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Ventricular septal defect 2(VSD2)

MedGen UID:
482413
Concept ID:
C3280783
Congenital Abnormality
Synonym: VSD2
 
Gene (location): CITED2 (6q24.1)
 
Monarch Initiative: MONDO:0013748
OMIM®: 614431

Definition

Ventricular septal defect (VSD) is the most common form of congenital cardiovascular anomaly, occurring in nearly 50% of all infants with a congenital heart defect and accounting for 14% to 16% of cardiac defects that require invasive treatment within the first year of life. Congenital VSDs may occur alone or in combination with other cardiac malformations. Large VSDs that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death (summary by Wang et al., 2011, 2011). For a discussion of genetic heterogeneity of ventricular septal defect, see VSD1 (614429). [from OMIM]

Clinical features

From HPO
Perimembranous ventricular septal defect
MedGen UID:
87490
Concept ID:
C0344925
Congenital Abnormality
A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs.

Professional guidelines

PubMed

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Recent clinical studies

Etiology

Miyake T
World J Pediatr 2020 Apr;16(2):120-128. Epub 2019 Jul 25 doi: 10.1007/s12519-019-00289-5. PMID: 31347020
Lee G, Fong SX, Salpekar M, Satterwhite CL, Weiner C
J Matern Fetal Neonatal Med 2016;29(10):1687-90. Epub 2015 Jul 28 doi: 10.3109/14767058.2015.1059810. PMID: 26135785
Belli E, Serraf A, Lacour-Gayet F, Hubler M, Zoghby J, Houyel L, Planche C
Eur J Cardiothorac Surg 1999 Jun;15(6):747-52. doi: 10.1016/s1010-7940(99)00100-1. PMID: 10431853
Krovetz LJ
Am J Cardiol 1998 Jan 1;81(1):100-1. doi: 10.1016/s0002-9149(97)00810-2. PMID: 9462618
Fox KM, Patel RG, Graham GR, Taylor JF, Stark J, De Leval MR, Macartney FJ
Br Heart J 1978 Feb;40(2):141-6. doi: 10.1136/hrt.40.2.141. PMID: 637965Free PMC Article

Diagnosis

Lee G, Fong SX, Salpekar M, Satterwhite CL, Weiner C
J Matern Fetal Neonatal Med 2016;29(10):1687-90. Epub 2015 Jul 28 doi: 10.3109/14767058.2015.1059810. PMID: 26135785
Tavakkoli Hosseini M, Quarto C, Bahrami T
Tex Heart Inst J 2013;40(2):209-10. PMID: 23678227Free PMC Article
Brachlow A, Awadallah S, Chatterjee A
Pediatr Cardiol 2003 Mar-Apr;24(2):161-3. Epub 2002 Oct 29 doi: 10.1007/s00246-002-0253-x. PMID: 12399903
Krovetz LJ
Am J Cardiol 1998 Jan 1;81(1):100-1. doi: 10.1016/s0002-9149(97)00810-2. PMID: 9462618
Chesler E, Moller JH, Lillehei CW, Edwards JE
Am Heart J 1968 Aug;76(2):259-65. doi: 10.1016/0002-8703(68)90203-2. PMID: 5665423

Therapy

Berk TA, de Kroon TL, Swaans MJ, van Putte BP
Eur J Cardiothorac Surg 2023 Apr 3;63(4) doi: 10.1093/ejcts/ezac568. PMID: 36571500
Tavakkoli Hosseini M, Quarto C, Bahrami T
Tex Heart Inst J 2013;40(2):209-10. PMID: 23678227Free PMC Article
Bartels K, Daneshmand MA, Mathew JP, Glower DD, Swaminathan M, Nicoara A
J Cardiothorac Vasc Anesth 2013 Apr;27(2):381-4. doi: 10.1053/j.jvca.2012.10.009. PMID: 23507017
Brachlow A, Awadallah S, Chatterjee A
Pediatr Cardiol 2003 Mar-Apr;24(2):161-3. Epub 2002 Oct 29 doi: 10.1007/s00246-002-0253-x. PMID: 12399903
Gentles TL, Rosenfeld HM, Sanders SP, Laussen PC, Burke RP, van der Velde ME
Am Heart J 1994 Dec;128(6 Pt 1):1225-33. doi: 10.1016/0002-8703(94)90755-2. PMID: 7985605

