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Atrial septal defect 3(ASD3)

MedGen UID:
481420
•Concept ID:
C3279790
•
Congenital Abnormality; Disease or Syndrome
Synonym: ASD3
 
Gene (location): MYH6 (14q11.2)
 
Monarch Initiative: MONDO:0013567
OMIM®: 614089

Definition

Any atrial heart septal defect in which the cause of the disease is a mutation in the MYH6 gene. [from MONDO]

Clinical features

From HPO
Atrial septal defect, ostium secundum type
MedGen UID:
91034
•Concept ID:
C0344724
•
Congenital Abnormality
A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Heterogeneity of Treatment Effects in an Analysis of Pooled Individual Patient Data From Randomized Trials of Device Closure of Patent Foramen Ovale After Stroke.
Kent DM, Saver JL, Kasner SE, Nelson J, Carroll JD, Chatellier G, Derumeaux G, Furlan AJ, Herrmann HC, Jüni P, Kim JS, Koethe B, Lee PH, Lefebvre B, Mattle HP, Meier B, Reisman M, Smalling RW, Soendergaard L, Song JK, Mas JL, Thaler DE
JAMA 2021 Dec 14;326(22):2277-2286. doi: 10.1001/jama.2021.20956. PMID: 34905030Free PMC Article
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
Ebstein's Anomaly: Genetics, Clinical Manifestations, and Management.
Yuan SM
Pediatr Neonatol 2017 Jun;58(3):211-215. Epub 2016 Nov 19 doi: 10.1016/j.pedneo.2016.08.004. PMID: 28017577

Recent clinical studies

Etiology

Clinical effects of major aortopulmonary collateral arteries in term neonates diagnosed with transposition of the great arteries.
Kamalı H, Tanıdır İC, Öztürk E, Paksoy S, Guzeltas A, Haydin S, Hatemi AC
Cardiol Young 2023 Nov;33(11):2363-2368. Epub 2023 Oct 13 doi: 10.1017/S1047951123003384. PMID: 37828857
Resource utilisation in paediatric patients with secundum atrial septal defects.
Ziebell DS, Ghaleb S, Anderson J, Statile CJ
Cardiol Young 2020 Mar;30(3):383-387. Epub 2020 Feb 10 doi: 10.1017/S104795112000013X. PMID: 32036805
The importance of heart murmur in the neonatal period and justification of echocardiographic review.
Kardasevic M, Kardasevic A
Med Arch 2014 Aug;68(4):282-4. Epub 2014 Jul 31 doi: 10.5455/medarh.2014.68.282-284. PMID: 25568554Free PMC Article
Growth of an atrial septal defect: missing the window for transcatheter closure.
Tortoriello TA, McMahon C, Kovalchin JP, Bricker JT, Grifka RG
Pediatr Cardiol 2002 Sep-Oct;23(5):542-4. doi: 10.1007/s00246-001-0068-1. PMID: 12189410
Aortopulmonary septal defects. A review of the literature and report of ten cases.
Bertolini A, Dalmonte P, Bava GL, Moretti R, Cervo G, Marasini M
J Cardiovasc Surg (Torino) 1994 Jun;35(3):207-13. PMID: 8040168

Diagnosis

Resource utilisation in paediatric patients with secundum atrial septal defects.
Ziebell DS, Ghaleb S, Anderson J, Statile CJ
Cardiol Young 2020 Mar;30(3):383-387. Epub 2020 Feb 10 doi: 10.1017/S104795112000013X. PMID: 32036805
The importance of heart murmur in the neonatal period and justification of echocardiographic review.
Kardasevic M, Kardasevic A
Med Arch 2014 Aug;68(4):282-4. Epub 2014 Jul 31 doi: 10.5455/medarh.2014.68.282-284. PMID: 25568554Free PMC Article
Large thrombus at the site of primary sutured atrial septal defect associated with pulmonary embolism and treatment by thrombolysis.
Dinckal MH, Davutoglu V, Soydinc S, Akdemir I, Aksoy M
Echocardiography 2003 Aug;20(6):535-8. doi: 10.1046/j.1540-8175.2003.03091.x. PMID: 12859367
Growth of an atrial septal defect: missing the window for transcatheter closure.
Tortoriello TA, McMahon C, Kovalchin JP, Bricker JT, Grifka RG
Pediatr Cardiol 2002 Sep-Oct;23(5):542-4. doi: 10.1007/s00246-001-0068-1. PMID: 12189410
Aortopulmonary septal defects. A review of the literature and report of ten cases.
Bertolini A, Dalmonte P, Bava GL, Moretti R, Cervo G, Marasini M
J Cardiovasc Surg (Torino) 1994 Jun;35(3):207-13. PMID: 8040168

