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Jenni R, Oechslin E, Schneider J, Attenhofer Jost C, Kaufmann PA. Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: A step towards classification as a distinct cardiomyopathy. <i>Heart<\/i> 2001; 86: 666\u2013671.","DOI":"10.1136\/heart.86.6.666"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Brescia ST, Rossano JW, Pignatelli R, Jefferies JL, Price JF, Decker JA, et al. Mortality and sudden death in pediatric left ventricular noncompaction in a tertiary referral center. <i>Circulation<\/i> 2013; 127: 2202\u20132208.","DOI":"10.1161\/CIRCULATIONAHA.113.002511"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Finsterer J. Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation\/noncompaction. <i>Pediatr Cardiol<\/i> 2009; 30: 659\u2013681.","DOI":"10.1007\/s00246-008-9359-0"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Miller EM, Hinton RB, Czosek R, Lorts A, Parrott A, Shikany AR, et al. Genetic testing in pediatric left ventricular noncompaction. <i>Circ Cardiovasc Genet<\/i> 2017; 10: e001735.","DOI":"10.1161\/CIRCGENETICS.117.001735"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Priori SG, Napolitano C, Memmi M, Colombi B, Drago F, Gasparini M, et al. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. <i>Circulation<\/i> 2002; 106: 69\u201374.","DOI":"10.1161\/01.CIR.0000020013.73106.D8"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Fujii Y, Itoh H, Ohno S, Murayama T, Kurebayashi N, Aoki H, et al. A type 2 ryanodine receptor variant associated with reduced Ca<sup>2+<\/sup> release and short-coupled torsades de pointes ventricular arrhythmia. <i>Heart Rhythm<\/i> 2017; 14: 98\u2013107.","DOI":"10.1016\/j.hrthm.2016.10.015"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Tiso N, Stephan DA, Nava A, Bagattin A, Devaney JM, Stanchi F, et al. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). <i>Hum Mol Genet<\/i> 2001; 10: 189\u2013194.","DOI":"10.1093\/hmg\/10.3.189"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Bhuiyan ZA, van den Berg MP, van Tintelen JP, Bink-Boelkens MT, Wiesfeld AC, Alders M, et al. Expanding spectrum of human <i>RYR2<\/i>-related disease: New electrocardiographic, structural, and genetic features. <i>Circulation<\/i> 2007; 116: 1569\u20131576.","DOI":"10.1161\/CIRCULATIONAHA.107.711606"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Tang Y, Tian X, Wang R, Fill M, Chen SR. Abnormal termination of Ca<sup>2+<\/sup> release is a common defect of <i>RyR2<\/i> mutations associated with cardiomyopathies. <i>Circ Res<\/i> 2012; 110: 968\u2013977.","DOI":"10.1161\/CIRCRESAHA.111.256560"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Szentpali Z, Szili-Torok T, Caliskan K. Primary electrical disorder or primary cardiomyopathy? A case with a unique association of noncompaction cardiomyopathy and catecholaminergic polymorphic ventricular tachycardia caused by ryanodine receptor mutation. <i>Circulation<\/i> 2013; 127: 1165\u20131166.","DOI":"10.1161\/CIRCULATIONAHA.112.144949"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Ohno S, Omura M, Kawamura M, Kimura H, Itoh H, Makiyama T, et al. Exon 3 deletion of RYR2 encoding cardiac ryanodine receptor is associated with left ventricular non-compaction. <i>Europace<\/i> 2014; 16: 1646\u20131654.","DOI":"10.1093\/europace\/eut382"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Campbell MJ, Czosek RJ, Hinton RB, Miller EM. Exon 3 deletion of ryanodine receptor causes left ventricular noncompaction, worsening catecholaminergic polymorphic ventricular tachycardia, and sudden cardiac arrest. <i>Am J Med Genet A<\/i> 2015; 167A: 2197\u20132200.","DOI":"10.1002\/ajmg.a.37140"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Liu Y, Wang R, Sun B, Mi T, Zhang J, Mu Y, et al. Generation and characterization of a mouse model harboring the exon-3 deletion in the cardiac ryanodine receptor. <i>PLoS One<\/i> 2014; 9: e95615.","DOI":"10.1371\/journal.pone.0095615"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Roston TM, Guo W, Krahn AD, Wang R, Van Petegem F, Sanatani S, et al. A novel <i>RYR2<\/i> loss-of-function mutation (I4855M) is associated with left ventricular non-compaction and atypical catecholaminergic polymorphic ventricular tachycardia. <i>J Electrocardiol<\/i> 2017; 50: 227\u2013233.","DOI":"10.1016\/j.jelectrocard.2016.09.006"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Hsueh CH, Weng YC, Chen CY, Lin TK, Lin