The Many Faces of Arrhythmogenic Cardiomyopathy: An Overview

References

• Choudhary N, Tompkins C, Polonsky B, et al. Clinical presentation and outcomes by sex in arrhythmogenic right ventricular cardiomyopathy: findings from the North American ARVC Registry. J Cardiovasc Electrophysiol. 2016;27(5):555. doi:10.1111/JCE.12947
   PubMed Web of Science ®Google Scholar
• Calkins H, Corrado D, Marcus F. Risk Stratification in Arrhythmogenic Right Ventricular Cardiomyopathy. Circulation. 2017;136(21):2068–2082. doi:10.1161/CIRCULATIONAHA.117.030792
   PubMed Web of Science ®Google Scholar
• Peters S, Trümmel M, Meyners W. Prevalence of right ventricular dysplasia-cardiomyopathy in a non-referral hospital. Int J Cardiol. 2004;97(3):499–501. doi:10.1016/j.ijcard.2003.10.037
   PubMed Web of Science ®Google Scholar
• Dalal D, Nasir K, Bomma C, et al. Arrhythmogenic right ventricular dysplasia: a United States experience. Circulation. 2005;112(25):357–359. doi:10.1161/CIRCULATIONAHA.105.542266
   PubMed Web of Science ®Google Scholar
• Marcus FI, Fontaine GH, Guiraudon G, et al. Right ventricular dysplasia: a report of 24 adult cases. Circulation. 1982;65(2):384–398. doi:10.1161/01.CIR.65.2.384
   PubMed Web of Science ®Google Scholar
• Thiene G, Basso C. Arrhythmogenic right ventricular cardiomyopathy: an update. Cardiovasc Pathol. 2001;10(3):109–117. doi:10.1016/S1054-8807(01)00067-9
   PubMed Web of Science ®Google Scholar
• Jacob KA, Noorman M, Mgpj C, Groeneweg JA, Hauer RNW, van der Heyden MAG. Geographical distribution of plakophilin-2 mutation prevalence in patients with arrhythmogenic cardiomyopathy. Netherlands Heart J. 2012;20(5):234. doi:10.1007/S12471-012-0274-X
   PubMed Web of Science ®Google Scholar
• James CA, Jongbloed JDH, Hershberger RE, et al. International evidence based reappraisal of genes associated with arrhythmogenic right ventricular cardiomyopathy using the clinical genome resource framework. Circ Genomic Precis Med. 2021;14(3):E003273. doi:10.1161/CIRCGEN.120.003273
   PubMed Web of Science ®Google Scholar
• Towbin JA, McKenna WJ, Abrams DJ, et al. 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy. Heart Rhythm. 2019;16(11):e301–e372. doi:10.1016/J.HRTHM.2019.05.007
   PubMed Web of Science ®Google Scholar
• Brodehl A, Rezazadeh S, Williams T, et al. Mutations in ILK, encoding integrin linked kinase, are associated with arrhythmogenic cardiomyopathy. Transl Res. 2019;208:15. doi:10.1016/J.TRSL.2019.02.004
   PubMed Web of Science ®Google Scholar
• Abdelfatah N, Chen R, Duff HJ, et al. Characterization of a unique form of arrhythmic cardiomyopathy caused by recessive mutation in LEMD2. JACC Basic to Transl Sci. 2019;4(2):204. doi:10.1016/J.JACBTS.2018.12.001
   PubMedGoogle Scholar
• Goodwin RL, Koestler JL, Trask AJ, Lucchesi PA. Development of myocardial structure and function. In: Shaddy RE, Penny DJ, Feltes TF, editors. Moss and Adams’ Heart Disease in Infants, Children, and Adolescents. 10th; 2022.
