Etiology
Tsatsopoulou A,
Protonotarios I,
Xylouri Z,
Papagiannis I,
Anastasakis A,
Germanakis I,
Patrianakos A,
Nyktari E,
Gavras C,
Papadopoulos G,
Meditskou S,
Lazarou E,
Miliou A,
Lazaros G
Hellenic J Cardiol
2023 Jul-Aug;72:43-56.
Epub 2023 Mar 3
doi: 10.1016/j.hjc.2023.02.007.
PMID: 36870438
Rego S,
Dagan-Rosenfeld O,
Zhou W,
Sailani MR,
Limcaoco P,
Colbert E,
Avina M,
Wheeler J,
Craig C,
Salins D,
Röst HL,
Dunn J,
McLaughlin T,
Steinmetz LM,
Bernstein JA,
Snyder MP
Cold Spring Harb Mol Case Stud
2018 Dec;4(6)
Epub 2018 Dec 17
doi: 10.1101/mcs.a003178.
PMID: 30487145Free PMC Article
Pilichou K,
Thiene G,
Bauce B,
Rigato I,
Lazzarini E,
Migliore F,
Perazzolo Marra M,
Rizzo S,
Zorzi A,
Daliento L,
Corrado D,
Basso C
Orphanet J Rare Dis
2016 Apr 2;11:33.
doi: 10.1186/s13023-016-0407-1.
PMID: 27038780Free PMC Article
Marshall JD,
Beck S,
Maffei P,
Naggert JK
Eur J Hum Genet
2007 Dec;15(12):1193-202.
Epub 2007 Oct 17
doi: 10.1038/sj.ejhg.5201933.
PMID: 17940554
Ikeda Y,
Ross J Jr
Curr Opin Cardiol
2000 May;15(3):197-201.
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PMID: 10952428
Diagnosis
Tsatsopoulou A,
Protonotarios I,
Xylouri Z,
Papagiannis I,
Anastasakis A,
Germanakis I,
Patrianakos A,
Nyktari E,
Gavras C,
Papadopoulos G,
Meditskou S,
Lazarou E,
Miliou A,
Lazaros G
Hellenic J Cardiol
2023 Jul-Aug;72:43-56.
Epub 2023 Mar 3
doi: 10.1016/j.hjc.2023.02.007.
PMID: 36870438
Bagnall RD,
Singer ES,
Wacker J,
Nowak N,
Ingles J,
King I,
Macciocca I,
Crowe J,
Ronan A,
Weintraub RG,
Semsarian C
Circ Genom Precis Med
2022 Dec;15(6):e003686.
Epub 2022 Oct 11
doi: 10.1161/CIRCGEN.121.003686.
PMID: 36252119
Tsang SH,
Aycinena ARP,
Sharma T
Adv Exp Med Biol
2018;1085:179-180.
doi: 10.1007/978-3-319-95046-4_35.
PMID: 30578508
Pilichou K,
Thiene G,
Bauce B,
Rigato I,
Lazzarini E,
Migliore F,
Perazzolo Marra M,
Rizzo S,
Zorzi A,
Daliento L,
Corrado D,
Basso C
Orphanet J Rare Dis
2016 Apr 2;11:33.
doi: 10.1186/s13023-016-0407-1.
PMID: 27038780Free PMC Article
McMinn TR Jr,
Ross J Jr
Clin Cardiol
1995 Jan;18(1):7-15.
doi: 10.1002/clc.4960180105.
PMID: 7704989
Therapy
Haddad CN,
Ali S,
Stephanou D,
Assakura MS,
Sahagian L,
Trogkanis E
Hellenic J Cardiol
2023 Nov-Dec;74:58-64.
Epub 2023 Jul 3
doi: 10.1016/j.hjc.2023.06.007.
PMID: 37406964
Iuso A,
Wiersma M,
Schüller HJ,
Pode-Shakked B,
Marek-Yagel D,
Grigat M,
Schwarzmayr T,
Berutti R,
Alhaddad B,
Kanon B,
Grzeschik NA,
Okun JG,
Perles Z,
Salem Y,
Barel O,
Vardi A,
Rubinshtein M,
Tirosh T,
Dubnov-Raz G,
Messias AC,
Terrile C,
Barshack I,
Volkov A,
Avivi C,
Eyal E,
Mastantuono E,
Kumbar M,
Abudi S,
Braunisch M,
Strom TM,
Meitinger T,
Hoffmann GF,
Prokisch H,
Haack TB,
Brundel BJJM,
Haas D,
Sibon OCM,
Anikster Y
Am J Hum Genet
2018 Jun 7;102(6):1018-1030.
Epub 2018 May 10
doi: 10.1016/j.ajhg.2018.03.022.
PMID: 29754768Free PMC Article
Mavrogeni SI,
Markousis-Mavrogenis G,
Papavasiliou A,
Papadopoulos G,
Kolovou G
Methods Mol Biol
2018;1687:31-42.
doi: 10.1007/978-1-4939-7374-3_3.