YH, Lai LP, et al. A novel mutation (Arg169Gln) of the cardiac ryanodine receptor gene causing exercise-induced bidirectional ventricular tachycardia. <i>Int J Cardiol<\/i> 2006; 108: 276\u2013278.","DOI":"10.1016\/j.ijcard.2005.02.051"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Medeiros-Domingo A, Bhuiyan ZA, Tester DJ, Hofman N, Bikker H, van Tintelen JP, et al. The <i>RYR2<\/i>-encoded ryanodine receptor\/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: A comprehensive open reading frame mutational analysis. <i>J Am Coll Cardiol<\/i> 2009; 54: 2065\u20132074.","DOI":"10.1016\/j.jacc.2009.08.022"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Chin TK, Perloff JK, Williams RG, Jue K, Mohrmann R. Isolated noncompaction of left ventricular myocardium: A study of eight cases. <i>Circulation<\/i> 1990; 82: 507\u2013513.","DOI":"10.1161\/01.CIR.82.2.507"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Higasa K, Miyake N, Yoshimura J, Okamura K, Niihori T, Saitsu H, et al. Human genetic variation database, a reference database of genetic variations in the Japanese population. <i>J Hum Genet<\/i> 2016; 61: 547\u2013553.","DOI":"10.1038\/jhg.2016.12"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Murayama T, Kurebayashi N, Yamazawa T, Oyamada H, Suzuki J, Kanemaru K, et al. Divergent activity profiles of type 1 ryanodine receptor channels carrying malignant hyperthermia and central core disease mutations in the amino-terminal region. <i>PLoS One<\/i> 2015; 10: e0130606.","DOI":"10.1371\/journal.pone.0130606"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Uehara A, Murayama T, Yasukochi M, Fill M, Horie M, Okamoto T, et al. Extensive Ca<sup>2+<\/sup> leak through K4750Q cardiac ryanodine receptors caused by cytosolic and luminal Ca<sup>2+<\/sup> hypersensitivity. <i>J Gen Physiol<\/i> 2017; 149: 199\u2013218.","DOI":"10.1085\/jgp.201611624"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Zhao Y, Araki S, Wu J, Teramoto T, Chang YF, Nakano M, et al. An expanded palette of genetically encoded Ca<sup>2+<\/sup> indicators. <i>Science<\/i> 2011; 333: 1888\u20131891.","DOI":"10.1126\/science.1208592"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Suzuki J, Kanemaru K, Ishii K, Ohkura M, Okubo Y, Iino M. Imaging intraorganellar Ca<sup>2+<\/sup> at subcellular resolution using CEPIA. <i>Nat Commun<\/i> 2014; 5: 4153.","DOI":"10.1038\/ncomms5153"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23. Rijnbeek PR, Witsenburg M, Schrama E, Hess J, Kors JA. New normal limits for the paediatric electrocardiogram. <i>Eur Heart J<\/i> 2001; 22: 702\u2013711.","DOI":"10.1053\/euhj.2000.2399"},{"key":"24","doi-asserted-by":"crossref","unstructured":"24. Petersen SE, Selvanayagam JB, Wiesmann F, Robson MD, Francis JM, Anderson RH, et al. Left ventricular non-compaction: Insights from cardiovascular magnetic resonance imaging. <i>J Am Coll Cardiol<\/i> 2005; 46: 101\u2013105.","DOI":"10.1016\/j.jacc.2005.03.045"},{"key":"25","doi-asserted-by":"crossref","unstructured":"25. Kanemoto N, Horigome H, Nakayama J, Ichida F, Xing Y, Buonadonna AL, et al. Interstitial 1q43-q43 deletion with left ventricular noncompaction myocardium. <i>Eur J Med Genet<\/i> 2006; 49: 247\u2013253.","DOI":"10.1016\/j.ejmg.2005.06.004"},{"key":"26","doi-asserted-by":"crossref","unstructured":"26. Franco D, Lamers WH, Moorman AF. Patterns of expression in the developing myocardium: Towards a morphologically integrated transcriptional model. <i>Cardiovasc Res<\/i> 1998; 38: 25\u201353.","DOI":"10.1016\/S0008-6363(97)00321-0"},{"key":"27","doi-asserted-by":"crossref","unstructured":"27. Jiang D, Wang R, Xiao B, Kong H, Hunt DJ, Choi P, et al. Enhanced store overload-induced Ca<sup>2+<\/sup> release and channel sensitivity to luminal Ca<sup>2+<\/sup> activation are common defects of <i>RyR2<\/i> mutations linked to ventricular tachycardia and sudden death. <i>Circ Res<\/i> 2005; 97: 1173\u20131181.","DOI":"10.1161\/01.RES.0000192146.85173.4b"},{"key":"28","doi-asserted-by":"crossref","unstructured":"28. Jiang D, Xiao B, Yang D, Wang R, Choi P, Zhang L, et al. <i>RyR2<\/i> mutations linked to ventricular tachycardia and sudden death reduce the threshold for store-overload-induced Ca<sup>2+<\/sup> release (SOICR). <i>Proc Natl Acad Sci USA<\/i> 2004; 101: 13062\u201313067.","DOI":"10.1073\/pnas.0402388101"},{"key":"29","doi-asserted-by":"crossref","unstructured":"29. Amador FJ, Kimlicka L, Stathopulos PB, Gasmi-Seabrook