U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

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
Fong LS, Youssef D, Ayer J, Nicholson IA, Winlaw DS, Orr Y
Interact Cardiovasc Thorac Surg 2022 Feb 21;34(3):431-437. doi: 10.1093/icvts/ivab263. PMID: 34633029Free PMC Article
Wang L, Xie L, Ruan W, Li T, Gan C, Lin K
BMC Surg 2020 Sep 18;20(1):208. doi: 10.1186/s12893-020-00854-0. PMID: 32948172Free 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

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
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
Evans WN, Acherman RJ, Ciccolo ML, Lehoux J, Restrepo H
J Matern Fetal Neonatal Med 2022 Dec;35(25):8001-8005. Epub 2021 Jun 17 doi: 10.1080/14767058.2021.1940933. PMID: 34139939
Ren C, Wu C, Pan Z, Li Y
J Cardiothorac Surg 2021 Mar 19;16(1):30. doi: 10.1186/s13019-021-01415-z. PMID: 33741014Free 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

Nag P, Chowdhury SR, Behera SK, Das M, Narayan P
J Cardiothorac Vasc Anesth 2023 Jun;37(6):972-979. Epub 2023 Feb 6 doi: 10.1053/j.jvca.2023.01.032. PMID: 36906394
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
Yoneyama F, Kato H, Matsubara M, Mathis BJ, Yoshimura Y, Abe M, Suetsugu F, Maruo K, Suzuki Y, Hiramatsu Y
Eur J Cardiothorac Surg 2022 Jun 15;62(1) doi: 10.1093/ejcts/ezab407. PMID: 34549780
Taha FA, Alnozha F, Amoudi O, Almutairi M, Abuelatta R
Pediatr Cardiol 2022 Feb;43(2):308-323. Epub 2021 Sep 8 doi: 10.1007/s00246-021-02722-x. PMID: 34495353
Raisky O, Vouhé PR
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2013;16(1):7-12. doi: 10.1053/j.pcsu.2013.02.001. PMID: 23561812

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
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
An K, Li S, Yan J, Wang X, Hua Z
Pediatr Cardiol 2021 Apr;42(4):762-767. Epub 2021 Jan 28 doi: 10.1007/s00246-021-02538-9. PMID: 33507334
Wang L, Xie L, Ruan W, Li T, Gan C, Lin K
BMC Surg 2020 Sep 18;20(1):208. doi: 10.1186/s12893-020-00854-0. PMID: 32948172Free 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
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
Fong LS, Youssef D, Ayer J, Nicholson IA, Winlaw DS, Orr Y
Interact Cardiovasc Thorac Surg 2022 Feb 21;34(3):431-437. doi: 10.1093/icvts/ivab263. PMID: 34633029Free PMC Article
Giridhara P, Poonia A, Sasikumar D, Krishnamoorthy KM, Sivasubramonian S, Valaparambil A
Ann Thorac Surg 2022 Sep;114(3):873-880. Epub 2021 Jun 27 doi: 10.1016/j.athoracsur.2021.05.080. PMID: 34186092

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
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...