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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

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
Guirgis L, Valdeolmillos E, Vaksmann G, Karsenty C, Houeijeh A, Hery E, Amedro P, Pangaud N, Benbrik N, Vastel C, Legendre A, Jalal Z, Hadeed K, Ladouceur M, Iserin L, Laux D, Iriart X, Warin Fresse K, Leobon B, Harchaoui S, Lambert V, Bonefoy R, Basquin A, Chalard A, Douchin S, Bouzguenda I, Denis C, Lucron H, Bosser G, Barre E, Urbina-Hiel B, Helms P, Ansquer H, Hauet Q, Leborgne AS, Cohen L, Lupoglazoff JM, Guirgis M, Gronier C, Maragnes P, Moceri P, Mauran P, Bertail C, Lefort B, Godart F, Baruteau AE, Ovaert C, Bonnet D, Combes N, Khraiche D, Houyel L, Thambo JB, Mostefa-Kara M, Hascoet S; FRANCISCO investigators
Cardiol Young 2021 Oct;31(10):1557-1562. Epub 2021 Sep 23 doi: 10.1017/S1047951121002717. PMID: 34551835
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

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
Gordin Kopylov L, Dekel N, Maymon R, Feldman N, Zimmerman A, Hadas D, Melcer Y, Svirsky R
Prenat Diagn 2022 Apr;42(4):461-468. Epub 2022 Mar 7 doi: 10.1002/pd.6128. PMID: 35230708Free PMC Article
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
Zhang H, Yue F, Zhang X, He J, Jiang Y, Liu R, Yu Y
Medicine (Baltimore) 2021 Jan 8;100(1):e24227. doi: 10.1097/MD.0000000000024227. PMID: 33429818Free 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

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
Afrasiabirad A, Samadi M, Vatani P, Faridvand Y
Asian Cardiovasc Thorac Ann 2021 Mar;29(3):161-164. Epub 2020 Sep 26 doi: 10.1177/0218492320962923. PMID: 32985226
Hadeed K, Hascoet S, Amadieu R, Karsenty C, Cuttone F, Leobon B, Dulac Y, Acar P
J Am Soc Echocardiogr 2016 Aug;29(8):777-785. Epub 2016 Jun 8 doi: 10.1016/j.echo.2016.04.012. PMID: 27289424

Prognosis

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
Zhang H, Yue F, Zhang X, He J, Jiang Y, Liu R, Yu Y
Medicine (Baltimore) 2021 Jan 8;100(1):e24227. doi: 10.1097/MD.0000000000024227. PMID: 33429818Free PMC Article
Shuplock JM, Kavanaugh-McHugh A, Parra D
Pediatr Cardiol 2020 Feb;41(2):272-281. Epub 2019 Nov 14 doi: 10.1007/s00246-019-02252-7. PMID: 31728571
Sen O, Kadirogullari E, Aydin U, Guler S, Haydin S
Heart Surg Forum 2018 Oct 2;21(5):E418-E422. doi: 10.1532/hsf.2045. PMID: 30311897

Clinical prediction guides

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
Guirgis L, Valdeolmillos E, Vaksmann G, Karsenty C, Houeijeh A, Hery E, Amedro P, Pangaud N, Benbrik N, Vastel C, Legendre A, Jalal Z, Hadeed K, Ladouceur M, Iserin L, Laux D, Iriart X, Warin Fresse K, Leobon B, Harchaoui S, Lambert V, Bonefoy R, Basquin A, Chalard A, Douchin S, Bouzguenda I, Denis C, Lucron H, Bosser G, Barre E, Urbina-Hiel B, Helms P, Ansquer H, Hauet Q, Leborgne AS, Cohen L, Lupoglazoff JM, Guirgis M, Gronier C, Maragnes P, Moceri P, Mauran P, Bertail C, Lefort B, Godart F, Baruteau AE, Ovaert C, Bonnet D, Combes N, Khraiche D, Houyel L, Thambo JB, Mostefa-Kara M, Hascoet S; FRANCISCO investigators
Cardiol Young 2021 Oct;31(10):1557-1562. Epub 2021 Sep 23 doi: 10.1017/S1047951121002717. PMID: 34551835
Zhang H, Yue F, Zhang X, He J, Jiang Y, Liu R, Yu Y
Medicine (Baltimore) 2021 Jan 8;100(1):e24227. doi: 10.1097/MD.0000000000024227. PMID: 33429818Free PMC Article
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

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
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
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
Familiari A, Morlando M, Khalil A, Sonesson SE, Scala C, Rizzo G, Del Sordo G, Vassallo C, Elena Flacco M, Manzoli L, Lanzone A, Scambia G, Acharya G, D'Antonio F
Circulation 2017 Feb 21;135(8):772-785. Epub 2016 Dec 29 doi: 10.1161/CIRCULATIONAHA.116.024068. PMID: 28034902
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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