   Google Scholar
• Landstrom AP, Kim JJ, Gelb BD, et al. Genetic testing for heritable cardiovascular diseases in pediatric patients: a scientific statement from the American Heart Association. Circ Genomic Precis Med. 2021;14(5):e000086. doi:10.1161/HCG.0000000000000086
   PubMed Web of Science ®Google Scholar
• Kapplinger JD, Landstrom AP, Salisbury BA, et al. Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise. J Am Coll Cardiol. 2011;57(23):2317–2327. doi:10.1016/J.JACC.2010.12.036
   PubMed Web of Science ®Google Scholar
• Awad MM, Calkins H, Judge DP. Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Nat Clin Pract Cardiovasc Med. 2008;5(5):258. doi:10.1038/NCPCARDIO1182
   PubMedGoogle Scholar
• Kowalczyk AP, Green KJ. Structure, function and regulation of Desmosomes. Prog Mol Biol Transl Sci. 2013;116:95. doi:10.1016/B978-0-12-394311-8.00005-4
   PubMed Web of Science ®Google Scholar
• Dries AM, Kirillova A, Reuter CM, et al. The genetic architecture of Plakophilin 2 cardiomyopathy. Genet Med. 2021;23(10):1961–1968. doi:10.1038/S41436-021-01233-7
   PubMed Web of Science ®Google Scholar
• Chen X, Bonné S, Hatzfeld M, van Roy F, Green KJ. Binding and Functional Characterization of Plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling. J Biol Chem. 2002;277(12):10512–10522. doi:10.1074/jbc.m108765200
   PubMed Web of Science ®Google Scholar
• Headrick AT, Rosenfeld JA, Yang Y, et al. Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy‐associated genes among children undergoing exome sequencing reflect healthy population variation. Mol Genet Genomic Med. 2019;7(6):593. doi:10.1002/MGG3.593
   Web of Science ®Google Scholar
• Xu T, Yang Z, Vatta M, et al. Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol. 2010;55(6):587. doi:10.1016/J.JACC.2009.11.020
   PubMed Web of Science ®Google Scholar
• Pohl GM, Göz M, Gaertner A, et al. Cardiomyopathy related desmocollin-2 prodomain variants affect the intracellular cadherin transport and processing. Front Cardiovasc Med. 2023;10:1127261. doi:10.3389/fcvm.2023.1127261
   PubMed Web of Science ®Google Scholar
• Syrris P, Ward D, Evans A, et al. Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. Am J Hum Genet. 2006;79(5):978–984. doi:10.1086/509122
   PubMed Web of Science ®Google Scholar
• Beffagna G, De Bortoli M, Nava A, et al. Missense mutations in desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro. BMC Med Genet. 2007;8. doi:10.1186/1471-2350-8-65
   PubMed Web of Science ®Google Scholar
• Bhuiyan ZA, Jongbloed JDH, Van Der Smagt J, et al. Desmoglein-2 and Desmocollin-2 Mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients. Circ Cardiovasc Genet. 2009;2(5):418–427. doi:10.1161/CIRCGENETICS.108.839829
   PubMedGoogle Scholar
• Brodehl A, Meshkov A, Myasnikov R, et al. Hemi‐ and homozygous loss‐of‐function mutations in dsg2 (Desmoglein‐2) cause recessive arrhythmogenic cardiomyopathy with an early onset. Int J Mol Sci. 2021;22(7):3786. doi:10.3390/IJMS22073786
   PubMed Web of Science ®Google Scholar
• Lorenzon A, Pilichou K, Rigato I, et al. Homozygous Desmocollin-2 mutations and arrhythmogenic cardiomyopathy. Am J Cardiol. 2015;116(8):1245–1251. doi:10.1016/J.AMJCARD.2015.07.037
   PubMed Web of Science ®Google Scholar
• Gerull B, Kirchner F, Chong JX, et al. Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population. Circ Cardiovasc Genet. 2013;6(4):327–336. doi:10.1161/CIRCGENETICS.113.000097
   PubMedGoogle Scholar
• Brodehl A, Weiss J, Debus JD, et al. A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy. J Mol Cell Cardiol. 2020;141:17–29. doi:10.1016/J.YJMCC.2020.03.006
   PubMed Web of Science ®Google Scholar
• Pilichou K, Nava A, Basso C, et al. Mutations in Desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. Circulation. 2006;113(9):1171–1179. doi:10.1161/CIRCULATIONAHA.105.583674
