参考文献/References:
[1] Miles C,Finocchiaro G,Papadakis M,et al.Sudden death and left ventricular involvement in arrhythmogenic cardiomyopathy[J].Circulation,2019,139(15):1786-1797.
[2] Bennett RG,Haqqani HM,Berruezo A,et al.Arrhythmogenic cardiomyopathy in 2018–2019: ARVC/ALVC or both?[J].Heart,Lung and Circulation,2019,28(1):164-177.
[3] Vives-Gilabert Y,Sanz-Sánchez J,Molina P,et al.Left ventricular myocardial dysfunction in arrhythmogenic cardiomyopathy with left ventricular involvement: A door to improving diagnosis[J].Int J Cardiol,2019,274:237-244.
[4] Marcus FI,McKenna WJ,Sherrill D,et al.Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia[J].Circulation,2010,121(13):1533-1541.
[5] Ackerman MJ,Priori SG,Willems S,et al.HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies[J].Heart Rhythm,2011,8(8):1308-1339.
[6] Towbin JA,McKenna WJ,Abrams DJ,et al.2019 HRS expert consensus statement on evaluation,risk stratification,and management of arrhythmogenic cardiomyopathy: Execuive summary[J].Heart Rhythm,2019,16(11):e373-e407.
[7] Chen L,Song J,Chen X,et al.A novel genotype-based clinicopathology classification of arrhythmogenic cardiomyopathy provides novel insights into disease progression[J].Eur Heart J,2019,40(21):1690-1703.
[8] Duru F,Hauer RNW.Multiple facets of arrhythmogenic cardiomyopathy:the Fuwai classification of a unique disease based on clinical features,histopathology,and genotype[J].Eur Heart J,2019,40(21):1704-1706.
[9] Corrado D,Basso C,Judge DP.Arrhythmogenic cardiomyopathy[J].Circ Res,2017,121(7):784-802.
[10] Ye JZ,Delmar M,Lundby A,et al.Reevaluation of genetic variants previously associated with arrhythmogenic right ventricular cardiomyopathy integrating population‐based cohorts and proteomics data[J].Clin Genet,2019,96(6):506-514.
[11] Calkins H,Corrado D,Marcus F.Risk stratification in arrhythmogenic right ventricular cardiomyopathy[J].Circulation,2017,136(21):2068-2082.
[12] Kam CY,Dubash AD,Magistrati E,et al.Desmoplakin maintains gap junctions by inhibiting Ras/MAPK and lysosomal degradation of connexin-43[J].J Cell Biol,2018,217(9):3219-3235.
[13] Sepehrkhouy S,Gho JMIH,van Es R,et al.Distinct fibrosis pattern in desmosomal and phospholamban mutation carriers in hereditary cardiomyopathies[J].Heart Rhythm,2017,14(7):1024-1032.
[14] Bhonsale A,Groeneweg JA,James CA,et al.Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers[J].Eur Heart J,2015,36(14):847-855.
[15] Hermida A,Fressart V,Hidden-Lucet F,et al.High risk of heart failure associated with desmoglein-2 mutations compared to plakophilin-2 mutations in arrhythmogenic right ventricular cardiomyopathy/dysplasia[J].Eur J Heart Fail,2019,21(6):792-800.
[16] Wong JA,Duff HJ,Yuen T,et al.Phenotypic analysis of arrhythmogenic cardiomyopathy in the hutterite population: role of electrocardiogram in identifying high‐risk desmocollin‐2 carriers[J].J Am Heart Assoc,2014,3(6):e001407.
[17] Austin KM,Trembley MA,Chandler SF,et al.Molecular mechanisms of arrhythmogenic cardiomyopathy[J].Nat Rev Cardiol,2019,16(9):519-537.
[18] Ohno S.The genetic background of arrhythmogenic right ventricular cardiomyopathy[J].J Arrhythm,2016,32(5):398-403.
[19] Kato K,Takahashi N,Fujii Y,et al.LMNA cardiomyopathy detected in Japanese arrhythmogenic right ventricular cardiomyopathy cohort[J].J Cardiol,2016,68(4):346-351.
[20] 范思洋,姚焰.致心律失常性心肌病诊疗进展[J].心电与循环,2019,38(5):376-379.
[21] Brun F,Barnes CV,Sinagra G,et al.Titin and desmosomal genes in the natural history of arrhythmogenic right ventricular cardiomyopathy[J].J Med Genet,2014,51(10):669-676.
[22] Cortez AG,Ortiz NA,Arguellez EA,et al.Catecholaminergic polymorphic ventricular tachycardia due to de novo RyR2 mutation: recreational cycling as a trigger of lethal arrhythmias[J].Arch Med Sci,2020,16(2):466-470.
[23] Wilde A,Amin AS.Clinical spectrum of SCN5A mutations: long QT syndrome,brugada syndrome,and cardiomyopathy[J].JACC Clin Electrophysiol,2018,4(5):569-579.
[24] 付灵华,洪葵.致心律失常性右心室心肌病与运动[J].临床心血管病杂志,2017,33(1):9-12.
[25] Cerrone M,Montnach J,Lin X,et al.Plakophilin-2 is required for transcription of genes that control calcium cycling and cardiac rhythm[J].Nat Commun,2017,8(1):106.
[26] Hodgkinson KA,Howes AJ,Boland P,et al.Long-term clinical outcome of arrhythmogenic
right ventricular cardiomyopathy in individuals with a p.S358L mutation in TMEM43 following implantable cardioverter defbrillator therapy[J].Circ Arrhythm Electrophysiol,2016,9(3):1941-3084.
[27] Hamilton-Craig C,McGavigan A,Semsarian C,et al.The Cardiac Society of Australia and New Zealand position statement on the diagnosis and management of arrhythmogenic right ventricular cardiomyopathy (2019 update)[J].Heart Lung Circ,2020,29(1):40-48.
[28] Liang E,Wu L,Fan S,et al.Bradyarrhythmias in arrhythmogenic right ventricular cardiomyopathy[J].Am J Cardiol,2019,123(10):1690-1695.
[29] Corrado D,Wichter T,Link MS,et al.Treatment of arrhythmogenic right ventricular cardiomyopathy/dysplasia[J].Circulation,2015,132(5):441-453.
[30] Chelko SP,Asimaki A,Andersen P,et al.Central role for GSK3β in the pathogenesis of arrhythmogenic cardiomyopathy[J] .JCI Insight,2016,1(5):e85923.
[31] Asimaki A,Kapoor S,Plovie E,et al.Identification of a new modulator of the intercalated disc in a zebrafish model of arrhythmogenic cardiomyopathy[J].Sci Transl Med,2014,6(240):240r-274r.
[32] Morel E,Manati AW,Nony P,et al.Blockade of the renin-angiotensin-aldosterone system in patients with arrhythmogenic right ventricular dysplasia:a double-blind ,multicenter,prospective,randomized,genotype-driven study (BRAVE study)[J].Clin Cardiol,2018,41(3):300-306.