101-200

101. McGoon M, Gutterman D, Steen V, et al. Screening, early detection, and diagnosis of pulmonary arterial hypertension. ACCP evidence-based clinical

practice guidelines. Chest 2004; 126 (1 Suppl): 14S-34S.

102. 心筋症調査研究班編．心筋症：診断の手引きとその解説．2005.

103. Richardson P, McKenna W, Bristow M, et al. Report of the 1995 World Health Organization/Internal Society and Federation of Cardiology Task Force

on the definition and classification of cardiomy-opathies. Circulation 1996; 93: 841-842.

104. Maron BJ, Towbin JA, Thiene G, et al. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific

Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and

Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation 2006; 113:

1807-1816.

105. Seidman JG, Seidman C. The genetic basis for cardiomyopathy: From mutation identification to mechanistic paradigms. Cell 2001; 104: 557-567.

106. 今井靖，他．循環器疾患の遺伝子研究．日本内科学会雑誌 2002; 91: 832-837.

107. 松森昭，他．心筋症における C 型肝炎ウイルス感染の意義．特発性心筋症調査研究班平成 9 年度研究報告集．1998: 9-11.

108. 品川達夫，他．心筋症の生検心筋標本におけるcoxsackievirus 増殖の検討．特発性心筋症調査研究班平成9 年度研究報告集．1996: 105-109.

109. Watkins H, McKenna WJ, Thierfelder L, et al. Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.

N Engl J Med 1995; 332; 1058-1064.

110. Kimura A, Harada H, Park JE, et al. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat Genet 1997; 16: 379-

382.

111. Satoh M, Takahashi M, Sakamoto T, et al. Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene.

Biochem Biophys Res Commun 1999 27; 262: 411-417.

112. Danieli GA, Rampazzo A. Genetics of arrhythmogenic right ventricular cardiomyopathy. Curr Opin Cardiol 2002; 17: 218-221.

113. Rampazzo A, Nava A, Danieli GA, et al. The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24. Hum Mol

Genet 1994; 3: 959-962.

114. Rampazzo A, Nava A, Erne P, et al. A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43. Hum

Mol Genet 1995 ; 4: 2151-2154.

115. Severini GM, Krajinovic M, Pinamonti B, et al. A new locus for arrhythmogenic right ventricular dysplasia on the long arm of chromosome 14.

Genomics 1996; 31: 193-200.

116. Rampazzo A, Nava A, Miorin M, et al. ARVD4, a new locus for arrhythmogenic right ventricular cardiomyopathy, maps to chromosome 2 long arm.

Genomics 1997; 45: 259-263.

117. Ahmad F, Li D, Karibe A, et al. Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23. Circulation

1998; 98: 2791-2795.

118. Melberg A, Oldfors A, Blomstrom-Lundqvist C, et al. Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy

linked to chromosome 10q. Ann Neurol 1999; 46: 684-692.

119. Rampazzo A, Nava A, Malacrida S, et al. Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic

right ventricular cardiomyopathy. Am J Hum Genet 2002 ; 71: 1200-1206.

120. Gerull B, Heuser A, Wichter T, et al. Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular

cardiomyopathy. Nat Genet 2004: 36: 1162-1164.

121. Thiene G, Corrado D, Nava A, et al. Right ventricular cardiomyopathy: is there evidence of an inflammatory aetiology? Eur Heart J 1991; 12 Suppl

D: 22-25.

122. Klaassen S, Probst S, Oechslin E, et al. Mutations in sarcomere protein genes in left ventricular noncompaction. Circulation 2008; 117: 2893-2901.

123. Santorelli FM, Tessa A, D’Amati G, et al. The emerging concept of mitochondrial cardiomyopathies. Am Heart J 2001; 141: E1.

124. Tanaka M, Ino H, Ohno K, et al. Mitochondrial mutation in fatal infantile cardiomyopathy. Lancet 1990; 336: 1452.

125. 田中雅嗣．ミトコンドリア心筋症．日本臨床増刊号「ミトコンドリアとミトコンドリア病」2002: 306-311.

126. 田中雅嗣，米田誠．ミトコンドリア心筋症. 単行本「心不全」（編集: 篠山重威）．医薬ジャーナル社，大阪．

127. Frustaci A, Chimenti C, Ricci R, et al. Improvement in cardiac function in the cardiac variant of Fabry’s disease with galactose-infusion therapy.

N Engl J Med 2001; 345: 25-32.

