p.120 抽出テキスト

1014. Anderson K, Cnota J, James J, Miller EM, Parrott A, Pilipenko V, et al. Prevalence of Noonan spectrum disorders in a pediatric population with valvar pulmonary stenosis. Congenit Heart Dis 2019;14:264–273. https://doi.org/10.1111/chd.12721 1015. Ko S, Komuro J, Katsumata Y, Shiraishi Y, Kawakami T, Yamada Y, et al. Peripheral pulmonary stenosis with Noonan syndrome treated by balloon pulmonary angioplasty. Pulm Circ 2020;10:2045894020954310. https://doi.org/10.1177/2045894020 954310 1016. Durr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, et al. Clinical and genetic abnormalities in patients with Friedreich’s ataxia. N Engl J Med 1996;335: 1169–1175. https://doi.org/10.1056/NEJM199610173351601 1017. Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcanti F, et al. Friedreich’s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996;271:1423–1427. https://doi.org/10.1126/science.271. 5254.1423 1018. Cai K, Frederick RO, Tonelli M, Markley JL. Interactions of iron-bound frataxin with ISCU and ferredoxin on the cysteine desulfurase complex leading to Fe-S cluster assembly. J Inorg Biochem 2018;183:107–116. https://doi.org/10.1016/j.jinorgbio.2018. 03.007 1019. Filla A, De Michele G, Cavalcanti F, Pianese L, Monticelli A, Campanella G, et al. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet 1996;59:554–560. 1020. Delatycki MB, Paris DB, Gardner RJ, Nicholson GA, Nassif N, Storey E, et al. Clinical and genetic study of Friedreich ataxia in an Australian population. Am J Med Genet 1999;87:168–174.https://doi.org/10.1002/(sici)1096-8628(19991119)87:2<168:: AID-AJMG8>3.0.CO;2-2 1021. Ackroyd RS, Finnegan JA, Green SH. Friedreich’s ataxia. A clinical review with neurophysiological and echocardiographic findings. Arch Dis Child 1984;59:217–221. https:// doi.org/10.1136/adc.59.3.217 1022. Harding AE. Friedreich’s ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 1981;104:589–620. https://doi.org/10.1093/brain/104.3.589 1023. Geoffroy G, Barbeau A, Breton G, Lemieux B, Aube M, Leger C, et al. Clinical description and roentgenologic evaluation of patients with Friedreich’s ataxia. Can J Neurol Sci 1976;3:279–286. https://doi.org/10.1017/S0317167100025464 1024. Hoffman-Zacharska D, Mazurczak T, Zajkowski T, Tataj R, Gorka-Skoczylas P, Polatynska K, et al. Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling. J Appl Genet 2016;57:349–355. https://doi.org/10.1007/s13353-015-0331-4 1025. de Silva R, Greenfield J, Cook A, Bonney H, Vallortigara J, Hunt B, et al. Guidelines on the diagnosis and management of the progressive ataxias. Orphanet J Rare Dis 2019; 14:51. https://doi.org/10.1186/s13023-019-1013-9 1026. Raman SV, Phatak K, Hoyle JC, Pennell ML, McCarthy B, Tran T, et al. Impaired myocardial perfusion reserve and fibrosis in Friedreich ataxia: a mitochondrial cardiomyopathy with metabolic syndrome. Eur Heart J 2011;32:561–567. https://doi.org/10. 1093/eurheartj/ehq443 1027. Pousset F, Legrand L, Monin ML, Ewenczyk C, Charles P, Komajda M, et al. A 22-year follow-up study of long-term cardiac outcome and predictors of survival in Friedreich ataxia. JAMA Neurol 2015;72:1334–1341. https://doi.org/10.1001/jamaneurol.2015. 