GM, Maclennan DH, Van Petegem F, et al. Type 2 ryanodine receptor domain A contains a unique and dynamic alpha-helix that transitions to a beta-strand in a mutant linked with a heritable cardiomyopathy. <i>J Mol Biol<\/i> 2013; 425: 4034\u20134046.","DOI":"10.1016\/j.jmb.2013.08.015"},{"key":"30","doi-asserted-by":"crossref","unstructured":"30. Borko L, Bauerov\u00e1-Hlinkov\u00e1 V, Hostinov\u00e1 E, Ga\u0161per\u00edk J, Beck K, Lai FA, et al. Structural insights into the human <i>RyR2<\/i> N-terminal region involved in cardiac arrhythmias. <i>Acta Crystallogr D Biol Crystallogr<\/i> 2014; 70: 2897\u20132912.","DOI":"10.1107\/S1399004714020343"},{"key":"31","doi-asserted-by":"crossref","unstructured":"31. Ichida F, Hamamichi Y, Miyawaki T, Ono Y, Kamiya T, Akagi T, et al. Clinical features of isolated noncompaction of the ventricular myocardium: Long-term clinical course, hemodynamic properties, and genetic background. <i>J Am Coll Cardiol<\/i> 1999; 34: 233\u2013240.","DOI":"10.1016\/S0735-1097(99)00170-9"},{"key":"32","doi-asserted-by":"crossref","unstructured":"32. Stollberger C, Finsterer J. Left ventricular hypertrabeculation\/noncompaction. <i>J Am Soc Echocardiogr<\/i> 2004; 17: 91\u2013100.","DOI":"10.1016\/S0894-7317(03)00514-5"},{"key":"33","doi-asserted-by":"crossref","unstructured":"33. Sumitomo N, Harada K, Nagashima M, Yasuda, T, Nakamura Y, Aragaki Y, et al. Catecholaminergic polymorphic ventricular tachycardia: Electrocardiographic characteristics and optimal therapeutic strategies to prevent sudden death. <i>Heart<\/i> 2003; 89: 66\u201370.","DOI":"10.1136\/heart.89.1.66"},{"key":"34","doi-asserted-by":"crossref","unstructured":"34. van der Werf C, Nederend I, Hofman N, van Geloven N, Ebink C, Frohn-Mulder IM, et al. Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: Disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives. <i>Circ Arrhythm Electrophysiol<\/i> 2012; 5: 748\u2013756.","DOI":"10.1161\/CIRCEP.112.970517"},{"key":"35","doi-asserted-by":"crossref","unstructured":"35. Marjamaa A, Laitinen-Forsblom P, Lahtinen AM, Viitasalo M, Toivonen L, Kontula K, et al. Search for cardiac calcium cycling gene mutations in familial ventricular arrhythmias resembling catecholaminergic polymorphic ventricular tachycardia. <i>BMC Med Genet<\/i> 2009; 10: 12.","DOI":"10.1186\/1471-2350-10-12"},{"key":"36","doi-asserted-by":"crossref","unstructured":"36. Paris Y, Toro-Salazar OH, Gauthier NS, Rotondo KM, Arnold L, Hamershock R, et al; New England Congenital Cardiology Association (NECCA). Regional Implementation of a pediatric cardiology syncope algorithm using standardized clinical assessment and management plans (SCAMPS) methodology. <i>J Am Heart Assoc<\/i> 2016; 5: e002931.","DOI":"10.1161\/JAHA.115.002931"},{"key":"37","doi-asserted-by":"crossref","unstructured":"37. Roston TM, Vinocur JM, Maginot KR, Mohammed S, Salerno JC, Etheridge SP, et al. Catecholaminergic polymorphic ventricular tachycardia in children: Analysis of therapeutic strategies and outcomes from an international multicenter registry. <i>Circ Arrhythm Electrophysiol<\/i> 2015; 8: 633\u2013642.","DOI":"10.1161\/CIRCEP.114.002217"},{"key":"38","doi-asserted-by":"crossref","unstructured":"38. Ohno S, Hasegawa K, Horie M. Gender differences in the inheritance mode of <i>RYR2<\/i> mutations in catecholaminergic polymorphic ventricular tachycardia patients. <i>PLoS One<\/i> 2015; 10: e0131517.","DOI":"10.1371\/journal.pone.0131517"},{"key":"39","doi-asserted-by":"crossref","unstructured":"39. 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Isolated left ventricular noncompaction in sub-Saharan Africa: A clinical and echocardiographic perspective. <i>Circ Cardiovasc Imaging<\/i> 2012; 5: 187\u2013193.","DOI":"10.1161\/CIRCIMAGING.111.966937"}],"container-title":["Circulation Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/circj\/84\/2\/84_CJ-19-0720\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,1,25]],"date-time":"2020-01-25T03:23:13Z","timestamp":1579922593000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/circj\/84\/2\/84_CJ-19-0720\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1,24]]},"references-count":39,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2020]]}},"URL":"https:\/\/doi.org\/10.1253\/circj.cj-19-0720","relation":{},"ISSN":["1346-9843","1347-4820"],"issn-type":[{"value":"1346-9843","type":"print"},{"value":"1347-4820","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,1,24]]}}}