Etiology
Fiot E,
Alauze B,
Donadille B,
Samara-Boustani D,
Houang M,
De Filippo G,
Bachelot A,
Delcour C,
Beyler C,
Bois E,
Bourrat E,
Bui Quoc E,
Bourcigaux N,
Chaussain C,
Cohen A,
Cohen-Solal M,
Da Costa S,
Dossier C,
Ederhy S,
Elmaleh M,
Iserin L,
Lengliné H,
Poujol-Robert A,
Roulot D,
Viala J,
Albarel F,
Bismuth E,
Bernard V,
Bouvattier C,
Brac A,
Bretones P,
Chabbert-Buffet N,
Chanson P,
Coutant R,
de Warren M,
Demaret B,
Duranteau L,
Eustache F,
Gautheret L,
Gelwane G,
Gourbesville C,
Grynberg M,
Gueniche K,
Jorgensen C,
Kerlan V,
Lebrun C,
Lefevre C,
Lorenzini F,
Manouvrier S,
Pienkowski C,
Reynaud R,
Reznik Y,
Siffroi JP,
Tabet AC,
Tauber M,
Vautier V,
Tauveron I,
Wambre S,
Zenaty D,
Netchine I,
Polak M,
Touraine P,
Carel JC,
Christin-Maitre S,
Léger J
Orphanet J Rare Dis
2022 Jul 12;17(Suppl 1):261.
doi: 10.1186/s13023-022-02423-5.
PMID: 35821070Free 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
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
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
Digilio MC,
Dallapiccola B
Orphanet J Rare Dis
2010 Sep 29;5:25.
doi: 10.1186/1750-1172-5-25.
PMID: 20920258Free PMC Article
Diagnosis
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
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
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
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
Solomon BD
Orphanet J Rare Dis
2011 Aug 16;6:56.
doi: 10.1186/1750-1172-6-56.
PMID: 21846383Free PMC Article
Therapy
Krahn AD,
Laksman Z,
Sy RW,
Postema PG,
Ackerman MJ,
Wilde AAM,
Han HC
JACC Clin Electrophysiol
2022 May;8(5):687-706.
doi: 10.1016/j.jacep.2022.02.017.
PMID: 35589186
Al Shaikh A,
Daftardar H,
Alghamdi AA,
Jamjoom M,
Awidah S,
Ahmed ME,
Soliman AT
Acta Biomed
2020 Mar 19;91(1):29-40.
doi: 10.23750/abm.v91i1.9182.
PMID: 32191651Free PMC Article
Hefti E,
Blanco JG
Pharmacotherapy
2017 Feb;37(2):214-220.
Epub 2017 Jan 13
doi: 10.1002/phar.1880.
PMID: 27931082Free PMC Article
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
Gomel V
Can Med Assoc J
1974 Jul 20;111(2):167-9.
PMID: 4276392Free PMC Article
Prognosis
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
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
Braverman AC,
Mittauer E,
Harris KM,
Evangelista A,
Pyeritz RE,
Brinster D,
Conklin L,
Suzuki T,
Fanola C,
Ouzounian M,
Chen E,
Myrmel T,
Bekeredjian R,
Hutchison S,
Coselli J,
Gilon D,
O'Gara P,
Davis M,
Isselbacher E,
Eagle K
JAMA Cardiol
2021 Jan 1;6(1):58-66.
doi: 10.1001/jamacardio.2020.4876.
PMID: 33052376Free PMC Article
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
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
Fiot E,
Alauze B,
Donadille B,
Samara-Boustani D,
Houang M,
De Filippo G,
Bachelot A,
Delcour C,
Beyler C,
Bois E,
Bourrat E,
Bui Quoc E,
Bourcigaux N,
Chaussain C,
Cohen A,
Cohen-Solal M,
Da Costa S,
Dossier C,
Ederhy S,
Elmaleh M,
Iserin L,
Lengliné H,
Poujol-Robert A,
Roulot D,
Viala J,
Albarel F,
Bismuth E,
Bernard V,
Bouvattier C,
Brac A,
Bretones P,
Chabbert-Buffet N,
Chanson P,
Coutant R,
de Warren M,
Demaret B,
Duranteau L,
Eustache F,
Gautheret L,
Gelwane G,
Gourbesville C,
Grynberg M,
Gueniche K,
Jorgensen C,
Kerlan V,
Lebrun C,
Lefevre C,
Lorenzini F,
Manouvrier S,
Pienkowski C,
Reynaud R,
Reznik Y,
Siffroi JP,
Tabet AC,
Tauber M,
Vautier V,
Tauveron I,
Wambre S,
Zenaty D,
Netchine I,
Polak M,
Touraine P,
Carel JC,
Christin-Maitre S,
Léger J
Orphanet J Rare Dis
2022 Jul 12;17(Suppl 1):261.
doi: 10.1186/s13023-022-02423-5.
PMID: 35821070Free 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
Piché J,
Van Vliet PP,
Pucéat M,
Andelfinger G
Cell Cycle
2019 Nov;18(21):2828-2848.
Epub 2019 Sep 13
doi: 10.1080/15384101.2019.1658476.
PMID: 31516082Free PMC Article
Hershberger RE,
Hedges DJ,
Morales A
Nat Rev Cardiol
2013 Sep;10(9):531-47.
Epub 2013 Jul 30
doi: 10.1038/nrcardio.2013.105.
PMID: 23900355