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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).
Secundum atrial septal defect
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
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
Rigatelli G, Dell'Avvocata F, Giordan M, Viceconte N, Osanna RA, Braggion G, Aggio S, Cardaioli P, Chen JP
J Clin Ultrasound 2014 Nov-Dec;42(9):534-43. Epub 2014 Jun 4 doi: 10.1002/jcu.22177. PMID: 24898198
Agny M, Cobanoglu A
Ann Thorac Surg 1999 May;67(5):1412-4. doi: 10.1016/s0003-4975(99)00117-4. PMID: 10355422

Diagnosis

Maddali MM, Kandachar PS, Thomas E, Al-Maskari SN
J Cardiothorac Vasc Anesth 2021 Sep;35(9):2818-2822. Epub 2020 Dec 5 doi: 10.1053/j.jvca.2020.12.003. PMID: 33358739
Contractor T, Mandapati R
Card Electrophysiol Clin 2017 Jun;9(2):235-244. doi: 10.1016/j.ccep.2017.02.006. PMID: 28457238
Hara H, Virmani R, Ladich E, Mackey-Bojack S, Titus J, Reisman M, Gray W, Nakamura M, Mooney M, Poulose A, Schwartz RS
J Am Coll Cardiol 2005 Nov 1;46(9):1768-76. Epub 2005 Sep 29 doi: 10.1016/j.jacc.2005.08.038. PMID: 16256883
Sadeghi AM, Laks H, Pearl JM
Semin Thorac Cardiovasc Surg 1997 Jan;9(1):2-7. PMID: 9109219
deLeon AC Jr
Curr Probl Cardiol 1976 Dec;1(9):2-60. doi: 10.1016/0146-2806(76)90007-4. PMID: 797528

Therapy

Foreman K, Lyman E, Conroy S, Salavitabar A, Cua CL
Echocardiography 2024 Oct;41(10):e15951. doi: 10.1111/echo.15951. PMID: 39402996
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
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
Hou JW
Chang Gung Med J 2004 Sep;27(9):691-5. PMID: 15605910

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
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
Aggeli C, Tsiamis E, Tsioufis C
Int J Cardiovasc Imaging 2021 Sep;37(9):2617-2618. doi: 10.1007/s10554-021-02267-3. PMID: 33999350
Morgan CT, Gross G, Hickey E, Mertens L
Eur Heart J Cardiovasc Imaging 2017 Sep 1;18(9):1070. doi: 10.1093/ehjci/jex070. PMID: 28472468
Moodie DS
Curr Opin Cardiol 1994 Jan;9(1):137-42. doi: 10.1097/00001573-199401000-00017. PMID: 8199366

Clinical prediction guides

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
Aggeli C, Tsiamis E, Tsioufis C
Int J Cardiovasc Imaging 2021 Sep;37(9):2617-2618. doi: 10.1007/s10554-021-02267-3. PMID: 33999350
Adler E, Love B, Giovannone S, Volpicelli F, Goldman ME
Curr Cardiol Rep 2007 Mar;9(1):7-12. doi: 10.1007/s11886-007-0003-z. PMID: 17362678
Post MC, Luermans JG, Plokker HW, Budts W
Catheter Cardiovasc Interv 2007 Jan;69(1):9-14. doi: 10.1002/ccd.20931. PMID: 17143907
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

Recent systematic reviews

Polito MV, Ferraioli M, Nocilla A, Coppola G, D'Auria F, Marzano A, Barnabei L, Malinconico M, Bossone E, Ferrara F
Monaldi Arch Chest Dis 2023 Sep 6;94(3) doi: 10.4081/monaldi.2023.2661. PMID: 37675914
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
Mylonas KS, Ziogas IA, Evangeliou A, Hemmati P, Schizas D, Sfyridis PG, Economopoulos KP, Bakoyiannis C, Kapelouzou A, Tzifa A, Avgerinos DV
Pediatr Cardiol 2020 Jun;41(5):853-861. Epub 2020 Mar 11 doi: 10.1007/s00246-020-02341-y. PMID: 32162027
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
Alnasser S, Lee D, Austin PC, Labos C, Osten M, Lightfoot DT, Kutty S, Shah A, Meier L, Benson L, Horlick E
Int J Cardiol 2018 Nov 1;270:126-132. Epub 2018 Jul 12 doi: 10.1016/j.ijcard.2018.06.076. PMID: 30054146

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