128. Nakao S, Takenaka T, Maeda M, et al. An atypical variant of Fabry’s disease in men with left ventricular hypertrophy. N Engl J Med 1995; 333:

288-293.

129. Von Scheidt W, Eng CM, Fitzmaurice TF, et al. An atypical variant of Fabry’s disease with manifestations confined to the myocardium.

N Engl J Med 1991; 324: 395-399.

130. Sachdev B, Takenaka T, Teraguchi H, et al. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy.

Circulation 2002; 105: 1407-1411.

131. Yang Z, McMahon CJ, Smith LR, et al. Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children. Circulation 2005;

112: 1612-1617.

132. Chen Y-T. Glycogen storage diseases. In Scriver CR, Beaudet AL, Sly WA, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease.

8th ed. New York, McGraw-Hill, 2001: 1521-1552.

133. Van Hove JLK, Wevers RA, Van Cleemput J, et al. Lateonset visceral presentation with cardiomyopathy and without neurological symptoms of adult

Sanfilippo A syndrome. Am J Med Genet A 2003; 118A: 382-387.

134. Roe CR, Ding J. Mitochondrial fatty acid oxidation disorders. In Scriver CR, Beaudet AL, Sly WA, Valle D (eds): The Metabolic and Molecular Bases

of Inherited Disease. 8th ed. New York, McGraw-Hill 2001: 2297-2326.

135. Olynyk JK, Cullen DJ, Aquilia S, et al. A population-based study of the clinical expression of the hemochromatosis gene. N Engl J Med 1999; 341:

718-724.

136. Ortiz-Lopez R, Li H, Su J, et al. Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy. Circulation 1997; 95:

2434-2440.

137. Musante L, Kehl HG, Majewski F, et al. Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome

and five patients with cardiofacio-cutaneous syndrome. Eur J Hum Genet 2003; 11: 201-206.

138. Chien KR. Genotype, phenotype: Upstairs, downstairs in the family of cardiomyopathies. J Clin Invest 2003; 111: 175-178.

139. Braunwald E (eds). Heart Disease. 8th ed. Philadelphia, Elsevier Saunders 2008: 111-117.

140. Braunwald E (eds). Heart Disease. 7th ed. Philadelphia, Elsevier Saunders 2005: 1869-1894.

141. Keating MT, Sanguinetti MC. Molecular and cellular mechanisms of cardiac arrhythmias. Cell 2001; 104: 569-580. 142. Moss AJ. Long QT Syndrome.

JAMA 2003; 289: 2041-2044.

143. Kass RS, Moss AJ. Long QT syndrome: novel insights into the mechanisms of cardiac arrhythmias. J Clin Invest 2003; 112: 810-815.

144. Mohler PJ, Splawski I, Napolitano C, et al. A cardiac arrhythmia syndrome caused by loss of ankyrin-B function. Proc Natl Acad Sci U S A. 2004;

101: 9137-9142.

145. Andersen ED, Krasilnikoff PA, Overvad H. Intermittent muscular weakness, extra systoles, and multiple developmental anomalies. A new syndrome?

Acta Paediatr Scand. 1971; 60: 559-564.

146. Plaster NM, Tawil R, Tristani-Firouzi M, et al. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen’s

syndrome. Cell 2001; 105: 511-519.

147. Donaldson MR, Yoon G, Fu YH, et al. Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity. Ann Med 2004;

36 (Suppl 1): 92-97.

148. Fodstad H, Swan H, Auberson M, et al. Loss-of-function mutations of the K (+) channel gene KCNJ2 constitute a rare cause of long QT syndrome.

J Mol Cell Cardiol 2004; 37: 593-602.

149. Splawski I, Timothy KW, Sharpe LM, et al. Ca (V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism.

Cell 2004; 119: 19-31.

150. Napolitano C, Bloise R, Priori SG. Gene-specific therapy for inherited arrhythmogenic diseases. Pharmacol Ther 2005.

151. Splawski I, Shen J, Timothy KW, et al. Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

Circulation 2000; 102: 1178-1185.

152. Priori SG, Schwartz PJ, Napolitano C, et al. Risk stratification in the long-QT syndrome. N Engl J Med.2003; 348: 1866-1874.

153. Hiraoka M. Inherited arrhythmic disorders in Japan. J Cardiovasc Electrophysiol 2003; 14: 431-434.

154. Tester DJ, Will ML, Haglund CM, et al. Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome

genetic testing. Heart Rhythm 2005; 2: 507-517.