   PubMed Web of Science ®Google Scholar
• Casella M, Gasperetti A, Sicuso R, et al. Characteristics of patients with arrhythmogenic left ventricular cardiomyopathy: combining genetic and histopathologic findings. Circ Arrhythmia Electrophysiol. 2020;13(12):E009005. doi:10.1161/CIRCEP.120.009005
   PubMed Web of Science ®Google Scholar
• 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. Eur J Heart Fail. 2019;21(6):792–800. doi:10.1002/EJHF.1423
   PubMed Web of Science ®Google Scholar
• López-Ayala JM, Gómez-Milanés I, Muñoz JJ, et al. Desmoplakin truncations and arrhythmogenic left ventricular cardiomyopathy: characterizing a phenotype. EP Eur. 2014;16(12):1838–1846. doi:10.1093/EUROPACE/EUU128
   PubMed Web of Science ®Google Scholar
• Reza N, de Feria A, Chowns JL, et al. Cardiovascular characteristics of patients with genetic variation in Desmoplakin (DSP). Cardiogenetics. 2022;12(1):24–36. doi:10.3390/CARDIOGENETICS12010003
   PubMed Web of Science ®Google Scholar
• Sen-Chowdhry S, Syrris P, Ward D, Asimaki A, Sevdalis E, McKenna WJ. Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression. Circulation. 2007;115(13):1710–1720. doi:10.1161/CIRCULATIONAHA.106.660241
   PubMed Web of Science ®Google Scholar
• Castelletti S, Vischer AS, Syrris P, et al. Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: genotype-phenotype correlation. Int J Cardiol. 2017;249:268–273. doi:10.1016/J.IJCARD.2017.05.018
   PubMed Web of Science ®Google Scholar
• Singh SM, Casey SA, Berg AA, et al. Autosomal-dominant biventricular arrhythmogenic cardiomyopathy in a large family with a novel in-frame DSP nonsense mutation. Am J Med Genet A. 2018;176(7):1622–1626. doi:10.1002/AJMG.A.38719
   PubMed Web of Science ®Google Scholar
• Hoorntje ET, Burns C, Marsili L, et al. Variant location is a novel risk factor for individuals with arrhythmogenic cardiomyopathy due to a Desmoplakin (DSP) truncating variant. Circ Genomic Precis Med. 2022;16:e003672. doi:10.1161/CIRCGEN.121.003672
   PubMed Web of Science ®Google Scholar
• McKoy G, Protonotarios N, Crosby A, et al. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet (London, England). 2000;355(9221):2119–2124. doi:10.1016/S0140-6736(00)02379-5
   PubMed Web of Science ®Google Scholar
• Milting H, Klauke B, Christensen AH, et al. The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus. Eur Heart J. 2015;36(14):872–881. doi:10.1093/EURHEARTJ/EHU077
   PubMed Web of Science ®Google Scholar
• Merner ND, Hodgkinson KA, Haywood AFM, et al. Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. Am J Hum Genet. 2008;82(4):809–821. doi:10.1016/J.AJHG.2008.01.010
   PubMed Web of Science ®Google Scholar
• Dominguez F, Zorio E, Jimenez-Jaimez J, et al. Clinical characteristics and determinants of the phenotype in TMEM43 arrhythmogenic right ventricular cardiomyopathy type 5. Heart Rhythm. 2020;17(6):945–954. doi:10.1016/J.HRTHM.2020.01.035
   PubMed Web of Science ®Google Scholar
• Zheng G, Jiang C, Li Y, et al. TMEM43-S358L mutation enhances NF-κB-TGFβ signal cascade in arrhythmogenic right ventricular dysplasia/cardiomyopathy. Protein Cell. 2019;10(2):104. doi:10.1007/S13238-018-0563-2
   PubMed Web of Science ®Google Scholar
• Padrón-Barthe L, Villalba-Orero M, Gómez-Salinero JM, et al. Severe cardiac dysfunction and death caused by arrhythmogenic right ventricular cardiomyopathy type 5 are improved by inhibition of glycogen synthase kinase-3β. Circulation. 2019;140(14):1188–1204. doi:10.1161/CIRCULATIONAHA.119.040366
   PubMed Web of Science ®Google Scholar
• Zink M, Seewald A, Rohrbach M, et al. Altered expression of TMEM43 causes abnormal cardiac structure and function in zebrafish. Int J Mol Sci. 2022;23(17):9530. doi:10.3390/ijms23179530