Prognosis

Tavakkoli Hosseini M, Quarto C, Bahrami T
Tex Heart Inst J 2013;40(2):209-10. PMID: 23678227Free PMC Article
Brachlow A, Awadallah S, Chatterjee A
Pediatr Cardiol 2003 Mar-Apr;24(2):161-3. Epub 2002 Oct 29 doi: 10.1007/s00246-002-0253-x. PMID: 12399903
Krovetz LJ
Am J Cardiol 1998 Jan 1;81(1):100-1. doi: 10.1016/s0002-9149(97)00810-2. PMID: 9462618
Fox KM, Patel RG, Graham GR, Taylor JF, Stark J, De Leval MR, Macartney FJ
Br Heart J 1978 Feb;40(2):141-6. doi: 10.1136/hrt.40.2.141. PMID: 637965Free PMC Article
Campbell M
Br Heart J 1971 Mar;33(2):246-57. doi: 10.1136/hrt.33.2.246. PMID: 5572660Free PMC Article

Clinical prediction guides

Al-Bulushi A, Salmi IA, Ahmed AR, Rahbi FA
Sultan Qaboos Univ Med J 2023 Dec;23(Spec Iss):22-30. Epub 2023 Nov 30 doi: 10.18295/squmj.12.2023.076. PMID: 38161766Free PMC Article
Wang S, Li Z, Wang Y, Zhao T, Mo X, Fan T, Li J, You T, Deng R, Ouyang W, Wang W, Zhang C, Butera G, Hijazi ZM, Pang K, Zhu D, Jiang S, Zhang G, Hu X, Xie Y, Zhang F, Fang F, Sun J, Li P, Chen J, Luo Z, Pan X
Sci Bull (Beijing) 2023 May 30;68(10):1051-1059. Epub 2023 Apr 26 doi: 10.1016/j.scib.2023.04.027. PMID: 37179234
Ashry A, Khan S, Johns M, Moran D, Mohammed HM, Lotto R, Kutty R, Dhannapuneni R, Guerrero R, Lotto A
World J Pediatr Congenit Heart Surg 2023 May;14(3):350-356. Epub 2023 Mar 2 doi: 10.1177/21501351221151042. PMID: 36862697
Yuan D, Chen L, Zhang X, Qian Y
J Card Surg 2022 Dec;37(12):5395-5403. Epub 2022 Nov 15 doi: 10.1111/jocs.17214. PMID: 36378918
Tikanoja T, Jääskeläinen P, Laakso M, Kuusisto J
Am J Cardiol 1999 Aug 15;84(4):485-6. doi: 10.1016/s0002-9149(99)00343-4. PMID: 10468097

Recent systematic reviews

Baroutidou A, Arvanitaki A, Farmakis IT, Patsiou V, Giannopoulos A, Efthimiadis G, Ziakas A, Giannakoulas G
Heart 2023 Nov 10;109(23):1741-1750. doi: 10.1136/heartjnl-2023-322529. PMID: 37380331Free PMC Article
Matteucci M, Ronco D, Corazzari C, Fina D, Jiritano F, Meani P, Kowalewski M, Beghi C, Lorusso R
Ann Thorac Surg 2021 Jul;112(1):326-337. Epub 2020 Nov 4 doi: 10.1016/j.athoracsur.2020.08.050. PMID: 33157063
Hong ZN, Chen Q, Huang LQ, Cao H
J Cardiothorac Surg 2019 Jun 27;14(1):119. doi: 10.1186/s13019-019-0936-5. PMID: 31248430Free PMC Article
Liu Y, Chen S, Zühlke L, Black GC, Choy MK, Li N, Keavney BD
Int J Epidemiol 2019 Apr 1;48(2):455-463. doi: 10.1093/ije/dyz009. PMID: 30783674Free PMC Article
Luteijn JM, Brown MJ, Dolk H
Hum Reprod 2014 Apr;29(4):809-23. Epub 2013 Dec 22 doi: 10.1093/humrep/det455. PMID: 24365800

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