1506-1516. Epub 2023 Jul 31 doi: 10.1017/S1047951123002664. PMID: 37518865
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
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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