   PubMed Web of Science ®Google Scholar
• Van Der Zwaag PA, Van Rijsingen IAW, Asimaki A, et al. Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. Eur J Heart Fail. 2012;14(11):1199–1207. doi:10.1093/EURJHF/HFS119
   PubMed Web of Science ®Google Scholar
• Sepehrkhouy S, Gho JMIH, van Es R, et al. Distinct fibrosis pattern in desmosomal and phospholamban mutation carriers in hereditary cardiomyopathies. Heart Rhythm. 2017;14(7):1024–1032. doi:10.1016/J.HRTHM.2017.03.034
   PubMed Web of Science ®Google Scholar
• Groeneweg JA, Van Der Zwaag PA, Olde Nordkamp LRA, et al. Arrhythmogenic right ventricular dysplasia/cardiomyopathy according to revised 2010 task force criteria with inclusion of non-desmosomal phospholamban mutation carriers. Am J Cardiol. 2013;112(8):1197–1206. doi:10.1016/J.AMJCARD.2013.06.017
   PubMed Web of Science ®Google Scholar
• Brodehl A, Hedde PN, Dieding M, et al. Dual color photoactivation localization microscopy of cardiomyopathy-associated Desmin mutants. J Biol Chem. 2012;287(19):16047. doi:10.1074/JBC.M111.313841
   PubMed Web of Science ®Google Scholar
• Brodehl A, Holler S, Gummert J, Milting H. The N-Terminal Part of the 1A domain of desmin is a hot spot region for putative pathogenic DES mutations affecting filament assembly. Cells. 2022;11(23):3906. doi:10.3390/CELLS11233906
   PubMed Web of Science ®Google Scholar
• Klauke B, Kossmann S, Gaertner A, et al. De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy. Hum Mol Genet. 2010;19(23):4595–4607. doi:10.1093/HMG/DDQ387
   PubMed Web of Science ®Google Scholar
• Protonotarios A, Brodehl A, Asimaki A, et al. The Novel Desmin Variant p.Leu115Ile is associated with a unique form of biventricular arrhythmogenic cardiomyopathy. Can J Cardiol. 2021;37(6):857–866. doi:10.1016/J.CJCA.2020.11.017
   PubMed Web of Science ®Google Scholar
• Bermúdez-Jiménez FJ, Carriel V, Brodehl A, et al. Novel Desmin Mutation p.Glu401Asp impairs filament formation, disrupts cell membrane integrity, and causes severe arrhythmogenic left ventricular cardiomyopathy/dysplasia. Circulation. 2018;137(15):1595–1610. doi:10.1161/CIRCULATIONAHA.117.028719
   PubMed Web of Science ®Google Scholar
• Maggi L, Mavroidis M, Psarras S, Capetanaki Y, Lattanzi G. Skeletal and cardiac muscle disorders caused by mutations in genes encoding intermediate filament proteins. Int J Mol Sci. 2021;22(8):4256. doi:10.3390/IJMS22084256
   PubMed Web of Science ®Google Scholar
• Brun F, Gigli M, Graw SL, et al. FLNC truncations cause arrhythmogenic right ventricular cardiomyopathy. J Med Genet. 2020;57(4):254. doi:10.1136/JMEDGENET-2019-106394
   PubMed Web of Science ®Google Scholar
• Gigli M, Stolfo D, Graw SL, et al. Phenotypic expression, natural history, and risk stratification of cardiomyopathy caused by Filamin C truncating variants. Circulation. 2021;144(20):1600–1611. doi:10.1161/CIRCULATIONAHA.121.053521
   PubMed Web of Science ®Google Scholar
• Ortiz-Genga MF, Cuenca S, Dal Ferro M, et al. Truncating FLNC mutations are associated with high-risk dilated and arrhythmogenic cardiomyopathies. J Am Coll Cardiol. 2016;68(22):2440–2451. doi:10.1016/J.JACC.2016.09.927
   PubMed Web of Science ®Google Scholar
• Carruth ED, Qureshi M, Alsaid A, et al. Loss-of-function FLNC variants are associated with arrhythmogenic cardiomyopathy phenotypes when identified through exome sequencing of a general clinical population. Circ Genomic Precis Med. 2022;15(4):278–286. doi:10.1161/CIRCGEN.121.003645
   Web of Science ®Google Scholar
• Hall CL, Akhtar MM, Sabater-Molina M, et al. Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype. Int J Cardiol. 2020;307:101–108. doi:10.1016/J.IJCARD.2019.09.048
   PubMed Web of Science ®Google Scholar
