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Ventricular septal defect 3(VSD3)

MedGen UID:
482415
Concept ID:
C3280785
Congenital Abnormality; Disease or Syndrome
Synonym: VSD3
 
Gene (location): NKX2-5 (5q35.1)
 
Monarch Initiative: MONDO:0013749
OMIM®: 614432

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). Other congenital cardiac defects caused by mutation in the NKX2-5 gene include atrial septal defect with or without atrioventricular conduction defects (ASD7; 108900), tetralogy of Fallot (see TOF, 187500), conotruncal malformations (see 217095), and hypoplastic left heart syndrome (HLHS2; 614435). For a discussion of genetic heterogeneity of ventricular septal defect, see VSD1 (614429). [from OMIM]

Clinical features

From HPO
Patent ductus arteriosus
MedGen UID:
4415
Concept ID:
C0013274
Congenital Abnormality
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Atrial septal defect
MedGen UID:
6753
Concept ID:
C0018817
Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Pulmonary artery stenosis
MedGen UID:
65965
Concept ID:
C0238397
Anatomical Abnormality
An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.

Professional guidelines

PubMed

Expert Consensus Panel:, Miller JR, Stephens EH, Goldstone AB, Glatz AC, Kane L, Van Arsdell GS, Stellin G, Barron DJ, d'Udekem Y, Benson L, Quintessenza J, Ohye RG, Talwar S, Fremes SE, Emani SM, Eghtesady P
J Thorac Cardiovasc Surg 2023 Jan;165(1):221-250. Epub 2022 Oct 26 doi: 10.1016/j.jtcvs.2022.07.025. PMID: 36522807
Omar S, Morgan GL, Panchal HB, Thourani V, Rihal CS, Patel R, Kherada N, Egbe AC, Beohar N
J Interv Cardiol 2018 Dec;31(6):939-948. Epub 2018 Aug 28 doi: 10.1111/joic.12556. PMID: 30318677
Yuan SM
Pediatr Neonatol 2017 Jun;58(3):211-215. Epub 2016 Nov 19 doi: 10.1016/j.pedneo.2016.08.004. PMID: 28017577

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
Yu LS, Lin WH, Lin SH, Wang J, Cao H, Wang ZC, Chen Q
Heart Surg Forum 2022 Jun 23;25(3):E469-E472. doi: 10.1532/hsf.4657. PMID: 35787760
van de Woestijne P, Mokhles M, van Beynum I, de Jong P, Wilschut J, Bogers A
J Card Surg 2022 Apr;37(4):960-966. Epub 2022 Feb 9 doi: 10.1111/jocs.16299. PMID: 35142386Free 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

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
Yu LS, Lin WH, Lin SH, Wang J, Cao H, Wang ZC, Chen Q
Heart Surg Forum 2022 Jun 23;25(3):E469-E472. doi: 10.1532/hsf.4657. PMID: 35787760
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
Soto B, Bargeron LM Jr, Diethelm E
Semin Roentgenol 1985 Jul;20(3):200-13. doi: 10.1016/0037-198x(85)90004-5. PMID: 3898389

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
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

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
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
Wang G, Liu R, Ma K, Zhang B, Pang K, Qi L, Hua Z, Li S
Cardiol Young 2021 May;31(5):799-803. Epub 2021 Jan 28 doi: 10.1017/S1047951120004643. PMID: 33504385

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
Yu LS, Lin WH, Lin SH, Wang J, Cao H, Wang ZC, Chen Q
Heart Surg Forum 2022 Jun 23;25(3):E469-E472. doi: 10.1532/hsf.4657. PMID: 35787760
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

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
Lenko E, Kulyabin Y, Zubritskiy A, Gorbatykh Y, Naberukhin Y, Nichay N, Bogachev-Prokophiev A, Karaskov A
Interact Cardiovasc Thorac Surg 2018 Jan 1;26(1):98-105. doi: 10.1093/icvts/ivx267. PMID: 29049707
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
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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