1855 1028. Meyer C, Schmid G, Gorlitz S, Ernst M, Wilkens C, Wilhelms I, et al. Cardiomyopathy in Friedreich’s ataxia–assessment by cardiac MRI. Mov Disord 2007;22:1615–1622. https://doi.org/10.1002/mds.21590 1029. Casazza F, Morpurgo M. The varying evolution of Friedreich’s ataxia cardiomyopathy. Am J Cardiol 1996;77:895–898. https://doi.org/10.1016/S0002-9149(97)89194-1 1030. Child JS, Perloff JK, Bach PM, Wolfe AD, Perlman S, Kark RA. Cardiac involvement in Friedreich’s ataxia: a clinical study of 75 patients. J Am Coll Cardiol 1986;7:1370–1378. https://doi.org/10.1016/S0735-1097(86)80159-0 1031. Koeppen AH. Friedreich’s ataxia: pathology, pathogenesis, and molecular genetics. J Neurol Sci 2011;303:1–12. https://doi.org/10.1016/j.jns.2011.01.010 1032. Payne RM, Peverill RE. Cardiomyopathy of Friedreich’s ataxia (FRDA). Ir J Med Sci 2012;181:569–570. https://doi.org/10.1007/s11845-012-0808-7 1033. Payne RM, Wagner GR. Cardiomyopathy in Friedreich ataxia: clinical findings and research. J Child Neurol 2012;27:1179–1186. https://doi.org/10.1177/088307381244 8535 1034. Weidemann F, Rummey C, Bijnens B, Stork S, Jasaityte R, Dhooge J, et al. The heart in Friedreich ataxia: definition of cardiomyopathy, disease severity, and correlation with neurological symptoms. Circulation 2012;125:1626–1634. https://doi.org/10.1161/ CIRCULATIONAHA.111.059477 1035. Weidemann F, Liu D, Hu K, Florescu C, Niemann M, Herrmann S, et al. The cardiomyopathy in Friedreich’s ataxia – new biomarker for staging cardiac involvement. Int J Cardiol 2015;194:50–57. https://doi.org/10.1016/j.ijcard.2015.05.074 1036. Rustin P, von Kleist-Retzow JC, Chantrel-Groussard K, Sidi D, Munnich A, Rotig A. Effect of idebenone on cardiomyopathy in Friedreich’s ataxia: a preliminary study. Lancet 1999;354:477–479. https://doi.org/10.1016/S0140-6736(99)01341-0 1037. Di Prospero NA, Baker A, Jeffries N, Fischbeck KH. Neurological effects of high-dose idebenone in patients with Friedreich’s ataxia: a randomised, placebo-controlled trial. Lancet Neurol 2007;6:878–886. https://doi.org/10.1016/S1474-4422(07)70220-X 1038. Lynch DR, Perlman SL, Meier T. A phase 3, double-blind, placebo-controlled trial of idebenone in Friedreich ataxia. Arch Neurol 2010;67:941–947. https://doi.org/10. 1001/archneurol.2010.168 1039. Lagedrost SJ, Sutton MS, Cohen MS, Satou GM, Kaufman BD, Perlman SL, et al. Idebenone in Friedreich ataxia cardiomyopathy–results from a 6-month phase III study (IONIA). Am Heart J 2011;161:639–645.e1. https://doi.org/10.1016/j.ahj. 2010.10.038 1040. Cook A, Boesch S, Heck S, Brunt E, Klockgether T, Schols L, et al. Patient-reported outcomes in Friedreich’s ataxia after withdrawal from idebenone. Acta Neurol Scand 2019;139:533–539. https://doi.org/10.1111/ane.13088 1041. van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT, et al. The natural course of infantile Pompe’s disease: 20 original cases compared with 133 cases from the literature. Pediatrics 2003;112:332–340. https://doi.org/10.1542/peds. 112.2.332 1042. Gillette PC, Nihill MR, Singer DB. Electrophysiological mechanism of the short PR interval in Pompe disease. Am J Dis Child 1974;128:622–6. https://doi.org/10.1001/ archpedi.1974.02110300032005 1043. Gollob MH, Green MS, Tang AS, Gollob T, Karibe A, Ali Hassan A-S, et al. Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. N Engl J Med 2001;344:1823–1831. https://doi.org/10.1056/NEJM200106143442403 1044. Sternick EB, Oliva A, Magalhaes LP, Gerken LM, Hong K, Santana O, et al. Familial pseudo-Wolff-Parkinson-White syndrome. J Cardiovasc Electrophysiol 2006;17: 724–732. https://doi.org/10.1111/j.1540-8167.2006.00485.x 1045. Arad M, Benson DW, Perez-Atayde AR, McKenna WJ, Sparks EA, Kanter RJ, et al. Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. J Clin Invest 2002;109:357–362. https://doi.org/10. 1172/JCI0214571 1046. Porto AG, Brun F, Severini GM, Losurdo P, Fabris E, Taylor MRG, et al. Clinical spectrum of PRKAG2 syndrome. Circ Arrhythm Electrophysiol 2016;9:e003121. https://doi. org/10.1161/CIRCEP.115.003121 1047. Lopez-Sainz A, Dominguez F, Lopes LR, Ochoa JP, Barriales-Villa R, Climent V, et al. Clinical features and natural history of PRKAG2 variant cardiac glycogenosis. J Am Coll Cardiol 2020;76:186–197. https://doi.org/10.1016/j.jacc.2020.05.029 1048. Maron BJ, Roberts WC, Arad M, Haas TS, Spirito P, Wright GB, et al. Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy. JAMA 2009;301: 1253–1259. https://doi.org/10.1001/jama.2009.371 1049. Lotan D, Salazar-Mendiguchia J, Mogensen J, Rathore F, Anastasakis A, Kaski J, et al. Clinical profile of cardiac involvement in Danon disease: a multicenter European registry. Circ Genom Precis Med 2020;13:e003117. https://doi.org/10.1161/ CIRCGEN.120.003117 1050. Stevens-Lapsley JE, Kramer LR, Balter JE, Jirikowic J, Boucek D, Taylor M. Functional performance and muscle strength phenotypes in men and women with Danon disease. Muscle Nerve 2010;42:908–914. https://doi.org/10.1002/mus.21811 1051. D’Souza RS, Levandowski C, Slavov D, Graw SL, Allen LA, Adler E, et al. Danon disease: clinical features, evaluation, and management. Circ Heart Fail 2014;7:843–849. https://doi.org/10.1161/CIRCHEARTFAILURE.114.001105 1052. Nishino I, Fu J, Tanji K, Yamada T, Shimojo S, Koori T, et al. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature 2000;406:906–910. https://doi.org/10.1038/35022604 1053. Sternick EB, Oliva A, Gerken LM, Magalhaes L, Scarpelli R, Correia FS, et al. Clinical, electrocardiographic, and electrophysiologic characteristics of patients with a fasciculoventricular pathway: the role of PRKAG2 mutation. Heart Rhythm 2011;8:58–64. https://doi.org/10.1016/j.hrthm.2010.09.081 1054. Murphy RT, Mogensen J, McGarry K, Bahl A, Evans A, Osman E, et al. Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome: natural history. J Am Coll Cardiol 2005; 45:922–930. https://doi.org/10.1016/j.jacc.2004.11.053 1055. Hahn SH, Kronn D, Leslie ND, Pena LDM, Tanpaiboon P, Gambello MJ, et al. Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study. Genet Med 2018;20:1284–1294. https://doi.org/10. 1038/gim.2018.2 1056. Nicolino M, Byrne B, Wraith JE, Leslie N, Mandel H, Freyer DR, et al. Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med 2009;11:210–219. https://doi.org/10. 1097/GIM.0b013e31819d0996 1057. Gonzalez-Lopez E, Gallego-Delgado M, Guzzo-Merello G, de Haro-Del Moral FJ, Cobo-Marcos M, Robles C, et al. Wild-type transthyretin amyloidosis as a cause of heart failure with preserved ejection fraction. Eur Heart J 2015;36:2585–2594. https://doi.org/10.1093/eurheartj/ehv338 1058. Damy T, Costes B, Hagege AA, Donal E, Eicher J-C, Slama M, et al. Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients Downloaded from academic.oup.com/eurheartj/article/44/37/3503/7246608 by guest on 07 October 2026