• Tucker NR, McLellan MA, Hu D, et al. Novel mutation in FLNC (Filamin C) causes familial restrictive cardiomyopathy. Circ Cardiovasc Genet. 2017;10(6). doi:10.1161/CIRCGENETICS.117.001780
   Google Scholar
• Brodehl A, Ferrier RA, Hamilton SJ, et al. Mutations in FLNC are associated with familial restrictive cardiomyopathy. Hum Mutat. 2016;37(3):269–279. doi:10.1002/HUMU.22942
   PubMed Web of Science ®Google Scholar
• Le QK, Maguy A, Qi XY, et al. Loss of cardiomyocyte integrin-linked kinase produces an Arrhythmogenic cardiomyopathy in mice. Circ Arrhythmia Electrophysiol. 2015;8(4):921–932. doi:10.1161/CIRCEP.115.001668
   PubMed Web of Science ®Google Scholar
• Thiene G, Nava A, Angelini A, Daliento L, Scognamiglio R, Corrado D. Anatomoclinical aspects of arrhythmogenic right ventricular cardiomyopathy. Adv Cardiomyopathies. 1990;397–408. doi:10.1007/978-3-642-83760-9_41
   Google Scholar
• Rootwelt-Norberg C, Lie ØH, Dejgaard LA, et al. Life-threatening arrhythmic presentation in patients with arrhythmogenic cardiomyopathy before and after entering the genomic era; a two-decade experience from a large volume center. Int J Cardiol. 2019;279:79–83. doi:10.1016/J.IJCARD.2018.12.066
   PubMed Web of Science ®Google Scholar
• Zhai L, Hu Y, Li X, et al. Incidence, predictors and clinical impact of ventricular electrical storm in Arrhythmogenic Cardiomyopathy patients with an implantable cardioverter-defibrillator: a single-center report with medium-term follow-up. Int J Gen Med. 2021;14:10055–10063. doi:10.2147/IJGM.S345872
   PubMed Web of Science ®Google Scholar
• Belhassen B, Laredo M, Roudijk RW, et al. The prevalence of left and right bundle branch block morphology ventricular tachycardia amongst patients with arrhythmogenic cardiomyopathy and sustained ventricular tachycardia: insights from the European Survey on Arrhythmogenic Cardiomyopathy. Europace. 2022;24(2):285–295. doi:10.1093/EUROPACE/EUAB190
   PubMed Web of Science ®Google Scholar
• Baturova MA, Haugaa KH, Jensen HK, et al. Atrial fibrillation as a clinical characteristic of arrhythmogenic right ventricular cardiomyopathy: experience from the Nordic ARVC Registry. Int J Cardiol. 2020;298:39–43. doi:10.1016/J.IJCARD.2019.07.086
   PubMed Web of Science ®Google Scholar
• D’Ascenzi F, Valentini F, Pistoresi S, et al. Causes of sudden cardiac death in young athletes and non-athletes: systematic review and meta-analysis: sudden cardiac death in the young. Trends Cardiovasc Med. 2022;32(5):299–308. doi:10.1016/J.TCM.2021.06.001
   PubMed Web of Science ®Google Scholar
• Finocchiaro G, Papadakis M, Robertus JL, et al. Etiology of sudden death in sports: insights from a United Kingdom Regional Registry. J Am Coll Cardiol. 2016;67(18):2108–2115. doi:10.1016/J.JACC.2016.02.062
   PubMed Web of Science ®Google Scholar
• Thiene G, Nava A, Corrado D, Rossi L, Pennelli N. Right ventricular cardiomyopathy and sudden death in young people. N Engl J Med. 1988;318(3):129–133. doi:10.1056/NEJM198801213180301
   PubMed Web of Science ®Google Scholar
• Miles C, Finocchiaro G, Papadakis M, et al. Sudden death and left ventricular involvement in Arrhythmogenic Cardiomyopathy. Circulation. 2019;139(15):1786–1797. doi:10.1161/CIRCULATIONAHA.118.037230
   PubMed Web of Science ®Google Scholar
• Isbister JC, Nowak N, Yeates L, et al. Concealed cardiomyopathy in autopsy-inconclusive cases of sudden cardiac death and implications for families. J Am Coll Cardiol. 2022;80(22):2057–2068. doi:10.1016/J.JACC.2022.09.029
   PubMed Web of Science ®Google Scholar
• Protonotarios N, Tsatsopoulou A. Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. Cardiovasc Pathol. 2004;13(4):185–194. doi:10.1016/J.CARPATH.2004.03.609
   PubMed Web of Science ®Google Scholar
• Polivka L, Bodemer C, Hadj-Rabia S. Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases. J Med Genet. 2016;53(5):289–295. doi:10.1136/JMEDGENET-2015-103403
