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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
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
Atrial septal defect closure in adults: A ten-year experience.
Boudiche S, Chatti S, Amroussia R, Mghaieth F, Ziadi J, Farhati A, Ben Hammamia M, Tekaya MA, Ouali S, Guedira F, Denguir R, Mourali MS
Tunis Med 2019 Dec;97(12):1362-1369. PMID: 32173806
Atrioventricular septal defect.
Meisner H, Guenther T
Pediatr Cardiol 1998 Jul-Aug;19(4):276-81. doi: 10.1007/s002469900309. PMID: 9636249

Diagnosis

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
Atrial septal defect closure in adults: A ten-year experience.
Boudiche S, Chatti S, Amroussia R, Mghaieth F, Ziadi J, Farhati A, Ben Hammamia M, Tekaya MA, Ouali S, Guedira F, Denguir R, Mourali MS
Tunis Med 2019 Dec;97(12):1362-1369. PMID: 32173806
Coronary sinus atrial septal defect.
Joffe DC, Rivo J, Oxorn DC
Anesth Analg 2008 Oct;107(4):1163-5. doi: 10.1213/ane.0b013e3181806974. PMID: 18806021
Atrioventricular septal defect.
Meisner H, Guenther T
Pediatr Cardiol 1998 Jul-Aug;19(4):276-81. doi: 10.1007/s002469900309. PMID: 9636249
THE DIAGNOSIS and surgical management of atrial septal defect in an adult patient.
Spellman MW
J Natl Med Assoc 1957 Jul;49(4):239-45. PMID: 13439388Free PMC Article

Therapy

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
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
Atrial septal defect closure in adults: A ten-year experience.
Boudiche S, Chatti S, Amroussia R, Mghaieth F, Ziadi J, Farhati A, Ben Hammamia M, Tekaya MA, Ouali S, Guedira F, Denguir R, Mourali MS
Tunis Med 2019 Dec;97(12):1362-1369. PMID: 32173806
Patent foramen ovale: the known and the to be known.
Kutty S, Sengupta PP, Khandheria BK
J Am Coll Cardiol 2012 May 8;59(19):1665-71. doi: 10.1016/j.jacc.2011.09.085. PMID: 22554596
Percutaneous closure of atrial septal defect.
Ben Zekry S, Guthikonda S, Little SH, Nagueh SF, Garcia KM, Zoghbi WA
JACC Cardiovasc Imaging 2008 Jul;1(4):515-7. doi: 10.1016/j.jcmg.2008.04.011. PMID: 19356475

Prognosis

Incidence and predictors of persistent iatrogenic atrial septal defect following catheter ablation.
Kamada H, Iriki Y, Yoshimoto I, Ninomiya Y, Ichiki H, Maenosono R, Miyata M, Hamamoto Y, Horizoe Y, Ikeda Y, Ohishi M
J Cardiol 2024 Dec;84(6):372-378. Epub 2024 Jun 22 doi: 10.1016/j.jjcc.2024.06.007. PMID: 38914280
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
Atrial septal defect closure in adults: A ten-year experience.
Boudiche S, Chatti S, Amroussia R, Mghaieth F, Ziadi J, Farhati A, Ben Hammamia M, Tekaya MA, Ouali S, Guedira F, Denguir R, Mourali MS
Tunis Med 2019 Dec;97(12):1362-1369. PMID: 32173806
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

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
Atrial septal defect closure in adults: A ten-year experience.
Boudiche S, Chatti S, Amroussia R, Mghaieth F, Ziadi J, Farhati A, Ben Hammamia M, Tekaya MA, Ouali S, Guedira F, Denguir R, Mourali MS
Tunis Med 2019 Dec;97(12):1362-1369. PMID: 32173806
Positive reactions to nickel on a patch test do not predict clinical outcome of nickel alloy-based atrial septal defect occluder implantation.
Kim HJ, Shin JU, Lee J, Lee H, Jin S, Kim SH, Noh JY, Lee KH
Dermatology 2015;230(2):184-8. Epub 2015 Jan 23 doi: 10.1159/000371511. PMID: 25634825
Association between polymorphisms in AXIN1 gene and atrial septal defect.
Pu Y, Chen P, Zhou B, Wang Y, Song Y, Peng Y, Rao L, Zhang L
Biomarkers 2014 Dec;19(8):674-8. Epub 2014 Oct 30 doi: 10.3109/1354750X.2014.978895. PMID: 25355064
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

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
A Systematic Review and Meta-Analysis of the Association between Residual Shunts after Patent Foramen Ovale Closure and Long-Term Cerebrovascular Events.
Liu TT, Jiao RH, Chen T, Jiang ZA, Bai WL
Cerebrovasc Dis 2023;52(4):387-392. Epub 2023 Mar 7 doi: 10.1159/000527457. PMID: 36882039
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
A Systematic Review of the Semi-Sitting Position in Neurosurgical Patients with Patent Foramen Ovale: How Frequent Is Paradoxical Embolism?
Klein J, Juratli TA, Weise M, Schackert G
World Neurosurg 2018 Jul;115:196-200. Epub 2018 Apr 26 doi: 10.1016/j.wneu.2018.04.114. PMID: 29704690
Systematic review and meta-analysis of currently available clinical evidence on migraine and patent foramen ovale percutaneous closure: much ado about nothing?
Butera G, Biondi-Zoccai GG, Carminati M, Caputi L, Usai S, Bussone G, Meola G, Delogu AB, Sheiban I, Sangiorgi G
Catheter Cardiovasc Interv 2010 Mar 1;75(4):494-504. doi: 10.1002/ccd.22232. PMID: 20088014

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