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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

Procedural Predictors and Outcomes of Percutaneous Secundum Atrial Septal Defect Closure in Children Aged <6 Years.
Cha SG, Kim MJ, Baek JS, Yu JJ, Kim YH
Circ J 2021 Aug 25;85(9):1527-1534. Epub 2021 Apr 21 doi: 10.1253/circj.CJ-20-1023. PMID: 33883381
Risk of Lifetime Psychiatric Morbidity in Adults With Atrial Septal Defect (from a Nation-Wide Cohort).
Nyboe C, Udholm S, Larsen SH, Rask C, Redington A, Hjortdal V
Am J Cardiol 2020 Aug 1;128:1-6. Epub 2020 May 19 doi: 10.1016/j.amjcard.2020.04.047. PMID: 32650900
Transcatheter Atrial Septal Defect Closure in Children with and without Fluoroscopy: A Comparison.
Ackermann S, Quandt D, Hagenbuch N, Niesse O, Christmann M, Knirsch W, Kretschmar O
J Interv Cardiol 2019;2019:6598637. Epub 2019 Apr 7 doi: 10.1155/2019/6598637. PMID: 31772540Free PMC Article
Right Ventricle before and after Atrial Septal Defect Device Closure.
Akula VS, Durgaprasad R, Velam V, Kasala L, Rodda M, Erathi HV
Echocardiography 2016 Sep;33(9):1381-8. Epub 2016 Apr 24 doi: 10.1111/echo.13250. PMID: 27109837
Late Electrical and Mechanical Remodeling After Atrial Septal Defect Closure in Children: Surgical Versus Percutaneous Approach.
Castaldi B, Vida VL, Argiolas A, Maschietto N, Cerutti A, Gregori D, Stellin G, Milanesi O
Ann Thorac Surg 2015 Jul;100(1):181-6. Epub 2015 Jun 2 doi: 10.1016/j.athoracsur.2015.03.017. PMID: 26047994

Diagnosis

Can Right Infra-Axillary Vertical Thoracotomy Make a Big Difference in Surgical Technique Preference?
Atalay A, Yilmaz M, Turkcan BS, Ecevit AN, Ozler B, Azak E, Ozisik K
Heart Lung Circ 2022 Oct;31(10):1419-1424. Epub 2022 Jul 21 doi: 10.1016/j.hlc.2022.06.661. PMID: 35871132
Atrial Septal Defect and the Risk of Ischemic Stroke in the Perioperative Period of Noncardiac Surgery.
Smilowitz NR, Subashchandran V, Berger JS
Am J Cardiol 2019 Oct 1;124(7):1120-1124. Epub 2019 Jul 15 doi: 10.1016/j.amjcard.2019.06.030. PMID: 31375244Free PMC Article
Short and long term complications of device closure of atrial septal defect and patent foramen ovale: meta-analysis of 28,142 patients from 203 studies.
Abaci A, Unlu S, Alsancak Y, Kaya U, Sezenoz B
Catheter Cardiovasc Interv 2013 Dec 1;82(7):1123-38. Epub 2013 Aug 31 doi: 10.1002/ccd.24875. PMID: 23412921
Three-dimensional transesophageal echocardiography of atrial septal defect: a qualitative and quantitative anatomic study.
Roberson DA, Cui W, Patel D, Tsang W, Sugeng L, Weinert L, Bharati S, Lang RM
J Am Soc Echocardiogr 2011 Jun;24(6):600-10. Epub 2011 Apr 7 doi: 10.1016/j.echo.2011.02.008. PMID: 21477991
Repaired and open atrial septal defects type II in adulthood: an epidemiological study of a large European cohort.
Engelfriet P, Meijboom F, Boersma E, Tijssen J, Mulder B
Int J Cardiol 2008 Jun 6;126(3):379-85. Epub 2007 Jun 22 doi: 10.1016/j.ijcard.2007.04.044. PMID: 17586067

Therapy

Risk of Lifetime Psychiatric Morbidity in Adults With Atrial Septal Defect (from a Nation-Wide Cohort).
Nyboe C, Udholm S, Larsen SH, Rask C, Redington A, Hjortdal V
Am J Cardiol 2020 Aug 1;128:1-6. Epub 2020 May 19 doi: 10.1016/j.amjcard.2020.04.047. PMID: 32650900
Transcatheter Atrial Septal Defect Closure in Children with and without Fluoroscopy: A Comparison.
Ackermann S, Quandt D, Hagenbuch N, Niesse O, Christmann M, Knirsch W, Kretschmar O
J Interv Cardiol 2019;2019:6598637. Epub 2019 Apr 7 doi: 10.1155/2019/6598637. PMID: 31772540Free PMC Article
Right Ventricle before and after Atrial Septal Defect Device Closure.
Akula VS, Durgaprasad R, Velam V, Kasala L, Rodda M, Erathi HV
Echocardiography 2016 Sep;33(9):1381-8. Epub 2016 Apr 24 doi: 10.1111/echo.13250. PMID: 27109837
Treat and Repair Strategy in Patients With Atrial Septal Defect and Significant Pulmonary Arterial Hypertension.
Kijima Y, Akagi T, Takaya Y, Akagi S, Nakagawa K, Kusano K, Sano S, Ito H
Circ J 2016;80(1):227-34. Epub 2015 Nov 13 doi: 10.1253/circj.CJ-15-0599. PMID: 26567484
Transcatheter closure of atrial septal defect in elderly patients with permanent atrial fibrillation.
Taniguchi M, Akagi T, Ohtsuki S, Okamoto Y, Tanabe Y, Watanabe N, Nakagawa K, Toh N, Kusano K, Sano S
Catheter Cardiovasc Interv 2009 Apr 1;73(5):682-6. doi: 10.1002/ccd.21870. PMID: 19133674