   PubMed Web of Science ®Google Scholar
• Hylind R, Beauséjour-Ladouceur V, Plovanich ME, et al. Cardiocutaneous features of autosomal dominant Desmoplakin-associated arrhythmogenic cardiomyopathy. Circ Genomic Precis Med. 2020;13(6):E003081. doi:10.1161/CIRCGEN.120.003081
   PubMed Web of Science ®Google Scholar
• Maruthappu T, Posafalvi A, Castelletti S, et al. Loss of function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype. Br J Dermatol. 2019;180(5):1114. doi:10.1111/BJD.17388
   PubMed Web of Science ®Google Scholar
• Kirkels FP, Lie ØH, Cramer MJ, et al. Right ventricular functional abnormalities in arrhythmogenic cardiomyopathy: association with life-threatening ventricular arrhythmias. JACC Cardiovasc Imaging. 2021;14(5):900–910. doi:10.1016/J.JCMG.2020.12.028
   PubMed Web of Science ®Google Scholar
• Protonotarios A, Wicks E, Ashworth M, et al. Prevalence of 18F-fluorodeoxyglucose positron emission tomography abnormalities in patients with arrhythmogenic right ventricular cardiomyopathy. Int J Cardiol. 2019;284:99–104. doi:10.1016/J.IJCARD.2018.10.083
   PubMed Web of Science ®Google Scholar
• McKenna WJ, Thiene G, Nava A, et al. Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology. Br Heart J. 1994;71(3):215–218. doi:10.1136/HRT.71.3.215
   PubMedGoogle Scholar
• Marcus FI, McKenna WJ, Sherrill D, et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria. Eur Heart J. 2010;31(7):806. doi:10.1093/EURHEARTJ/EHQ025
   PubMed Web of Science ®Google Scholar
• Deshpande SR, Herman HK, Quigley PC, et al. Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D): review of 16 pediatric cases and a proposal of modified pediatric criteria. Pediatr Cardiol. 2016;37(4):646–655. doi:10.1007/S00246-015-1327-X
   PubMed Web of Science ®Google Scholar
• Gilotra NA, Bhonsale A, James CA, et al. Heart failure is common and under-recognized in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia. Circ Heart Fail. 2017;10(9). doi:10.1161/CIRCHEARTFAILURE.116.003819
   PubMed Web of Science ®Google Scholar
• Corrado D, Perazzolo Marra M, Zorzi A, et al. Diagnosis of arrhythmogenic cardiomyopathy: the Padua criteria. Int J Cardiol. 2020;319:106–114. doi:10.1016/j.ijcard.2020.06.005
   PubMed Web of Science ®Google Scholar
• Cicenia M, Cantarutti N, Adorisio R, et al. Arrhythmogenic cardiomyopathy in children according to “Padua criteria”: single pediatric center experience. Int J Cardiol. 2022;350:83–89. doi:10.1016/J.IJCARD.2022.01.008
   PubMed Web of Science ®Google Scholar
• De Lazzari M, Zorzi A, Cipriani A, et al. Relationship between electrocardiographic findings and cardiac magnetic resonance phenotypes in arrhythmogenic cardiomyopathy. J Am Heart Assoc. 2018;7(22). doi:10.1161/JAHA.118.009855
   Web of Science ®Google Scholar
• Platonov PG, Svensson A. Epsilon waves as an extreme form of depolarization delay: focusing on the arrhythmogenic right ventricular cardiomyopathy/dysplasia. Curr Cardiol Rev. 2021;17(1):17–23. doi:10.2174/1573403X16666200810105029
   PubMed Web of Science ®Google Scholar
• Protonotarios A, Anastasakis A, Tsatsopoulou A, et al. Clinical significance of epsilon waves in arrhythmogenic cardiomyopathy. J Cardiovasc Electrophysiol. 2015;26(11):1204–1210. doi:10.1111/JCE.12755
   PubMed Web of Science ®Google Scholar
• Pearman CM, Lee D, Davies B, et al. Incremental value of the signal-averaged ECG for diagnosing arrhythmogenic cardiomyopathy. Heart Rhythm. 2023;20(2):224–230. doi:10.1016/J.HRTHM.2022.10.005
   PubMed Web of Science ®Google Scholar
• de Brouwer R, Meems LMG, Verstraelen TE, et al. Sex-specific aspects of phospholamban cardiomyopathy: the importance and prognostic value of low-voltage electrocardiograms. Heart Rhythm. 2022;19(3):427–434. doi:10.1016/J.HRTHM.2021.11.009
