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Heart septal defect

MedGen UID:
6752
•Concept ID:
C0018816
•
Congenital Abnormality
Synonyms: Congenital septal defect; Congenital septal defects
SNOMED CT: Congenital septal defect (396351009); Congenital septal defect of heart (59494005); Congenital cardiac septal defect (59494005)
 
Monarch Initiative: MONDO:0002078

Definition

A congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHeart septal defect

Professional guidelines

PubMed

Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.
Linglart L, Gelb BD
Am J Med Genet C Semin Med Genet 2020 Mar;184(1):73-80. Epub 2020 Feb 5 doi: 10.1002/ajmg.c.31765. PMID: 32022400Free PMC Article
European position paper on the management of patients with patent foramen ovale. General approach and left circulation thromboembolism.
Pristipino C, Sievert H, D'Ascenzo F, Louis Mas J, Meier B, Scacciatella P, Hildick-Smith D, Gaita F, Toni D, Kyrle P, Thomson J, Derumeaux G, Onorato E, Sibbing D, Germonpré P, Berti S, Chessa M, Bedogni F, Dudek D, Hornung M, Zamorano J; Evidence Synthesis Team; Eapci Scientific Documents and Initiatives Committee; International Experts
Eur Heart J 2019 Oct 7;40(38):3182-3195. doi: 10.1093/eurheartj/ehy649. PMID: 30358849
Diagnosis, imaging and clinical management of aortic coarctation.
Dijkema EJ, Leiner T, Grotenhuis HB
Heart 2017 Aug;103(15):1148-1155. Epub 2017 Apr 4 doi: 10.1136/heartjnl-2017-311173. PMID: 28377475

Recent clinical studies

Etiology

Congenital diaphragmatic hernia with congenital heart disease including ventricular septal defect: Risk factors.
Hirano Y, Terui K, Kudo W, Takenouchi A, Komatsu S, Oita S, Yoshizawa H, Fumita T, Yoshino Y, Hishiki T
Pediatr Int 2025 Jan-Dec;67(1):e70126. doi: 10.1111/ped.70126. PMID: 40492670
Cause-Specific Mortality of Patients With Atrial Septal Defect and Up to 50 Years of Follow-Up.
Muroke V, Jalanko M, Haukka J, Sinisalo J
J Am Heart Assoc 2023 Jan 17;12(2):e027635. Epub 2023 Jan 10 doi: 10.1161/JAHA.122.027635. PMID: 36625312Free PMC Article
The effects of music intervention on anxiety and stress responses in adults with CHD undergoing cardiac catheterisation.
Moon JR, Song J, Huh J, Kang IS, Kim JH, Park SW, Chang SA
Cardiol Young 2023 Feb;33(2):213-220. Epub 2022 Mar 14 doi: 10.1017/S1047951122000439. PMID: 35285439
In vitro comparison of three percutaneous atrial septal defect closure devices for endothelialisation and haemocompatibility.
Levy Y, Jalal Z, Aussel A, Thebaud NB, Renard M, Bareille R, Ripoche J, Durand M, Thambo JB, Bordenave L
Arch Cardiovasc Dis 2020 Aug-Sep;113(8-9):503-512. Epub 2020 Jul 24 doi: 10.1016/j.acvd.2020.03.022. PMID: 32718809
Pulmonary arterial hypertension in adults born with a heart septal defect: the Euro Heart Survey on adult congenital heart disease.
Engelfriet PM, Duffels MG, Möller T, Boersma E, Tijssen JG, Thaulow E, Gatzoulis MA, Mulder BJ
Heart 2007 Jun;93(6):682-7. Epub 2006 Dec 12 doi: 10.1136/hrt.2006.098848. PMID: 17164490Free PMC Article

