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Genetic Syndrome Associated with Congenital Heart Defect

MedGen UID:
1714915
Concept ID:
C5238705
Disease or Syndrome

Definition

Genetic anomalies and collections of malformations that are known to cluster together that can be associated with congenital heart defects. (ACC-AHA) [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGenetic Syndrome Associated with Congenital Heart Defect

Professional guidelines

PubMed

Isselbacher EM, Preventza O, Hamilton Black J 3rd, Augoustides JG, Beck AW, Bolen MA, Braverman AC, Bray BE, Brown-Zimmerman MM, Chen EP, Collins TJ, DeAnda A Jr, Fanola CL, Girardi LN, Hicks CW, Hui DS, Schuyler Jones W, Kalahasti V, Kim KM, Milewicz DM, Oderich GS, Ogbechie L, Promes SB, Gyang Ross E, Schermerhorn ML, Singleton Times S, Tseng EE, Wang GJ, Woo YJ; Peer Review Committee Members
Circulation 2022 Dec 13;146(24):e334-e482. Epub 2022 Nov 2 doi: 10.1161/CIR.0000000000001106. PMID: 36322642Free PMC Article
Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH
Nat Rev Endocrinol 2019 Oct;15(10):601-614. Epub 2019 Jun 18 doi: 10.1038/s41574-019-0224-4. PMID: 31213699
Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA, Rubin K, Sandberg DE, Sas TCJ, Silberbach M, Söderström-Anttila V, Stochholm K, van Alfen-van derVelden JA, Woelfle J, Backeljauw PF; International Turner Syndrome Consensus Group
Eur J Endocrinol 2017 Sep;177(3):G1-G70. doi: 10.1530/EJE-17-0430. PMID: 28705803

Recent clinical studies

Etiology

Handa A, Tsujioka Y, Nishimura G, Nozaki T, Kono T, Jinzaki M, Harms T, Connolly SA, Sato TS, Sato Y
Radiographics 2024 May;44(5):e230153. doi: 10.1148/rg.230153. PMID: 38602868
Yoon SH, Kim GY, Choi GT, Do JT
Cells 2023 May 11;12(10) doi: 10.3390/cells12101365. PMID: 37408200Free PMC Article
Marino BS, Lipkin PH, Newburger JW, Peacock G, Gerdes M, Gaynor JW, Mussatto KA, Uzark K, Goldberg CS, Johnson WH Jr, Li J, Smith SE, Bellinger DC, Mahle WT; American Heart Association Congenital Heart Defects Committee, Council on Cardiovascular Disease in the Young, Council on Cardiovascular Nursing, and Stroke Council
Circulation 2012 Aug 28;126(9):1143-72. Epub 2012 Jul 30 doi: 10.1161/CIR.0b013e318265ee8a. PMID: 22851541
Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. PMID: 20920258Free PMC Article
Bondy CA
Horm Res 2009 Jan;71 Suppl 1:52-6. Epub 2009 Jan 21 doi: 10.1159/000178039. PMID: 19153507

Diagnosis

Delogu AB, Limongelli G, Versacci P, Adorisio R, Kaski JP, Blandino R, Maiolo S, Monda E, Putotto C, De Rosa G, Chatfield KC, Gelb BD, Calcagni G
Am J Med Genet C Semin Med Genet 2022 Dec;190(4):440-451. Epub 2022 Nov 21 doi: 10.1002/ajmg.c.32014. PMID: 36408797
Kepple JW, Fishler KP, Peeples ES
Am J Med Genet A 2021 Apr;185(4):1294-1303. Epub 2021 Feb 2 doi: 10.1002/ajmg.a.62097. PMID: 33527722
Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH
Nat Rev Endocrinol 2019 Oct;15(10):601-614. Epub 2019 Jun 18 doi: 10.1038/s41574-019-0224-4. PMID: 31213699
Pierpont ME, Brueckner M, Chung WK, Garg V, Lacro RV, McGuire AL, Mital S, Priest JR, Pu WT, Roberts A, Ware SM, Gelb BD, Russell MW; American Heart Association Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; and Council on Genomic and Precision Medicine
Circulation 2018 Nov 20;138(21):e653-e711. doi: 10.1161/CIR.0000000000000606. PMID: 30571578Free PMC Article
Marino BS, Lipkin PH, Newburger JW, Peacock G, Gerdes M, Gaynor JW, Mussatto KA, Uzark K, Goldberg CS, Johnson WH Jr, Li J, Smith SE, Bellinger DC, Mahle WT; American Heart Association Congenital Heart Defects Committee, Council on Cardiovascular Disease in the Young, Council on Cardiovascular Nursing, and Stroke Council
Circulation 2012 Aug 28;126(9):1143-72. Epub 2012 Jul 30 doi: 10.1161/CIR.0b013e318265ee8a. PMID: 22851541

Therapy

Viuff M, Gravholt CH
Ann Endocrinol (Paris) 2022 Aug;83(4):244-249. Epub 2022 Jun 18 doi: 10.1016/j.ando.2022.06.001. PMID: 35728697
Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH
Nat Rev Endocrinol 2019 Oct;15(10):601-614. Epub 2019 Jun 18 doi: 10.1038/s41574-019-0224-4. PMID: 31213699
Towbin JA, Lorts A, Jefferies JL
Lancet 2015 Aug 22;386(9995):813-25. Epub 2015 Apr 9 doi: 10.1016/S0140-6736(14)61282-4. PMID: 25865865
Kesler SR
Child Adolesc Psychiatr Clin N Am 2007 Jul;16(3):709-22. doi: 10.1016/j.chc.2007.02.004. PMID: 17562588Free PMC Article
Judge DP, Dietz HC
Lancet 2005 Dec 3;366(9501):1965-76. doi: 10.1016/S0140-6736(05)67789-6. PMID: 16325700Free PMC Article