   PubMed Web of Science ®Google Scholar
• Celeghin R, Cipriani A, Bariani R, et al. Filamin-C variant-associated cardiomyopathy: a pooled analysis of individual patient data to evaluate the clinical profile and risk of sudden cardiac death. Heart Rhythm. 2022;19(2):235–243. doi:10.1016/J.HRTHM.2021.09.029
   PubMed Web of Science ®Google Scholar
• Tadros HJ, Choudhry S, Kearney DL, et al. Arrhythmogenic cardiomyopathy is under-recognized in end-stage pediatric heart failure: a 36-year single-center experience. Pediatr Transplant. 2022. doi:10.1111/PETR.14442
   PubMed Web of Science ®Google Scholar
• Réant P, Hauer AD, Castelletti S, et al. Epicardial myocardial strain abnormalities may identify the earliest stages of arrhythmogenic cardiomyopathy. Int J Cardiovasc Imaging. 2016;32(4):593–601. doi:10.1007/S10554-015-0813-9
   PubMed Web of Science ®Google Scholar
• Chen S, Ren JF, Jiang C, Marchlinski FE. Intracardiac echocardiography-derived right ventricular myocardial strain deformation patterns with segmental dyssynchrony in arrhythmogenic cardiomyopathy. J Am Soc Echocardiogr. 2021;34(1):100–102. doi:10.1016/J.ECHO.2020.10.001
   PubMed Web of Science ®Google Scholar
• DeWitt ES, Chandler SF, Hylind RJ, et al. Phenotypic manifestations of arrhythmogenic cardiomyopathy in children and adolescents. J Am Coll Cardiol. 2019;74(3):346–358. doi:10.1016/J.JACC.2019.05.022
   PubMed Web of Science ®Google Scholar
• Riele ASJM T, James CA, Philips B, et al. Mutation positive arrhythmogenic right ventricular dysplasia/cardiomyopathy: the triangle of dysplasia displaced. J Cardiovasc Electrophysiol. 2013;24(12):1311. doi:10.1111/JCE.12222
   PubMed Web of Science ®Google Scholar
• Tandri H, Calkins H, Nasir K, et al. Magnetic resonance imaging findings in patients meeting task force criteria for arrhythmogenic right ventricular dysplasia. J Cardiovasc Electrophysiol. 2003;14(5):476–482. doi:10.1046/J.1540-8167.2003.02560.X
   PubMed Web of Science ®Google Scholar
• Perazzolo Marra M, Cipriani A, Rizzo S, et al. Myocardial tissue characterization in arrhythmogenic cardiomyopathy: comparison between endomyocardial biopsy and cardiac magnetic resonance. JACC Cardiovasc Imaging. 2021;14(8):1675–1678. doi:10.1016/J.JCMG.2021.02.015
   PubMedGoogle Scholar
• Sen-Chowdhry S, Prasad SK, Syrris P, et al. Cardiovascular magnetic resonance in arrhythmogenic right ventricular cardiomyopathy revisited: comparison with task force criteria and genotype. J Am Coll Cardiol. 2006;48(10):2132–2140. doi:10.1016/J.JACC.2006.07.045
   PubMed Web of Science ®Google Scholar
• Segura-Rodríguez D, Bermúdez-Jiménez FJ, Carriel V, et al. Myocardial fibrosis in arrhythmogenic cardiomyopathy: a genotype-phenotype correlation study. Eur Heart J Cardiovasc Imaging. 2020;21(4):378–386. doi:10.1093/EHJCI/JEZ277
   PubMed Web of Science ®Google Scholar
• Augusto JB, Eiros R, Nakou E, et al. Dilated cardiomyopathy and arrhythmogenic left ventricular cardiomyopathy: a comprehensive genotype-imaging phenotype study. Eur Heart J Cardiovasc Imaging. 2020;21(3):326–336. doi:10.1093/EHJCI/JEZ188
   PubMed Web of Science ®Google Scholar
• Amadu AM, Baritussio A, Dastidar AG, et al. Arrhythmogenic right ventricular cardiomyopathy (ARVC) mimics: the knot unravelled by cardiovascular MRI. Clin Radiol. 2019;74(3):228–234. doi:10.1016/J.CRAD.2018.12.002
   PubMed Web of Science ®Google Scholar
• Chun KH, Oh J, Hong YJ, et al. Prognostic cardiac magnetic resonance markers of left ventricular involvement in arrhythmogenic cardiomyopathy for predicting heart failure outcomes. J Am Heart Assoc. 2022;11(6):23167. doi:10.1161/JAHA.121.023167
   Web of Science ®Google Scholar
