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Atrial septal defect 4(ASD4)

MedGen UID:
369556
•Concept ID:
C1969657
•
Congenital Abnormality; Disease or Syndrome
Synonym: ASD4
 
Gene (location): TBX20 (7p14.2)
 
Monarch Initiative: MONDO:0012654
OMIM®: 611363

Definition

Any atrial heart septal defect in which the cause of the disease is a mutation in the TBX20 gene. [from MONDO]

Clinical features

From HPO
Coarctation of aorta
MedGen UID:
1617
•Concept ID:
C0003492
•
Congenital Abnormality
Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.
See: Feature record | Search on this feature
Patent foramen ovale
MedGen UID:
8891
•Concept ID:
C0016522
•
Congenital Abnormality
Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Prenatal diagnosis and outcomes for fetuses with suspected pelvic kidney.
Sahin R, Tanacan A, Serbetci H, Onur Ozkavak O, Haksever M, Simsek A, Kara O, Sahin D
Eur J Obstet Gynecol Reprod Biol 2024 Jun;297:138-141. Epub 2024 Apr 15 doi: 10.1016/j.ejogrb.2024.04.014. PMID: 38636123

Recent clinical studies

Etiology

Outcome of transcatheter atrial septal defect closure in a nationwide cohort.
Muroke V, Jalanko M, Haukka J, Hartikainen J, Tahvanainen A, Ukkonen H, Ylitalo K, Pihkala J, Sinisalo J
Ann Med 2023 Dec;55(1):615-623. doi: 10.1080/07853890.2023.2178669. PMID: 36786506Free PMC Article
Atrial Septal Defect Closure Via Mini Thoracotomy and with Peripheral Cannulation.
Bhattarai A, Sharma Paudel B, Shah S, Pandey A, Khakural P, Baral R, Thapaliya K, Koirala B
J Nepal Health Res Counc 2022 Mar 13;19(4):725-729. doi: 10.33314/jnhrc.v19i04.3904. PMID: 35615829
Angioscopic Evaluation of Atrial Septal Defect Closure Device Neo-Endothelialization.
Tanabe Y, Suzuki T, Kuwata S, Izumo M, Kawaguchi H, Ogoda S, Kotoku N, Sato Y, Nishikawa H, Kaihara T, Koga M, Mitarai T, Okuyama K, Kamijima R, Ishibashi Y, Yoneyama K, Higuma T, Harada T, Akashi YJ
J Am Heart Assoc 2021 Sep 21;10(18):e019282. Epub 2021 Sep 17 doi: 10.1161/JAHA.120.019282. PMID: 34533044Free PMC Article
Impaired ventilatory efficiency after closure of atrial or ventricular septal defect.
Heiberg J, Nyboe C, Hjortdal VE
Scand Cardiovasc J 2017 Aug;51(4):221-227. Epub 2017 May 13 doi: 10.1080/14017431.2017.1326623. PMID: 28502187
Atrioventricular septal defect.
Meisner H, Guenther T
Pediatr Cardiol 1998 Jul-Aug;19(4):276-81. doi: 10.1007/s002469900309. PMID: 9636249

