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Atrial septal defect 2(ASD2)

MedGen UID:
334249
Concept ID:
C1842778
Congenital Abnormality; Disease or Syndrome
Synonym: ASD2
 
Gene (location): GATA4 (8p23.1)
 
Monarch Initiative: MONDO:0011938
OMIM®: 607941

Definition

Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA4 gene. [from MONDO]

Clinical features

From HPO
Aortic regurgitation
MedGen UID:
8153
Concept ID:
C0003504
Disease or Syndrome
An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.
Dextrocardia
MedGen UID:
4255
Concept ID:
C0011813
Congenital Abnormality
The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.
Patent ductus arteriosus
MedGen UID:
4415
Concept ID:
C0013274
Congenital Abnormality
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
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.
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Mitral regurgitation
MedGen UID:
7670
Concept ID:
C0026266
Disease or Syndrome
An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.
Atrioventricular canal defect
MedGen UID:
235591
Concept ID:
C1389016
Anatomical Abnormality
A defect of the atrioventricular septum of the heart.
Pulmonic stenosis
MedGen UID:
408291
Concept ID:
C1956257
Disease or Syndrome
A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).

Recent clinical studies

Etiology

Najm HK, Ahmad M, Salam Y, Klein J, Hasan SM, Majdalany D, Stewart RD, Pettersson G, Karamlou T
Ann Thorac Surg 2021 Jan;111(1):169-175. Epub 2020 Apr 24 doi: 10.1016/j.athoracsur.2020.03.063. PMID: 32339505
Knop MT, Białkowski J, Szkutnik M, Fiszer R, Smerdziński S, Gałeczka M, Litwin L
Kardiol Pol 2018;76(8):1257-1262. Epub 2018 Jun 4 doi: 10.5603/KP.a2018.0113. PMID: 29862489
Vyas-Read S, Kanaan U, Shankar P, Stremming J, Travers C, Carlton DP, Fitzpatrick A
BMC Pediatr 2017 Jul 11;17(1):163. doi: 10.1186/s12887-017-0910-0. PMID: 28697724Free PMC Article
Jentink J, Loane MA, Dolk H, Barisic I, Garne E, Morris JK, de Jong-van den Berg LT; EUROCAT Antiepileptic Study Working Group
N Engl J Med 2010 Jun 10;362(23):2185-93. doi: 10.1056/NEJMoa0907328. PMID: 20558369
Michel PL, Acar J
Eur Heart J 1995 Apr;16 Suppl B:2-6. doi: 10.1093/eurheartj/16.suppl_b.2. PMID: 7671919

Diagnosis

Taylor K, Lovelace C, Richards B, Tseng S, Ogunleye O, Cua CL
Pediatr Cardiol 2023 Oct;44(7):1514-1519. Epub 2023 Jun 23 doi: 10.1007/s00246-023-03183-0. PMID: 37351603
Supomo S, Arjana AZ, Darmawan H
Heart Surg Forum 2018 Mar 16;21(2):E108-E111. doi: 10.1532/hsf.1914. PMID: 29658869
Vyas-Read S, Kanaan U, Shankar P, Stremming J, Travers C, Carlton DP, Fitzpatrick A
BMC Pediatr 2017 Jul 11;17(1):163. doi: 10.1186/s12887-017-0910-0. PMID: 28697724Free PMC Article
Asif IM, Price DE, Ewing A, Rao AL, Harmon KG, Drezner JA
Br J Sports Med 2016 Feb;50(3):163-6. Epub 2015 Nov 26 doi: 10.1136/bjsports-2015-095560. PMID: 26612845
Bishnoi RN, Everett AD, Ringel RE, Owada CY, Holzer RJ, Chisolm JL, Radtke WA, Scott Lim D, Rhodes JF Jr, Coulson JD
Pediatr Cardiol 2014 Oct;35(7):1124-31. Epub 2014 Apr 11 doi: 10.1007/s00246-014-0905-7. PMID: 24723210