155. Moss AJ, Zareba W, Benhorin J, et al. ECG T-wave patterns in genetically distinct forms of the hereditary long QT syndrome. Circulation 1995; 92:

2929-2934.

156. Zhang L, Timothy KW, Vincent GM, et al. Spectrum of STT-wave patterns and repolarization parameters in congenital long-QT syndrome: ECG

findings identify genotypes. Circulation 2000; 102: 2849-2855.

157. Dausse E, Berthet M, Denjoy I, et al. A mutation in HERG associated with notched T waves in long QT syndrome. J Mol Cell Cardiol 1996; 28: 1609-

1615.

158. Malfatto G, Beria G, Sala S, et al. Quantitative analysis of T wave abnormalities and their prognostic implications in the idiopathic long QT syndrome.

J Am Coll Cardiol 1994; 23: 296-301.

159. Schwartz PJ, Priori SG, Spazzolini C, et al. Genotypephenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening

arrhythmias. Circulation 2001; 103: 89-95.

160. Sakaguchi T, Shimizu W, Itoh H, et al. Age- and genotypespecific triggers for life-threatening arrhythmia in the genotyped long QT syndrome.

J Cardiovasc Electrophysiol 2008; 19: 794-799.

161. Shimizu W, Horie M, Ohno S, et al. Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in the LQT1 form of

congenital long QT syndrome: Multicenter study in Japan. J Am Coll Cardiol 2004; 44: 117-125.

162. Moss AJ, Shimizu W, Wilde AA, et al. Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations

involving the KCNQ1 gene. Circulation 2007; 115: 2481-2489.

163. Shimizu W, Moss AJ, Wilde AA, et al. Genotype-phenotype aspects of type 2 long QT syndrome. J Am Coll Cardiol 2009; 54: 2052-2062.

164. Priori SG, Napolitano C, Schwartz PJ. Low penetrance in the long-QT syndrome: clinical impact. Circulation 1999; 99: 529-533.

165. Schwartz PJ, Priori SG, Locati EH, et al. Long QT syndrome patients with mutations of the SCN5A and HERG genes have differential responses to

Na+ channel blockade and to increases in heart rate. Implications for gene-specific therapy. Circulation 1995; 92: 3381-3386.

166. Shimizu W. The long QT syndrome: Therapeutic implications of a genetic diagnosis. Cardiovasc Res 2005; 67: 347-356.

167. Compton SJ, Lux RL, Ramsey MR, et al. Genetically defined therapy of inherited long-QT syndrome. Correction of abnormal repolarization by

potassium. Circulation 1996; 94: 1018-1022.

168. Priori SG, Napolitano C, Schwartz PJ, et al. The elusive link between LQT3 and Brugada syndrome: the role of flecainide challenge. Circulation 2000;

102: 945-947.

169. Priori SG, Napolitano C, Schwartz PJ, et al. Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers.

JAMA 2004; 292: 1341-1344.

170. Gouas L, Bellocq C, Berthet M, et al. New KCNQ1 mutations leading to haploinsufficiency in a general population; Defective trafficking of a KvLQT1

mutant. Cardiovasc Res 2004; 63: 60-68.

171. Zhou Z, Gong Q, Epstein ML, et al. HERG channel dysfunc-tion in human long QT syndrome. Intracellular transport and functional defects. J Biol

Chem 1998; 273: 21061-21066.

172. Donger C, Denjoy I, Berthet M, et al. KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. Circulation 1997; 96: 2778-

2781.

173. Napolitano C, Schwartz PJ, Brown AM, et al. Evidence for a cardiac ion channel mutation underlying drug-induced QT prolongation and life-threatening

arrhythmias. J Cardiovasc Electrophysiol 2000; 11: 691-696.

174. Piippo K, Holmstrom S, Swan H, et al. Effect of the antimalarial drug halofantrine in the long QT syndrome due to a mutation of the cardiac sodium

channel gene SCN5A. Am J Cardiol 2001; 87: 909-911.

175. Sesti F, Abbott GW, Wei J, et al. A common polymorphism associated with antibiotic-induced cardiac arrhythmia. Proc Natl Acad Sci U S A 2000;

97: 10613-10618.

176. Kubota T, Shimizu W, Kamakura S, et al. Hypokalemiainduced long QT syndrome with an underlying novel missense mutation in S4-S5 linker of

KCNQ1. J Cardiovasc Electrophysiol 2000; 11: 1048-1054.