Diagnosis

Atrial septal defect patients have an elevated risk for infective endocarditis.
Muroke V, Jalanko M, Haukka J, Pätilä T, Hartikainen J, Tahvanainen A, Ukkonen H, Ylitalo K, Anttila V, Pihkala J, Sinisalo J
Scand Cardiovasc J 2023 Dec;57(1):2215490. doi: 10.1080/14017431.2023.2215490. PMID: 37264780
Outcome of transcatheter atrial septal defect closure in a nationwide cohort.
Muroke V, Jalanko M, Haukka J, Hartikainen J, Tahvanainen A, Ukkonen H, Ylitalo K, Pihkala J, Sinisalo J
Ann Med 2023 Dec;55(1):615-623. doi: 10.1080/07853890.2023.2178669. PMID: 36786506Free PMC Article
Efficacy of treat-and-repair strategy for atrial septal defect with pulmonary arterial hypertension.
Takaya Y, Akagi T, Sakamoto I, Kanazawa H, Nakazawa G, Murakami T, Yao A, Nanasato M, Saji M, Hirokami M, Fuku Y, Hosokawa S, Tada N, Matsumoto K, Imai M, Nakagawa K, Ito H
Heart 2022 Mar;108(5):382-387. Epub 2021 Jun 15 doi: 10.1136/heartjnl-2021-319096. PMID: 34415851Free PMC Article
Impaired ventilatory efficiency after closure of atrial or ventricular septal defect.
Heiberg J, Nyboe C, Hjortdal VE
Scand Cardiovasc J 2017 Aug;51(4):221-227. Epub 2017 May 13 doi: 10.1080/14017431.2017.1326623. PMID: 28502187
Atrioventricular septal defect.
Meisner H, Guenther T
Pediatr Cardiol 1998 Jul-Aug;19(4):276-81. doi: 10.1007/s002469900309. PMID: 9636249

Therapy

Outcome of transcatheter atrial septal defect closure in a nationwide cohort.
Muroke V, Jalanko M, Haukka J, Hartikainen J, Tahvanainen A, Ukkonen H, Ylitalo K, Pihkala J, Sinisalo J
Ann Med 2023 Dec;55(1):615-623. doi: 10.1080/07853890.2023.2178669. PMID: 36786506Free PMC Article
Iatrogenic atrial septal defect after HotBalloon ablation of atrial fibrillation.
Nakamura Y, Sohara H, Ihara M
Heart Vessels 2022 Aug;37(8):1418-1424. Epub 2022 Feb 21 doi: 10.1007/s00380-022-02039-6. PMID: 35188586
Efficacy of treat-and-repair strategy for atrial septal defect with pulmonary arterial hypertension.
Takaya Y, Akagi T, Sakamoto I, Kanazawa H, Nakazawa G, Murakami T, Yao A, Nanasato M, Saji M, Hirokami M, Fuku Y, Hosokawa S, Tada N, Matsumoto K, Imai M, Nakagawa K, Ito H
Heart 2022 Mar;108(5):382-387. Epub 2021 Jun 15 doi: 10.1136/heartjnl-2021-319096. PMID: 34415851Free PMC Article
Impaired ventilatory efficiency after closure of atrial or ventricular septal defect.
Heiberg J, Nyboe C, Hjortdal VE
Scand Cardiovasc J 2017 Aug;51(4):221-227. Epub 2017 May 13 doi: 10.1080/14017431.2017.1326623. PMID: 28502187
Interventional catheterization.
Nakanishi T
Curr Opin Cardiol 2000 Jul;15(4):211-5. doi: 10.1097/00001573-200007000-00002. PMID: 11139083

Prognosis

Outcome of transcatheter atrial septal defect closure in a nationwide cohort.
Muroke V, Jalanko M, Haukka J, Hartikainen J, Tahvanainen A, Ukkonen H, Ylitalo K, Pihkala J, Sinisalo J
Ann Med 2023 Dec;55(1):615-623. doi: 10.1080/07853890.2023.2178669. PMID: 36786506Free PMC Article
Atrial fibrillation following transcatheter atrial septal defect closure: a systematic review and meta-analysis.
Himelfarb JD, Shulman H, Olesovsky CJ, Rumman RK, Oliva L, Friedland J, Farrell A, Huszti E, Horlick E, Abrahamyan L
Heart 2022 Jul 13;108(15):1216-1224. doi: 10.1136/heartjnl-2021-319794. PMID: 34675040
Iatrogenic atrial septal defect after percutaneous left atrial appendage closure: a single-center study.
Puga L, Teixeira R, Paiva L, Ribeiro JM, Gameiro J, Sousa JP, Costa M, Gonçalves L
Int J Cardiovasc Imaging 2021 Aug;37(8):2359-2368. Epub 2021 Mar 14 doi: 10.1007/s10554-021-02212-4. PMID: 33715110
Imaging for Patient's Selection and Guidance of LAA and ASD Percutaneous and Surgical Closure.
Faletra FF, Saric M, Saw J, Lempereur M, Hanke T, Vannan MA
JACC Cardiovasc Imaging 2021 Jan;14(1):3-21. Epub 2020 Jul 15 doi: 10.1016/j.jcmg.2019.06.032. PMID: 32682721
Atrioventricular septal defect.
Meisner H, Guenther T
Pediatr Cardiol 1998 Jul-Aug;19(4):276-81. doi: 10.1007/s002469900309. PMID: 9636249