Therapy

Rashid H, Haq ZU, Alam S, Nazir M, Nadir M, Fakhar T, Zaidi SMJ, Mustafa B, Malik J
Expert Rev Cardiovasc Ther 2022 Dec;20(12):929-932. Epub 2022 Nov 27 doi: 10.1080/14779072.2022.2152328. PMID: 36421070
Yan C, Li S, Song H, Jin J, Zheng H, Wang C, Zhao S
J Thorac Cardiovasc Surg 2019 Apr;157(4):1603-1608. Epub 2018 Dec 12 doi: 10.1016/j.jtcvs.2018.11.093. PMID: 30712912
Knop MT, Białkowski J, Szkutnik M, Fiszer R, Smerdziński S, Gałeczka M, Litwin L
Kardiol Pol 2018;76(8):1257-1262. Epub 2018 Jun 4 doi: 10.5603/KP.a2018.0113. PMID: 29862489
Jentink J, Loane MA, Dolk H, Barisic I, Garne E, Morris JK, de Jong-van den Berg LT; EUROCAT Antiepileptic Study Working Group
N Engl J Med 2010 Jun 10;362(23):2185-93. doi: 10.1056/NEJMoa0907328. PMID: 20558369
Majdalany DS, Burkhart HM, Connolly HM, Abel MD, Dearani JA, Warnes CA, Schaff HV
Congenit Heart Dis 2010 Jan-Feb;5(1):38-43. doi: 10.1111/j.1747-0803.2009.00349.x. PMID: 20136856

Prognosis

Rashid H, Haq ZU, Alam S, Nazir M, Nadir M, Fakhar T, Zaidi SMJ, Mustafa B, Malik J
Expert Rev Cardiovasc Ther 2022 Dec;20(12):929-932. Epub 2022 Nov 27 doi: 10.1080/14779072.2022.2152328. PMID: 36421070
Li W, Ma L, Xia S, Zou M, Chen W, Chen X
J Cardiothorac Surg 2021 Apr 13;16(1):80. doi: 10.1186/s13019-021-01481-3. PMID: 33849614Free PMC Article
Knop MT, Białkowski J, Szkutnik M, Fiszer R, Smerdziński S, Gałeczka M, Litwin L
Kardiol Pol 2018;76(8):1257-1262. Epub 2018 Jun 4 doi: 10.5603/KP.a2018.0113. PMID: 29862489
Vyas-Read S, Kanaan U, Shankar P, Stremming J, Travers C, Carlton DP, Fitzpatrick A
BMC Pediatr 2017 Jul 11;17(1):163. doi: 10.1186/s12887-017-0910-0. PMID: 28697724Free PMC Article
Michel PL, Acar J
Eur Heart J 1995 Apr;16 Suppl B:2-6. doi: 10.1093/eurheartj/16.suppl_b.2. PMID: 7671919

Clinical prediction guides

Howley MM, Fisher SC, Van Zutphen AR, Papadopoulos EA, Patel J, Lin AE, Browne ML; National Birth Defects Prevention Study
Birth Defects Res 2023 Jan 15;115(2):133-144. Epub 2022 Aug 14 doi: 10.1002/bdr2.2074. PMID: 36458698
Rashid H, Haq ZU, Alam S, Nazir M, Nadir M, Fakhar T, Zaidi SMJ, Mustafa B, Malik J
Expert Rev Cardiovasc Ther 2022 Dec;20(12):929-932. Epub 2022 Nov 27 doi: 10.1080/14779072.2022.2152328. PMID: 36421070
Knop MT, Białkowski J, Szkutnik M, Fiszer R, Smerdziński S, Gałeczka M, Litwin L
Kardiol Pol 2018;76(8):1257-1262. Epub 2018 Jun 4 doi: 10.5603/KP.a2018.0113. PMID: 29862489
Supomo S, Arjana AZ, Darmawan H
Heart Surg Forum 2018 Mar 16;21(2):E108-E111. doi: 10.1532/hsf.1914. PMID: 29658869
Jentink J, Loane MA, Dolk H, Barisic I, Garne E, Morris JK, de Jong-van den Berg LT; EUROCAT Antiepileptic Study Working Group
N Engl J Med 2010 Jun 10;362(23):2185-93. doi: 10.1056/NEJMoa0907328. PMID: 20558369

Recent systematic reviews

Rashid H, Haq ZU, Alam S, Nazir M, Nadir M, Fakhar T, Zaidi SMJ, Mustafa B, Malik J
Expert Rev Cardiovasc Ther 2022 Dec;20(12):929-932. Epub 2022 Nov 27 doi: 10.1080/14779072.2022.2152328. PMID: 36421070

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