Prognosis

Incidence, persistence, and clinical relevance of iatrogenic atrial septal defects after percutaneous left atrial appendage occlusion.
Nelles D, Vij V, Al-Kassou B, Weber M, Vogelhuber J, Beiert T, Nickenig G, Schrickel JW, Sedaghat A
Echocardiography 2022 Jan;39(1):65-73. Epub 2021 Dec 17 doi: 10.1111/echo.15271. PMID: 34921426
Incidence and clinical relevance of persistent iatrogenic atrial septal defect after percutaneous mitral valve repair.
Alachkar MN, Alnaimi A, Reith S, Altiok E, Schröder J, Marx N, Almalla M
Sci Rep 2021 Jun 16;11(1):12700. doi: 10.1038/s41598-021-92255-3. PMID: 34135437Free PMC Article
Procedural Predictors and Outcomes of Percutaneous Secundum Atrial Septal Defect Closure in Children Aged <6 Years.
Cha SG, Kim MJ, Baek JS, Yu JJ, Kim YH
Circ J 2021 Aug 25;85(9):1527-1534. Epub 2021 Apr 21 doi: 10.1253/circj.CJ-20-1023. PMID: 33883381
Risk of Lifetime Psychiatric Morbidity in Adults With Atrial Septal Defect (from a Nation-Wide Cohort).
Nyboe C, Udholm S, Larsen SH, Rask C, Redington A, Hjortdal V
Am J Cardiol 2020 Aug 1;128:1-6. Epub 2020 May 19 doi: 10.1016/j.amjcard.2020.04.047. PMID: 32650900
Transesophageal echocardiography and fluoroscopy for percutaneous closure of atrial septal defects: A comparative study.
Xu W, Li J, Ye J, Yu J, Yu J, Zhang Z
Medicine (Baltimore) 2018 Oct;97(43):e12891. doi: 10.1097/MD.0000000000012891. PMID: 30412086Free PMC Article

Clinical prediction guides

Procedural Predictors and Outcomes of Percutaneous Secundum Atrial Septal Defect Closure in Children Aged <6 Years.
Cha SG, Kim MJ, Baek JS, Yu JJ, Kim YH
Circ J 2021 Aug 25;85(9):1527-1534. Epub 2021 Apr 21 doi: 10.1253/circj.CJ-20-1023. PMID: 33883381
Effect of Clopidogrel and Aspirin vs Aspirin Alone on Migraine Headaches After Transcatheter Atrial Septal Defect Closure: One-Year Results of the CANOA Randomized Clinical Trial.
Wintzer-Wehekind J, Horlick E, Ibrahim R, Cheema AN, Labinaz M, Nadeem N, Osten M, Côté M, Marsal JR, Rivest D, Marrero A, Houde C, Rodés-Cabau J
JAMA Cardiol 2021 Feb 1;6(2):209-213. doi: 10.1001/jamacardio.2020.4297. PMID: 32965476Free PMC Article
Treat and Repair Strategy in Patients With Atrial Septal Defect and Significant Pulmonary Arterial Hypertension.
Kijima Y, Akagi T, Takaya Y, Akagi S, Nakagawa K, Kusano K, Sano S, Ito H
Circ J 2016;80(1):227-34. Epub 2015 Nov 13 doi: 10.1253/circj.CJ-15-0599. PMID: 26567484
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
Transcatheter closure of atrial septal defect in elderly patients with permanent atrial fibrillation.
Taniguchi M, Akagi T, Ohtsuki S, Okamoto Y, Tanabe Y, Watanabe N, Nakagawa K, Toh N, Kusano K, Sano S
Catheter Cardiovasc Interv 2009 Apr 1;73(5):682-6. doi: 10.1002/ccd.21870. PMID: 19133674

Recent systematic reviews

Patent foramen ovale and perioperative stroke in noncardiac surgery: a systematic review and meta-analysis.
Rais G, Vassallo P, Schorer R, Bollen Pinto B, Putzu A
Br J Anaesth 2022 Dec;129(6):898-908. Epub 2022 Aug 18 doi: 10.1016/j.bja.2022.06.036. PMID: 35987705
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
Outcome of prenatally diagnosed fetal heterotaxy: systematic review and meta-analysis.
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
Patent foramen ovale, ischemic stroke and migraine: systematic review and stratified meta-analysis of association studies.
Davis D, Gregson J, Willeit P, Stephan B, Al-Shahi Salman R, Brayne C
Neuroepidemiology 2013;40(1):56-67. Epub 2012 Oct 11 doi: 10.1159/000341924. PMID: 23075508Free PMC Article

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