Diagnosis

Congenital diaphragmatic hernia with congenital heart disease including ventricular septal defect: Risk factors.
Hirano Y, Terui K, Kudo W, Takenouchi A, Komatsu S, Oita S, Yoshizawa H, Fumita T, Yoshino Y, Hishiki T
Pediatr Int 2025 Jan-Dec;67(1):e70126. doi: 10.1111/ped.70126. PMID: 40492670
Various techniques for transcatheter retrieval of the atrial septal defect or patent foramen ovale closure devices: a systematic review.
Khosravi A, Mirbod SM, Boshtam M, Shahsanaei F, Zaker E, Tajmirriahi M, Khaledifar A, Mirbod SM, Movahed MR
J Invasive Cardiol 2024 Apr;36(4) doi: 10.25270/jic/23.00290. PMID: 38412436
Cause-Specific Mortality of Patients With Atrial Septal Defect and Up to 50 Years of Follow-Up.
Muroke V, Jalanko M, Haukka J, Sinisalo J
J Am Heart Assoc 2023 Jan 17;12(2):e027635. Epub 2023 Jan 10 doi: 10.1161/JAHA.122.027635. PMID: 36625312Free PMC Article
Patent Foramen Ovale With Atrial Septal Aneurysm Is Strongly Associated With Migraine With Aura: A Large Observational Study.
Snijder RJ, Luermans JG, de Heij AH, Thijs V, Schonewille WJ, Van De Bruaene A, Swaans MJ, Budts WI, Post MC
J Am Heart Assoc 2016 Dec 1;5(12) doi: 10.1161/JAHA.116.003771. PMID: 27930349Free PMC Article
Micro-bubble transcranial Doppler ultrasound for exclusion of right-to-left circulatory shunts: why should we provide the service?
Chiu AH, Haluszkiewicz E, McAuliffe W
J Med Imaging Radiat Oncol 2014 Aug;58(4):464-8. Epub 2014 Mar 3 doi: 10.1111/1754-9485.12162. PMID: 24589171

Therapy

The effects of music intervention on anxiety and stress responses in adults with CHD undergoing cardiac catheterisation.
Moon JR, Song J, Huh J, Kang IS, Kim JH, Park SW, Chang SA
Cardiol Young 2023 Feb;33(2):213-220. Epub 2022 Mar 14 doi: 10.1017/S1047951122000439. PMID: 35285439
In vitro comparison of three percutaneous atrial septal defect closure devices for endothelialisation and haemocompatibility.
Levy Y, Jalal Z, Aussel A, Thebaud NB, Renard M, Bareille R, Ripoche J, Durand M, Thambo JB, Bordenave L
Arch Cardiovasc Dis 2020 Aug-Sep;113(8-9):503-512. Epub 2020 Jul 24 doi: 10.1016/j.acvd.2020.03.022. PMID: 32718809
Risk Factors for Major Adverse Events after Surgical Closure of Ventricular Septal Defect in Patients Less than 1 Year of Age: A Single-Center Retrospective.
Ergün S, Genç SB, Yildiz O, Öztürk E, Kafalı HC, Ayyıldız P, Haydin S
Braz J Cardiovasc Surg 2019 Jun 1;34(3):335-343. doi: 10.21470/1678-9741-2018-0299. PMID: 31310473Free PMC Article
Long-Term Outcomes After Percutaneous Closure of Ostium Secundum Atrial Septal Defect in the Young: A Nationwide Cohort Study.
Jalal Z, Hascoët S, Gronier C, Godart F, Mauri L, Dauphin C, Lefort B, Lachaud M, Piot D, Dinet ML, Levy Y, Fraisse A, Ovaert C, Pillois X, Lusson JR, Petit J, Baruteau AE, Thambo JB
JACC Cardiovasc Interv 2018 Apr 23;11(8):795-804. doi: 10.1016/j.jcin.2018.01.262. PMID: 29673513
Hypoxia due to positive pressure ventilation in Edwards' syndrome: A case report.
Hoon SK, Kang SW, Kwak SH, Kim J
J Int Med Res 2018 Feb;46(2):895-900. Epub 2017 Nov 10 doi: 10.1177/0300060517734680. PMID: 29125001Free PMC Article