Therapy

Conscious cardiac surgery with cardiopulmonary bypass using thoracic epidural anesthesia without endotracheal general anesthesia.
Chakravarthy M, Jawali V, Patil TA, Jayaprakash K, Kolar S, Joseph G, Das JK, Maheswari U, Sudhakar N
J Cardiothorac Vasc Anesth 2005 Jun;19(3):300-5. doi: 10.1053/j.jvca.2005.03.005. PMID: 16130054
Large thrombus at the site of primary sutured atrial septal defect associated with pulmonary embolism and treatment by thrombolysis.
Dinckal MH, Davutoglu V, Soydinc S, Akdemir I, Aksoy M
Echocardiography 2003 Aug;20(6):535-8. doi: 10.1046/j.1540-8175.2003.03091.x. PMID: 12859367

Prognosis

Clinical effects of major aortopulmonary collateral arteries in term neonates diagnosed with transposition of the great arteries.
Kamalı H, Tanıdır İC, Öztürk E, Paksoy S, Guzeltas A, Haydin S, Hatemi AC
Cardiol Young 2023 Nov;33(11):2363-2368. Epub 2023 Oct 13 doi: 10.1017/S1047951123003384. PMID: 37828857
Rheumatic valvulopathies occurence, pattern and follow-up in rural area: the experience of the Shisong Hospital, Cameroon.
Tantchou Tchoumi JC, Butera G
Bull Soc Pathol Exot 2009 Aug;102(3):155-8. PMID: 19739409
Growth of an atrial septal defect: missing the window for transcatheter closure.
Tortoriello TA, McMahon C, Kovalchin JP, Bricker JT, Grifka RG
Pediatr Cardiol 2002 Sep-Oct;23(5):542-4. doi: 10.1007/s00246-001-0068-1. PMID: 12189410
Aortopulmonary septal defects. A review of the literature and report of ten cases.
Bertolini A, Dalmonte P, Bava GL, Moretti R, Cervo G, Marasini M
J Cardiovasc Surg (Torino) 1994 Jun;35(3):207-13. PMID: 8040168
Predictive factors for spontaneous closure of atrial septal defects diagnosed in the first 3 months of life.
Radzik D, Davignon A, van Doesburg N, Fournier A, Marchand T, Ducharme G
J Am Coll Cardiol 1993 Sep;22(3):851-3. doi: 10.1016/0735-1097(93)90202-c. PMID: 8354823

Clinical prediction guides

Clinical effects of major aortopulmonary collateral arteries in term neonates diagnosed with transposition of the great arteries.
Kamalı H, Tanıdır İC, Öztürk E, Paksoy S, Guzeltas A, Haydin S, Hatemi AC
Cardiol Young 2023 Nov;33(11):2363-2368. Epub 2023 Oct 13 doi: 10.1017/S1047951123003384. PMID: 37828857
Rheumatic valvulopathies occurence, pattern and follow-up in rural area: the experience of the Shisong Hospital, Cameroon.
Tantchou Tchoumi JC, Butera G
Bull Soc Pathol Exot 2009 Aug;102(3):155-8. PMID: 19739409
Predictive factors for spontaneous closure of atrial septal defects diagnosed in the first 3 months of life.
Radzik D, Davignon A, van Doesburg N, Fournier A, Marchand T, Ducharme G
J Am Coll Cardiol 1993 Sep;22(3):851-3. doi: 10.1016/0735-1097(93)90202-c. PMID: 8354823

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