177. Yoshida H, Horie M, Otani H, et al. Bradycardia-induced long QT syndrome caused by a de novo missense mutation in the S2-S3 inner loop of HERG.

Am J Med Genet 2001; 98: 348-352.

178. Roden DM. Pharmacogenet ics and drug- induced arrhythmias. Cardiovasc Res 2001; 50: 224-231.

179. Brugada P, Brugada J. Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and

electrocardiographic syndrome. A multicenter report. J Am Coll Cardiol 1992; 20: 1391-1396.

180. Antzelevitch C, Brugada P, Borggrefe M, et al. Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm

Society and the European Heart Rhythm Association. Circulation 2005; 111: 659-670.

181. Wilde AA, Antzelevitch C, Borggrefe M, et al. Proposed diagnostic criteria for the Brugada syndrome: consensus report. Circulation 2002; 106:

2514-2519.

182. Chen Q, Kirsch GE, Zhang D, et al. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 1998; 392: 293-296.

183. Antzelevitch C, Yan GX, Shimizu W. Transmural dispersion of repolarization and arrhythmogenicity: the Brugada syndrome versus the long QT

syndrome. J Electrocardiol 1999; 32 (Suppl): 158-165.

184. Nademanee K, Veerakul G, Nimmannit S, et al. Arrhythmogenic marker for the sudden unexplained death syndrome in Thai men. Circulation 1997;

96: 2595-2600.

185. Miyasaka Y, Tsuji H, Yamada K, et al. Prevalence and mortality of the Brugada-type electrocardiogram in one city in Japan. J Am Coll Cardiol 2001;

38: 771-774.

186. Brugada J, Brugada R, Brugada P. Right bundle-branch block and ST-segment elevation in leads V1 through V3: a marker for sudden death in patients

without demonstrable structural heart disease. Circulation 1998; 97: 457-460.

187. Priori SG, Napolitano C, Gasparini M, et al. Natural history of Brugada syndrome: insights for risk stratification and manage-ment. Circulation 2002;

105: 1342-1347.

188. Atarashi H, Ogawa S, Harumi K, et al. Three-year followup of patients with right bundle branch block and st segment elevation in the right precordial

leads: Japanese registry of brugada syndrome. Idiopathic ventricular fibrillation investigators. J Am Coll Cardiol 2001; 37: 1916-1920.

189. Ikeda T, Sakurada H, Sakabe K, et al. Assessment of noninvasive markers in identifying patients at risk in the Brugada syndrome: insight into risk

stratification. J Am Coll Cardiol 2001; 37: 1628-1634.

190. Atarashi H, Ogawa S. New ECG criteria for high-risk Brugada syndrome. Circ J 2003; 67: 8-10.

191. Morita H, Takenaka-Morita S, Fukushima-Kusano K, et al. Risk stratification for asymptomatic patients with Brugada syndrome. Circ J 2003; 67: 312-

316.

192. Brugada J, Brugada R, Antzelevitch C, et al. Long-term follow-up of individuals with the electrocardiographic pattern of right bundle-branch block and

ST-segment elevation in precordial leads V1 to V3. Circulation 2002; 105: 73-78.

193. Kanda M, Shimizu W, Matsuo K, et al. Electrophysiologic characteristics and implications of induced ventricular fibrillation in symptomatic patients

with Brugada syndrome. J Am Coll Cardiol 2002; 39: 1799-1805.

194. Eckardt L, Kirchhof P, Schulze-Bahr E, et al. Electrophysiologic investigation in Brugada syndrome; yield of programmed ventricular stimulation at two

ventricular sites with up to three premature beats. Eur Heart J 2002; 23: 1394-1401.

195. Chen YH, Xu SJ, Bendahhou S, et al. KCNQ1 gain-offunction mutation in familial atrial fibrillation. Science 2003; 299: 251-254.

196. Yang Y, Xia M, Jin Q, et al. Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. Am J Hum Genet 2004; 75:

899-905.

197. Gussak I, Brugada P, Brugada J, et al. Idiopathic short QT interval: a new clinical syndrome? Cardiology 2000; 94: 99-102.

198. Bjerregaard P, Gussak I. Short QT syndrome. Ann Noninvasive Electrocardiol 2005; 10: 436-440.

199. Priori SG, Pandit SV, Rivolta I, et al. A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene. Circ Res 2005; 96:

800-807.

200. Gaita F, Giustetto C, Bianchi F, et al. Short QT Syndrome: a familial cause of sudden death. Circulation 2003; 108: 965-970.

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