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Atrial septal defect 8(ASD8)

MedGen UID:
482420
•Concept ID:
C3280790
•
Congenital Abnormality
Synonym: ASD8
 
Gene (location): CITED2 (6q24.1)
 
Monarch Initiative: MONDO:0013750
OMIM®: 614433

Definition

Any atrial heart septal defect in which the cause of the disease is a mutation in the CITED2 gene. [from MONDO]

Clinical features

From HPO
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
Anomalous pulmonary venous return
MedGen UID:
1641363
•Concept ID:
C4551905
•
Congenital Abnormality
A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Patent foramen ovale closure in the management of cryptogenic stroke: a review of current literature and guideline statements.
Elzanaty AM, Patel N, Sabbagh E, Eltahawy EA
Curr Med Res Opin 2021 Mar;37(3):377-384. Epub 2021 Feb 8 doi: 10.1080/03007995.2021.1876648. PMID: 33460329
Canadian stroke best practice recommendations: Secondary prevention of stroke, sixth edition practice guidelines, update 2017.
Wein T, Lindsay MP, Côté R, Foley N, Berlingieri J, Bhogal S, Bourgoin A, Buck BH, Cox J, Davidson D, Dowlatshahi D, Douketis J, Falconer J, Field T, Gioia L, Gubitz G, Habert J, Jaspers S, Lum C, McNamara Morse D, Pageau P, Rafay M, Rodgerson A, Semchuk B, Sharma M, Shoamanesh A, Tamayo A, Smitko E, Gladstone DJ; Heart and Stroke Foundation Canadian Stroke Best Practice Committees
Int J Stroke 2018 Jun;13(4):420-443. Epub 2017 Nov 24 doi: 10.1177/1747493017743062. PMID: 29171361
Guidelines for the Echocardiographic Assessment of Atrial Septal Defect and Patent Foramen Ovale: From the American Society of Echocardiography and Society for Cardiac Angiography and Interventions.
Silvestry FE, Cohen MS, Armsby LB, Burkule NJ, Fleishman CE, Hijazi ZM, Lang RM, Rome JJ, Wang Y; American Society of Echocardiography; Society for Cardiac Angiography and Interventions
J Am Soc Echocardiogr 2015 Aug;28(8):910-58. doi: 10.1016/j.echo.2015.05.015. PMID: 26239900

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
Diagnosing Atrial Septal Defect from Electrocardiogram with Deep Learning.
Mori H, Inai K, Sugiyama H, Muragaki Y
Pediatr Cardiol 2021 Aug;42(6):1379-1387. Epub 2021 Apr 27 doi: 10.1007/s00246-021-02622-0. PMID: 33907875
State-of-the-Art Atrial Septal Defect Closure Devices for Congenital Heart.
O'Byrne ML, Levi DS
Interv Cardiol Clin 2019 Jan;8(1):11-21. doi: 10.1016/j.iccl.2018.08.008. PMID: 30449418Free PMC Article
Atrial septal defect surgery in adults--populational and epidemiological analysis.
Bryndza M, Wasilewski G, Pfitzner R, Kapelak B
Pol Merkur Lekarski 2015 Aug;39(230):77-80. PMID: 26319379

Diagnosis

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
Atrioventricular Septal Defects: Pathology, Imaging, and Treatment Options.
Taqatqa AS, Vettukattil JJ
Curr Cardiol Rep 2021 Jul 1;23(8):93. doi: 10.1007/s11886-021-01523-1. PMID: 34196822
Diagnosing Atrial Septal Defect from Electrocardiogram with Deep Learning.
Mori H, Inai K, Sugiyama H, Muragaki Y
Pediatr Cardiol 2021 Aug;42(6):1379-1387. Epub 2021 Apr 27 doi: 10.1007/s00246-021-02622-0. PMID: 33907875
State-of-the-Art Atrial Septal Defect Closure Devices for Congenital Heart.
O'Byrne ML, Levi DS
Interv Cardiol Clin 2019 Jan;8(1):11-21. doi: 10.1016/j.iccl.2018.08.008. PMID: 30449418Free PMC Article
Unroofing the diagnosis.
Cannavale G, Higgins CB, Ordovas KG
Int J Cardiovasc Imaging 2010 Dec;26(8):841-2. Epub 2010 Jul 8 doi: 10.1007/s10554-010-9667-3. PMID: 20614189

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
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
Patent Foramen Ovale Closure or Antiplatelet Therapy for Cryptogenic Stroke.
Søndergaard L, Kasner SE, Rhodes JF, Andersen G, Iversen HK, Nielsen-Kudsk JE, Settergren M, Sjöstrand C, Roine RO, Hildick-Smith D, Spence JD, Thomassen L; Gore REDUCE Clinical Study Investigators
N Engl J Med 2017 Sep 14;377(11):1033-1042. doi: 10.1056/NEJMoa1707404. PMID: 28902580
Atrial septal defect: spectrum of care.
Kharouf R, Luxenberg DM, Khalid O, Abdulla R
Pediatr Cardiol 2008 Mar;29(2):271-80. Epub 2007 Oct 23 doi: 10.1007/s00246-007-9052-8. PMID: 17955282

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
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
Diagnosing Atrial Septal Defect from Electrocardiogram with Deep Learning.
Mori H, Inai K, Sugiyama H, Muragaki Y
Pediatr Cardiol 2021 Aug;42(6):1379-1387. Epub 2021 Apr 27 doi: 10.1007/s00246-021-02622-0. PMID: 33907875
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
Atrial septal defect: spectrum of care.
Kharouf R, Luxenberg DM, Khalid O, Abdulla R
Pediatr Cardiol 2008 Mar;29(2):271-80. Epub 2007 Oct 23 doi: 10.1007/s00246-007-9052-8. PMID: 17955282

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
Diagnosing Atrial Septal Defect from Electrocardiogram with Deep Learning.
Mori H, Inai K, Sugiyama H, Muragaki Y
Pediatr Cardiol 2021 Aug;42(6):1379-1387. Epub 2021 Apr 27 doi: 10.1007/s00246-021-02622-0. PMID: 33907875
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
Unroofing the diagnosis.
Cannavale G, Higgins CB, Ordovas KG
Int J Cardiovasc Imaging 2010 Dec;26(8):841-2. Epub 2010 Jul 8 doi: 10.1007/s10554-010-9667-3. PMID: 20614189
Contrast echocardiography.
Roelandt J
Ultrasound Med Biol 1982;8(5):471-92. doi: 10.1016/0301-5629(82)90079-5. PMID: 6755849

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
Safety and Efficacy of the Amplatzer Septal Occluder: A Systematic Review and Meta-Analysis.
Heaton JN, Okoh AK, Suh S, Ozturk E, Salemi A, Waxman S, Tayal R
Cardiovasc Revasc Med 2022 Apr;37:52-60. Epub 2021 Jun 17 doi: 10.1016/j.carrev.2021.06.002. PMID: 34183276Free PMC Article
Prevalence and outcomes of pulmonary hypertension after percutaneous closure of atrial septal defect: a systematic review and meta-analysis.
Akseer S, Horlick E, Vishwanath V, Hobbes B, Huszti E, Mak S, Lee DS, Abrahamyan L
Eur Respir Rev 2020 Dec 31;29(158) Epub 2020 Dec 15 doi: 10.1183/16000617.0099-2020. PMID: 33328279Free PMC Article
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
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

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      Clinical tests in GTR
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      OMIM records containing genes associated with phenotypes registered in MedGen
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