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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

Tavares S, Hankins JR, Moulton AL, Attar S, Ali S, Lincoln S, Green DC, Sequeira A, McLaughlin JS
Ann Thorac Surg 1984 Sep;38(3):183-7. doi: 10.1016/s0003-4975(10)62233-3. PMID: 6476939

Recent clinical studies

Etiology

Arriola-Montenegro J, Tandon R, Shaffer A, Nijjar PS
Eur J Cardiothorac Surg 2024 Feb 1;65(2) doi: 10.1093/ejcts/ezae029. PMID: 38290788
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
Kobayashi M, Muneuchi J, Sugitani Y, Yamada A, Ezaki H, Watanabe M
Heart Vessels 2023 Feb;38(2):255-264. Epub 2022 Jul 26 doi: 10.1007/s00380-022-02144-6. PMID: 35882655
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
Miyake T
World J Pediatr 2020 Apr;16(2):120-128. Epub 2019 Jul 25 doi: 10.1007/s12519-019-00289-5. PMID: 31347020

Diagnosis

Arriola-Montenegro J, Tandon R, Shaffer A, Nijjar PS
Eur J Cardiothorac Surg 2024 Feb 1;65(2) doi: 10.1093/ejcts/ezae029. PMID: 38290788
Yu M, Harper AR, Aguirre M, Pittman M, Tcheandjieu C, Amgalan D, Grace C, Goel A, Farrall M, Xiao K, Engreitz J, Pollard KS, Watkins H, Priest JR
Circ Genom Precis Med 2023 Jun;16(3):207-215. Epub 2023 Apr 5 doi: 10.1161/CIRCGEN.122.003708. PMID: 37017090Free PMC Article
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
Eckerström F, Nyboe C, Maagaard M, Redington A, Hjortdal VE
Eur Heart J 2023 Jan 1;44(1):54-61. doi: 10.1093/eurheartj/ehac618. PMID: 36418929Free PMC Article
Miyake T
World J Pediatr 2020 Apr;16(2):120-128. Epub 2019 Jul 25 doi: 10.1007/s12519-019-00289-5. PMID: 31347020

Therapy

Delmas C, Barbosa H, David CH, Bouisset F, Piriou PG, Roubille F, Leick J, Pavlov M, Leurent G, Potapov EV, Linke A, Mierke J, Lanmüller P, Mangner N
ASAIO J 2023 Dec 1;69(12):e491-e499. Epub 2023 Nov 7 doi: 10.1097/MAT.0000000000002060. PMID: 37935014
Guerrero-Chalela CE, Therrien J, Grossman Y, Guo L, Liu A, Marelli A
J Am Heart Assoc 2023 Oct 3;12(19):e024034. Epub 2023 Sep 30 doi: 10.1161/JAHA.121.024034. PMID: 37776221Free 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
Yu M, Harper AR, Aguirre M, Pittman M, Tcheandjieu C, Amgalan D, Grace C, Goel A, Farrall M, Xiao K, Engreitz J, Pollard KS, Watkins H, Priest JR
Circ Genom Precis Med 2023 Jun;16(3):207-215. Epub 2023 Apr 5 doi: 10.1161/CIRCGEN.122.003708. PMID: 37017090Free PMC Article
Lim JH, Cho S, Lee CH, Kim ER, Kim YJ
Pediatr Cardiol 2022 Aug;43(6):1277-1285. Epub 2022 Feb 18 doi: 10.1007/s00246-022-02849-5. PMID: 35178588

Prognosis

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
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
Çelik M, Aygün F, Günaydın AÇ, Gökdemir M, Cindık N
Braz J Cardiovasc Surg 2023 May 4;38(3):375-380. doi: 10.21470/1678-9741-2022-0059. PMID: 36592069Free PMC Article
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
Jaswaney R, Arora S, Khwaja T, Shah N, Osman MN, Abu-Omar Y, Shishehbor MH
Am J Cardiol 2022 Jul 15;175:44-51. Epub 2022 May 18 doi: 10.1016/j.amjcard.2022.04.017. PMID: 35597625

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
Yu M, Harper AR, Aguirre M, Pittman M, Tcheandjieu C, Amgalan D, Grace C, Goel A, Farrall M, Xiao K, Engreitz J, Pollard KS, Watkins H, Priest JR
Circ Genom Precis Med 2023 Jun;16(3):207-215. Epub 2023 Apr 5 doi: 10.1161/CIRCGEN.122.003708. PMID: 37017090Free PMC Article
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
Belyaev AM, Popov AS, Alshibaya MD
J Card Surg 2022 Mar;37(3):515-523. doi: 10.1111/jocs.16156. PMID: 35103349

Recent systematic reviews

Ma Z, Cao X, Chang Y, Li W, Chen X, Tang NJ
Environ Res 2021 Jun;197:111014. Epub 2021 Mar 11 doi: 10.1016/j.envres.2021.111014. PMID: 33716027
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
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
Shi QY, Zhang JB, Mi YQ, Song Y, Ma J, Zhang YL
J Perinatol 2014 Sep;34(9):677-82. Epub 2014 May 8 doi: 10.1038/jp.2014.76. PMID: 24811224
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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