Prognosis

Congenital diaphragmatic hernia with congenital heart disease including ventricular septal defect: Risk factors.
Hirano Y, Terui K, Kudo W, Takenouchi A, Komatsu S, Oita S, Yoshizawa H, Fumita T, Yoshino Y, Hishiki T
Pediatr Int 2025 Jan-Dec;67(1):e70126. doi: 10.1111/ped.70126. PMID: 40492670
Cause-Specific Mortality of Patients With Atrial Septal Defect and Up to 50 Years of Follow-Up.
Muroke V, Jalanko M, Haukka J, Sinisalo J
J Am Heart Assoc 2023 Jan 17;12(2):e027635. Epub 2023 Jan 10 doi: 10.1161/JAHA.122.027635. PMID: 36625312Free PMC Article
Risk Factors for Major Adverse Events after Surgical Closure of Ventricular Septal Defect in Patients Less than 1 Year of Age: A Single-Center Retrospective.
Ergün S, Genç SB, Yildiz O, Öztürk E, Kafalı HC, Ayyıldız P, Haydin S
Braz J Cardiovasc Surg 2019 Jun 1;34(3):335-343. doi: 10.21470/1678-9741-2018-0299. PMID: 31310473Free PMC Article

Clinical prediction guides

Congenital diaphragmatic hernia with congenital heart disease including ventricular septal defect: Risk factors.
Hirano Y, Terui K, Kudo W, Takenouchi A, Komatsu S, Oita S, Yoshizawa H, Fumita T, Yoshino Y, Hishiki T
Pediatr Int 2025 Jan-Dec;67(1):e70126. doi: 10.1111/ped.70126. PMID: 40492670
In vitro comparison of three percutaneous atrial septal defect closure devices for endothelialisation and haemocompatibility.
Levy Y, Jalal Z, Aussel A, Thebaud NB, Renard M, Bareille R, Ripoche J, Durand M, Thambo JB, Bordenave L
Arch Cardiovasc Dis 2020 Aug-Sep;113(8-9):503-512. Epub 2020 Jul 24 doi: 10.1016/j.acvd.2020.03.022. PMID: 32718809
Risk Factors for Major Adverse Events after Surgical Closure of Ventricular Septal Defect in Patients Less than 1 Year of Age: A Single-Center Retrospective.
Ergün S, Genç SB, Yildiz O, Öztürk E, Kafalı HC, Ayyıldız P, Haydin S
Braz J Cardiovasc Surg 2019 Jun 1;34(3):335-343. doi: 10.21470/1678-9741-2018-0299. PMID: 31310473Free PMC Article
Long-Term Outcomes After Percutaneous Closure of Ostium Secundum Atrial Septal Defect in the Young: A Nationwide Cohort Study.
Jalal Z, Hascoët S, Gronier C, Godart F, Mauri L, Dauphin C, Lefort B, Lachaud M, Piot D, Dinet ML, Levy Y, Fraisse A, Ovaert C, Pillois X, Lusson JR, Petit J, Baruteau AE, Thambo JB
JACC Cardiovasc Interv 2018 Apr 23;11(8):795-804. doi: 10.1016/j.jcin.2018.01.262. PMID: 29673513
Patent Foramen Ovale With Atrial Septal Aneurysm Is Strongly Associated With Migraine With Aura: A Large Observational Study.
Snijder RJ, Luermans JG, de Heij AH, Thijs V, Schonewille WJ, Van De Bruaene A, Swaans MJ, Budts WI, Post MC
J Am Heart Assoc 2016 Dec 1;5(12) doi: 10.1161/JAHA.116.003771. PMID: 27930349Free PMC Article

Recent systematic reviews

Various techniques for transcatheter retrieval of the atrial septal defect or patent foramen ovale closure devices: a systematic review.
Khosravi A, Mirbod SM, Boshtam M, Shahsanaei F, Zaker E, Tajmirriahi M, Khaledifar A, Mirbod SM, Movahed MR
J Invasive Cardiol 2024 Apr;36(4) doi: 10.25270/jic/23.00290. PMID: 38412436

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