Prognosis

Delogu AB, Limongelli G, Versacci P, Adorisio R, Kaski JP, Blandino R, Maiolo S, Monda E, Putotto C, De Rosa G, Chatfield KC, Gelb BD, Calcagni G
Am J Med Genet C Semin Med Genet 2022 Dec;190(4):440-451. Epub 2022 Nov 21 doi: 10.1002/ajmg.c.32014. PMID: 36408797
Pirruccello JP, Di Achille P, Nauffal V, Nekoui M, Friedman SF, Klarqvist MDR, Chaffin MD, Weng LC, Cunningham JW, Khurshid S, Roselli C, Lin H, Koyama S, Ito K, Kamatani Y, Komuro I; BioBank Japan Project, Jurgens SJ, Benjamin EJ, Batra P, Natarajan P, Ng K, Hoffmann U, Lubitz SA, Ho JE, Lindsay ME, Philippakis AA, Ellinor PT
Nat Genet 2022 Jun;54(6):792-803. Epub 2022 Jun 13 doi: 10.1038/s41588-022-01090-3. PMID: 35697867Free PMC Article
Society for Maternal-Fetal Medicine (SMFM), Monteagudo A
Am J Obstet Gynecol 2020 Dec;223(6):B38-B41. Epub 2020 Nov 7 doi: 10.1016/j.ajog.2020.08.184. PMID: 33168220
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
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free PMC Article

Clinical prediction guides

Yoon SH, Kim GY, Choi GT, Do JT
Cells 2023 May 11;12(10) doi: 10.3390/cells12101365. PMID: 37408200Free PMC Article
Petersen SE, Jensen B, Aung N, Friedrich MG, McMahon CJ, Mohiddin SA, Pignatelli RH, Ricci F, Anderson RH, Bluemke DA
JACC Cardiovasc Imaging 2023 Mar;16(3):408-425. Epub 2023 Feb 8 doi: 10.1016/j.jcmg.2022.12.026. PMID: 36764891Free PMC Article
Hill MC, Kadow ZA, Long H, Morikawa Y, Martin TJ, Birks EJ, Campbell KS, Nerbonne J, Lavine K, Wadhwa L, Wang J, Turaga D, Adachi I, Martin JF
Nature 2022 Aug;608(7921):181-191. Epub 2022 Jun 22 doi: 10.1038/s41586-022-04989-3. PMID: 35732239Free PMC Article
Pirruccello JP, Di Achille P, Nauffal V, Nekoui M, Friedman SF, Klarqvist MDR, Chaffin MD, Weng LC, Cunningham JW, Khurshid S, Roselli C, Lin H, Koyama S, Ito K, Kamatani Y, Komuro I; BioBank Japan Project, Jurgens SJ, Benjamin EJ, Batra P, Natarajan P, Ng K, Hoffmann U, Lubitz SA, Ho JE, Lindsay ME, Philippakis AA, Ellinor PT
Nat Genet 2022 Jun;54(6):792-803. Epub 2022 Jun 13 doi: 10.1038/s41588-022-01090-3. PMID: 35697867Free PMC Article
Athota JP, Bhat M, Nampoothiri S, Gowrishankar K, Narayanachar SG, Puttamallesh V, Farooque MO, Shetty S
BMC Med Genet 2020 Mar 12;21(1):50. doi: 10.1186/s12881-020-0986-5. PMID: 32164556Free PMC Article

Recent systematic reviews

Boot E, Óskarsdóttir S, Loo JCY, Crowley TB, Orchanian-Cheff A, Andrade DM, Arganbright JM, Castelein RM, Cserti-Gazdewich C, de Reuver S, Fiksinski AM, Klingberg G, Lang AE, Mascarenhas MR, Moss EM, Nowakowska BA, Oechslin E, Palmer L, Repetto GM, Reyes NGD, Schneider M, Silversides C, Sullivan KE, Swillen A, van Amelsvoort TAMJ, Van Batavia JP, Vingerhoets C, McDonald-McGinn DM, Bassett AS
Genet Med 2023 Mar;25(3):100344. Epub 2023 Feb 2 doi: 10.1016/j.gim.2022.11.012. PMID: 36729052
Adler A, Novelli V, Amin AS, Abiusi E, Care M, Nannenberg EA, Feilotter H, Amenta S, Mazza D, Bikker H, Sturm AC, Garcia J, Ackerman MJ, Hershberger RE, Perez MV, Zareba W, Ware JS, Wilde AAM, Gollob MH
Circulation 2020 Feb 11;141(6):418-428. Epub 2020 Jan 27 doi: 10.1161/CIRCULATIONAHA.119.043132. PMID: 31983240Free PMC Article
Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA, Rubin K, Sandberg DE, Sas TCJ, Silberbach M, Söderström-Anttila V, Stochholm K, van Alfen-van derVelden JA, Woelfle J, Backeljauw PF; International Turner Syndrome Consensus Group
Eur J Endocrinol 2017 Sep;177(3):G1-G70. doi: 10.1530/EJE-17-0430. PMID: 28705803
Vandael E, Vandenberk B, Vandenberghe J, Willems R, Foulon V
Int J Clin Pharm 2017 Feb;39(1):16-25. Epub 2016 Dec 23 doi: 10.1007/s11096-016-0414-2. PMID: 28012118
Caro M, Conde D, Pérez-Riera AR, de Almeida AP, Baranchuk A
Cardiol Young 2015 Jan;25(1):8-14. Epub 2014 Apr 2 doi: 10.1017/S1047951114000420. PMID: 24690318

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