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Atrial septal defect 9(ASD9)

MedGen UID:
482573
Concept ID:
C3280943
Congenital Abnormality; Disease or Syndrome
Synonym: ASD9
 
Gene (location): GATA6 (18q11.2)
 
Monarch Initiative: MONDO:0013770
OMIM®: 614475

Definition

Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA6 gene. [from MONDO]

Clinical features

From HPO
Bicuspid aortic valve
MedGen UID:
57436
Concept ID:
C0149630
Congenital Abnormality
Aortic valve disease-2 (AOVD2) is characterized by bicuspid aortic valve (BAV) and dilation of the ascending aorta. Calcification of the valve and the aorta has been observed, and some patients exhibit coarctation of the aorta (Tan et al., 2012; Luyckx et al., 2019; Park et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of aortic valve disease, see AOVD1 (109730).
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.
Pulmonary arterial hypertension
MedGen UID:
425404
Concept ID:
C2973725
Disease or Syndrome
Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.

Professional guidelines

PubMed

Meberg A, Otterstad JE, Frøland G, Hals J, Sörland SJ
Cardiol Young 1999 Mar;9(2):169-74. doi: 10.1017/s1047951100008398. PMID: 10323515

Recent clinical studies

Etiology

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
Tanabe Y, Suzuki T, Kuwata S, Izumo M, Kawaguchi H, Ogoda S, Kotoku N, Sato Y, Nishikawa H, Kaihara T, Koga M, Mitarai T, Okuyama K, Kamijima R, Ishibashi Y, Yoneyama K, Higuma T, Harada T, Akashi YJ
J Am Heart Assoc 2021 Sep 21;10(18):e019282. Epub 2021 Sep 17 doi: 10.1161/JAHA.120.019282. PMID: 34533044Free PMC Article
Dolgner SJ, Steinberg ZL, Jones TK, Reisman M, Buber J
Heart 2021 Dec;107(23):1875-1880. Epub 2021 Aug 11 doi: 10.1136/heartjnl-2021-319050. PMID: 34380660
Alstrup M, Karunanithi Z, Maagaard MØ, Poulsen SH, Hjortdal VE
Eur J Cardiothorac Surg 2021 Dec 27;61(1):83-89. doi: 10.1093/ejcts/ezab235. PMID: 34015096Free PMC Article
Abrahamyan L, Dharma C, Alnasser S, Fang J, Austin PC, Lee DS, Osten M, Horlick EM
JACC Cardiovasc Interv 2021 Mar 8;14(5):566-575. Epub 2021 Mar 1 doi: 10.1016/j.jcin.2020.12.029. PMID: 33663785

Diagnosis

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
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
Dolgner SJ, Steinberg ZL, Jones TK, Reisman M, Buber J
Heart 2021 Dec;107(23):1875-1880. Epub 2021 Aug 11 doi: 10.1136/heartjnl-2021-319050. PMID: 34380660
Contractor T, Mandapati R
Card Electrophysiol Clin 2017 Jun;9(2):235-244. doi: 10.1016/j.ccep.2017.02.006. PMID: 28457238
Sadeghi AM, Laks H, Pearl JM
Semin Thorac Cardiovasc Surg 1997 Jan;9(1):2-7. PMID: 9109219

Therapy

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
Callahan CP, Jegatheeswaran A, Barron DJ, Husain SA, Fuller S, Overman DM, McCrindle BW; Congenital Heart Surgeons' Society Atrioventricular Septal Defect Working Group
J Thorac Cardiovasc Surg 2022 Mar;163(3):1142-1152.e6. Epub 2021 Sep 8 doi: 10.1016/j.jtcvs.2021.06.067. PMID: 34627603
Mojadidi MK, Zaman MO, Elgendy IY, Mahmoud AN, Patel NK, Agarwal N, Tobis JM, Meier B
J Am Coll Cardiol 2018 Mar 6;71(9):1035-1043. doi: 10.1016/j.jacc.2017.12.059. PMID: 29495983
Saver JL, Carroll JD, Thaler DE, Smalling RW, MacDonald LA, Marks DS, Tirschwell DL; RESPECT Investigators
N Engl J Med 2017 Sep 14;377(11):1022-1032. doi: 10.1056/NEJMoa1610057. PMID: 28902590
Stortecky S, da Costa BR, Mattle HP, Carroll J, Hornung M, Sievert H, Trelle S, Windecker S, Meier B, Jüni P
Eur Heart J 2015 Jan 7;36(2):120-8. Epub 2014 Aug 11 doi: 10.1093/eurheartj/ehu292. PMID: 25112661

Prognosis

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
Bashir F, Hameed M, Hanif B, Aijaz S
J Pak Med Assoc 2022 Feb;72(2):385-389. doi: 10.47391/JPMA.106. PMID: 35320204
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
Dolgner SJ, Steinberg ZL, Jones TK, Reisman M, Buber J
Heart 2021 Dec;107(23):1875-1880. Epub 2021 Aug 11 doi: 10.1136/heartjnl-2021-319050. PMID: 34380660
Alstrup M, Karunanithi Z, Maagaard MØ, Poulsen SH, Hjortdal VE
Eur J Cardiothorac Surg 2021 Dec 27;61(1):83-89. doi: 10.1093/ejcts/ezab235. PMID: 34015096Free PMC Article

Clinical prediction guides

Bashir F, Hameed M, Hanif B, Aijaz S
J Pak Med Assoc 2022 Feb;72(2):385-389. doi: 10.47391/JPMA.106. PMID: 35320204
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
Callahan CP, Jegatheeswaran A, Barron DJ, Husain SA, Fuller S, Overman DM, McCrindle BW; Congenital Heart Surgeons' Society Atrioventricular Septal Defect Working Group
J Thorac Cardiovasc Surg 2022 Mar;163(3):1142-1152.e6. Epub 2021 Sep 8 doi: 10.1016/j.jtcvs.2021.06.067. PMID: 34627603
Tanabe Y, Suzuki T, Kuwata S, Izumo M, Kawaguchi H, Ogoda S, Kotoku N, Sato Y, Nishikawa H, Kaihara T, Koga M, Mitarai T, Okuyama K, Kamijima R, Ishibashi Y, Yoneyama K, Higuma T, Harada T, Akashi YJ
J Am Heart Assoc 2021 Sep 21;10(18):e019282. Epub 2021 Sep 17 doi: 10.1161/JAHA.120.019282. PMID: 34533044Free PMC Article
Dolgner SJ, Steinberg ZL, Jones TK, Reisman M, Buber J
Heart 2021 Dec;107(23):1875-1880. Epub 2021 Aug 11 doi: 10.1136/heartjnl-2021-319050. PMID: 34380660

Recent systematic reviews

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
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
Gao SY, Wu QJ, Sun C, Zhang TN, Shen ZQ, Liu CX, Gong TT, Xu X, Ji C, Huang DH, Chang Q, Zhao YH
BMC Med 2018 Nov 12;16(1):205. doi: 10.1186/s12916-018-1193-5. PMID: 30415641Free PMC Article
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
Davis D, Gregson J, Willeit P, Stephan B, Al-Shahi Salman R, Brayne C
Neuroepidemiology 2013;40(1):56-67. Epub 2012 Oct 11 doi: 10.1159/000341924. PMID: 23075508Free PMC Article

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