Clinical prediction guides

Rightvertical axillary incision for atrial septal defect: a propensity score matched study.
Yang X, Hu Y, Dong J, Huang P, Luo J, Yang G, Deng X
J Cardiothorac Surg 2022 Oct 5;17(1):256. doi: 10.1186/s13019-022-01999-0. PMID: 36199116Free PMC Article
Iatrogenic atrial septal defect after HotBalloon ablation of atrial fibrillation.
Nakamura Y, Sohara H, Ihara M
Heart Vessels 2022 Aug;37(8):1418-1424. Epub 2022 Feb 21 doi: 10.1007/s00380-022-02039-6. PMID: 35188586
Angioscopic Evaluation of Atrial Septal Defect Closure Device Neo-Endothelialization.
Tanabe Y, Suzuki T, Kuwata S, Izumo M, Kawaguchi H, Ogoda S, Kotoku N, Sato Y, Nishikawa H, Kaihara T, Koga M, Mitarai T, Okuyama K, Kamijima R, Ishibashi Y, Yoneyama K, Higuma T, Harada T, Akashi YJ
J Am Heart Assoc 2021 Sep 21;10(18):e019282. Epub 2021 Sep 17 doi: 10.1161/JAHA.120.019282. PMID: 34533044Free PMC Article
Double trouble.
Martín M, Ríos E, García-Ruíz JM, Corros C, Hevia S, de la Hera JM, Morís C
Int J Cardiovasc Imaging 2012 Apr;28(4):685-6. Epub 2010 Dec 1 doi: 10.1007/s10554-010-9758-1. PMID: 21120610
Computed tomography of septal defects.
Rajiah P, Kanne JP
J Cardiovasc Comput Tomogr 2010 Jul-Aug;4(4):231-45. Epub 2010 Jun 2 doi: 10.1016/j.jcct.2010.05.005. PMID: 20579615

Recent systematic reviews

Transcatheter closure of atrial septal defect in the elderly: a systematic review and meta-analysis.
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
Transcatheter versus surgical closure of atrial septal defects: a systematic review and meta-analysis of clinical outcomes.
Chambault AL, Olsen K, Brown LJ, Mellor SL, Sorathia N, Thomas AE, Kothari N, Harky A
Cardiol Young 2022 Jan;32(1):1-9. Epub 2021 Nov 25 doi: 10.1017/S1047951121004583. PMID: 34819196
Atrial fibrillation following transcatheter atrial septal defect closure: a systematic review and meta-analysis.
Himelfarb JD, Shulman H, Olesovsky CJ, Rumman RK, Oliva L, Friedland J, Farrell A, Huszti E, Horlick E, Abrahamyan L
Heart 2022 Jul 13;108(15):1216-1224. doi: 10.1136/heartjnl-2021-319794. PMID: 34675040
Global birth prevalence of congenital heart defects 1970-2017: updated systematic review and meta-analysis of 260 studies.
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
Selective serotonin reuptake inhibitor use during early pregnancy and congenital malformations: a systematic review and meta-analysis of cohort studies of more than 9 million births.
Gao SY, Wu QJ, Sun C, Zhang TN, Shen ZQ, Liu CX, Gong TT, Xu X, Ji C, Huang DH, Chang Q, Zhao YH
BMC Med 2018 Nov 12;16(1):205. doi: 10.1186/s12916-018-1193-5. PMID: 30415641Free PMC Article

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