PMID: 29067654
Barp A,
Bello L,
Politano L,
Melacini P,
Calore C,
Polo A,
Vianello S,
Sorarù G,
Semplicini C,
Pantic B,
Taglia A,
Picillo E,
Magri F,
Gorni K,
Messina S,
Vita GL,
Vita G,
Comi GP,
Ermani M,
Calvo V,
Angelini C,
Hoffman EP,
Pegoraro E
PLoS One
2015;10(10):e0141240.
Epub 2015 Oct 29
doi: 10.1371/journal.pone.0141240.
PMID: 26513582Free PMC Article
Tegtmeyer LC,
Rust S,
van Scherpenzeel M,
Ng BG,
Losfeld ME,
Timal S,
Raymond K,
He P,
Ichikawa M,
Veltman J,
Huijben K,
Shin YS,
Sharma V,
Adamowicz M,
Lammens M,
Reunert J,
Witten A,
Schrapers E,
Matthijs G,
Jaeken J,
Rymen D,
Stojkovic T,
Laforêt P,
Petit F,
Aumaître O,
Czarnowska E,
Piraud M,
Podskarbi T,
Stanley CA,
Matalon R,
Burda P,
Seyyedi S,
Debus V,
Socha P,
Sykut-Cegielska J,
van Spronsen F,
de Meirleir L,
Vajro P,
DeClue T,
Ficicioglu C,
Wada Y,
Wevers RA,
Vanderschaeghe D,
Callewaert N,
Fingerhut R,
van Schaftingen E,
Freeze HH,
Morava E,
Lefeber DJ,
Marquardt T
N Engl J Med
2014 Feb 6;370(6):533-42.
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PMID: 24499211Free PMC Article
Prognosis
Maurer C,
Boleti O,
Najarzadeh Torbati P,
Norouzi F,
Fowler ANR,
Minaee S,
Salih KH,
Taherpour M,
Birjandi H,
Alizadeh B,
Salih AF,
Bijari M,
Houlden H,
Pittman AM,
Maroofian R,
Almashham YH,
Karimiani EG,
Kaski JP,
Faqeih EA,
Vakilian F,
Jamshidi Y
Genes (Basel)
2023 Jan 10;14(1)
doi: 10.3390/genes14010182.
PMID: 36672924Free PMC Article
Bagnall RD,
Singer ES,
Wacker J,
Nowak N,
Ingles J,
King I,
Macciocca I,
Crowe J,
Ronan A,
Weintraub RG,
Semsarian C
Circ Genom Precis Med
2022 Dec;15(6):e003686.
Epub 2022 Oct 11
doi: 10.1161/CIRCGEN.121.003686.
PMID: 36252119
Vasilescu C,
Ojala TH,
Brilhante V,
Ojanen S,
Hinterding HM,
Palin E,
Alastalo TP,
Koskenvuo J,
Hiippala A,
Jokinen E,
Jahnukainen T,
Lohi J,
Pihkala J,
Tyni TA,
Carroll CJ,
Suomalainen A
J Am Coll Cardiol
2018 Nov 6;72(19):2324-2338.
doi: 10.1016/j.jacc.2018.08.2171.
PMID: 30384889
Judge DP,
Johnson NM
J Cardiovasc Transl Res
2008 Jun;1(2):144-54.
Epub 2008 Apr 22
doi: 10.1007/s12265-008-9025-1.
PMID: 20559909
Marshall JD,
Beck S,
Maffei P,
Naggert JK
Eur J Hum Genet
2007 Dec;15(12):1193-202.
Epub 2007 Oct 17
doi: 10.1038/sj.ejhg.5201933.
PMID: 17940554
Clinical prediction guides
Maurer C,
Boleti O,
Najarzadeh Torbati P,
Norouzi F,
Fowler ANR,
Minaee S,
Salih KH,
Taherpour M,
Birjandi H,
Alizadeh B,
Salih AF,
Bijari M,
Houlden H,
Pittman AM,
Maroofian R,
Almashham YH,
Karimiani EG,
Kaski JP,
Faqeih EA,
Vakilian F,
Jamshidi Y
Genes (Basel)
2023 Jan 10;14(1)
doi: 10.3390/genes14010182.
PMID: 36672924Free PMC Article
Dedeoglu S,
Dede E,
Oztunc F,
Gedikbasi A,
Yesil G,
Dedeoglu R
Orphanet J Rare Dis
2022 Sep 15;17(1):359.
doi: 10.1186/s13023-022-02483-7.
PMID: 36109815Free PMC Article
Ichida F
J Cardiol
2020 Jan;75(1):1-9.
Epub 2019 Oct 17
doi: 10.1016/j.jjcc.2019.09.011.
PMID: 31629663
Judge DP,
Johnson NM
J Cardiovasc Transl Res
2008 Jun;1(2):144-54.
Epub 2008 Apr 22
doi: 10.1007/s12265-008-9025-1.
PMID: 20559909
Wehnert MS,
Bonne G
Semin Pediatr Neurol
2002 Jun;9(2):100-7.
doi: 10.1053/spen.2002.33806.
PMID: 12138994