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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

Application of Artificial Intelligence-Based Auxiliary Diagnosis in Congenital Heart Disease Screening.
Yang H, Pan J, Wang W, Guo T, Ma T
Anatol J Cardiol 2023 Apr;27(4):205-216. doi: 10.14744/AnatolJCardiol.2022.1386. PMID: 36995059Free PMC Article
Prenatal Diagnosis and Postnatal Outcome of Eight Cases with Criss-Cross Heart - A Multicenter Case Series.
Vorisek CN, Kurkevych A, Kuhn V, Stessig R, Ritgen J, Degenhardt J, Enzensberger C, Wolter A, Götte M, Khalil M, Akintürk H, Axt-Fliedner R
Ultraschall Med 2022 Dec;43(6):e90-e97. Epub 2020 Jul 16 doi: 10.1055/a-1205-0289. PMID: 32674186
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

Comparison of atrial septal defect and patent foramen ovale in cryptogenic strokes.
Delabays C, Correia P, Eeckhout E, Delabays A, Michel P
J Stroke Cerebrovasc Dis 2024 Jun;33(6):107664. Epub 2024 Feb 28 doi: 10.1016/j.jstrokecerebrovasdis.2024.107664. PMID: 38428550
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
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
The Effect of Continuous Field Block through Intercostal Muscles after Atrial Septal Defect Closure via a Mini-Right Thoracotomy in Pediatric Patients.
Suzuki K, Sasaki T, Miyagi Y, Mori K, Kishikawa H, Ishii Y, Sakamoto A, Nitta T
J Nippon Med Sch 2021 Sep 1;88(4):347-353. Epub 2020 Nov 30 doi: 10.1272/jnms.JNMS.2021_88-507. PMID: 33250477
Severe hypoxaemia during pneumoperitoneum for laparoscopic appendicectomy because of atrial septal defect.
Zuin M, Rigatelli G, Fogato L, Roncon L
J Cardiovasc Med (Hagerstown) 2020 Aug;21(8):618-619. doi: 10.2459/JCM.0000000000000946. PMID: 32618763

Diagnosis

Association of atrial septal defect and Brugada syndrome in a young woman.
Tsuchihashi T, Kamada M, Nakano Y
Cardiol Young 2022 Aug;32(8):1344-1346. Epub 2021 Dec 20 doi: 10.1017/S1047951121005023. PMID: 34924076
Superior sinus-venosus atrial septal defect complicated by partial anomalous pulmonary venous connection detected by repeated transthoracic echocardiography in an adult.
Omomo Y, Mochizuki Y, Chino S, Oyama N, Fujii T, Tomita H, Shinke T
J Echocardiogr 2022 Mar;20(1):57-58. Epub 2020 Sep 3 doi: 10.1007/s12574-020-00488-4. PMID: 32885388
The Effect of Continuous Field Block through Intercostal Muscles after Atrial Septal Defect Closure via a Mini-Right Thoracotomy in Pediatric Patients.
Suzuki K, Sasaki T, Miyagi Y, Mori K, Kishikawa H, Ishii Y, Sakamoto A, Nitta T
J Nippon Med Sch 2021 Sep 1;88(4):347-353. Epub 2020 Nov 30 doi: 10.1272/jnms.JNMS.2021_88-507. PMID: 33250477
Ventricular and atrial septal defects.
McDaniel NL
Pediatr Rev 2001 Aug;22(8):265-70. doi: 10.1542/pir.22-8-265. PMID: 11483852
The diagnostic features of atrioventricular septal defect with common atrioventricular junction.
Anderson RH, Ho SY, Falcao S, Daliento L, Rigby ML
Cardiol Young 1998 Jan;8(1):33-49. doi: 10.1017/s1047951100004613. PMID: 9680269

Therapy

Lost and found: late embolization of an atrial septal occluder device.
Ortiz-Leon XA, Fritche-Salazar JF, Posada-Martinez EL, Arias-Godinez JA, Rodriguez-Zanella H
Eur Heart J Cardiovasc Imaging 2023 Jul 24;24(8):e201. doi: 10.1093/ehjci/jead098. PMID: 37171673
A right-to-left atrial shunt via an iatrogenic atrial septal defect after atrial fibrillation ablation induced by a percutaneous left ventricular assist device.
Tamura S, Shimeno K, Abe Y, Naruko T
Eur Heart J 2022 Feb 22;43(8):839. doi: 10.1093/eurheartj/ehaa1027. PMID: 33324965
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
PFO Closure for Cryptogenic Stroke.
Gillow SJ, Lee VH
Curr Atheroscler Rep 2015 Aug;17(8):45. doi: 10.1007/s11883-015-0525-6. PMID: 26076907
Patent foramen ovale and cryptogenic stroke. A critical review.
Ballerini L, Cifarelli A, Ammirati A, Gimigliano F
J Cardiovasc Med (Hagerstown) 2007 Jan;8(1):34-8. doi: 10.2459/01.JCM.0000247433.82322.df. PMID: 17255814

Prognosis

How reliably does prenatal echocardiography predict urgent balloon atrial septostomy in fetuses with d-TGA?
Gezer M, Demirci O, Yücel İK
J Gynecol Obstet Hum Reprod 2024 Oct;53(8):102813. Epub 2024 Jun 8 doi: 10.1016/j.jogoh.2024.102813. PMID: 38857825
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
The Effect of Continuous Field Block through Intercostal Muscles after Atrial Septal Defect Closure via a Mini-Right Thoracotomy in Pediatric Patients.
Suzuki K, Sasaki T, Miyagi Y, Mori K, Kishikawa H, Ishii Y, Sakamoto A, Nitta T
J Nippon Med Sch 2021 Sep 1;88(4):347-353. Epub 2020 Nov 30 doi: 10.1272/jnms.JNMS.2021_88-507. PMID: 33250477
Transcatheter Atrial Septal Defect Closure in a 'Nonagenarian' with Intractable Heart Failure.
Suzuki M, Matsumoto K, Suto M, Taniguchi Y, Tanaka H, Otake H, Shinke T, Hirata KI
Intern Med 2020 Apr 15;59(8):1059-1063. Epub 2020 Feb 1 doi: 10.2169/internalmedicine.4070-19. PMID: 32009097Free PMC Article

Clinical prediction guides

How reliably does prenatal echocardiography predict urgent balloon atrial septostomy in fetuses with d-TGA?
Gezer M, Demirci O, Yücel İK
J Gynecol Obstet Hum Reprod 2024 Oct;53(8):102813. Epub 2024 Jun 8 doi: 10.1016/j.jogoh.2024.102813. PMID: 38857825
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
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
Right-to-left shunt and migraine: the strength of the relationship.
Wammes-van der Heijden EA, Tijssen CC, Egberts AC
Cephalalgia 2006 Feb;26(2):208-13. doi: 10.1111/j.1468-2982.2005.01024.x. PMID: 16426277
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
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
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
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
Transcranial Doppler: Does Addition of Blood to Agitated Saline Affect Sensitivity for Detecting Cardiac Right-to-Left Shunt?
Mojadidi MK, Zhang L, Chugh Y, Eshtehardi P, Hovnanians N, Gevorgyan R, Mojaddedi S, Nezami N, Zaman MO, Rafique A, Villablanca PA, Tobis JM
Echocardiography 2016 Aug;33(8):1219-27. Epub 2016 Apr 20 doi: 10.1111/echo.13231. PMID: 27095475

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