• Aquaro GD, De Luca A, Cappelletto C, et al. Prognostic value of magnetic resonance phenotype in patients with arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol. 2020;75(22):2753–2765. doi:10.1016/J.JACC.2020.04.023
   PubMed Web of Science ®Google Scholar
• Bariani R, Cipriani A, Rizzo S, et al. ‘Hot phase’ clinical presentation in arrhythmogenic cardiomyopathy. EP Eur. 2021;23(6):907–917. doi:10.1093/EUROPACE/EUAA343
   PubMed Web of Science ®Google Scholar
• Corrado D, Basso C, Thiene G, et al. Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: a multicenter study. J Am Coll Cardiol. 1997;30(6):1512–1520. doi:10.1016/S0735-1097(97)00332-X
   PubMed Web of Science ®Google Scholar
• Basso C, Thiene G, Corrado D, Angelini A, Nava A, Valente M. Arrhythmogenic right ventricular cardiomyopathy. Dysplasia, dystrophy, or myocarditis? Circulation. 1996;94(5):983–991. doi:10.1161/01.CIR.94.5.983
   PubMed Web of Science ®Google Scholar
• Magrath P, Maforo N, Renella P, Nelson SF, Halnon N, Ennis DB. Cardiac MRI biomarkers for Duchenne muscular dystrophy. Biomark Med. 2018;12(11):1271–1289. doi:10.2217/BMM-2018-0125
   PubMed Web of Science ®Google Scholar
• Sen-Chowdhry S, Syrris P, Prasad SK, et al. Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity. J Am Coll Cardiol. 2008;52(25):2175–2187. doi:10.1016/J.JACC.2008.09.019
   PubMed Web of Science ®Google Scholar
• Rimac G, Poulakos N, Beaulieu-Shearer A, et al. Clinical and echocardiographic evolution of patients with arrhythmogenic cardiomyopathy before heart transplantation. Clin Transplant. 2023;37(2). doi:10.1111/CTR.14869
   PubMed Web of Science ®Google Scholar
• Tavora F, Zhang M, Franco M, et al. Distribution of biventricular disease in arrhythmogenic cardiomyopathy: an autopsy study. Hum Pathol. 2012;43(4):592–596. doi:10.1016/J.HUMPATH.2011.06.014
   PubMed Web of Science ®Google Scholar
• Bariani R, Rigato I, Cipriani A, et al. Myocarditis-like episodes in patients with arrhythmogenic cardiomyopathy: a systematic review on the so-called hot-phase of the disease. Biomolecules. 2022;12(9):1324. doi:10.3390/BIOM12091324
   PubMed Web of Science ®Google Scholar
• Ollitrault P, Al Khoury M, Troadec Y, et al. Recurrent acute myocarditis: an under-recognized clinical entity associated with the later diagnosis of a genetic arrhythmogenic cardiomyopathy. Front Cardiovasc Med. 2022;9. doi:10.3389/FCVM.2022.998883
   PubMed Web of Science ®Google Scholar
• Piriou N, Marteau L, Kyndt F, et al. Familial screening in case of acute myocarditis reveals inherited arrhythmogenic left ventricular cardiomyopathies. ESC Heart Fail. 2020;7(4):1520–1533. doi:10.1002/EHF2.12686
   PubMed Web of Science ®Google Scholar
• Ruiz Salas A, Barrera Cordero A, Navarro-Arce I, et al. Impact of dynamic physical exercise on high-risk definite arrhythmogenic right ventricular cardiomyopathy. J Cardiovasc Electrophysiol. 2018;29(11):1523–1529. doi:10.1111/JCE.13704
   PubMed Web of Science ®Google Scholar
• James CA, Bhonsale A, Tichnell C, et al. Exercise increases age-related penetrance and arrhythmic risk in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. J Am Coll Cardiol. 2013;62(14):1290–1297. doi:10.1016/J.JACC.2013.06.033
   PubMed Web of Science ®Google Scholar
• Lie ØH, Dejgaard LA, Saberniak J, et al. Harmful Effects of Exercise Intensity and Exercise Duration in Patients With Arrhythmogenic Cardiomyopathy. JACC Clin Electrophysiol. 2018;4(6):744–753. doi:10.1016/J.JACEP.2018.01.010
   PubMedGoogle Scholar
• Ruwald AC, Marcus F, Estes NAM, et al. Association of competitive and recreational sport participation with cardiac events in patients with arrhythmogenic right ventricular cardiomyopathy: results from the North American multidisciplinary study of arrhythmogenic right ventricular cardiomyopathy. Eur Heart J. 2015;36(27):1735–1743. doi:10.1093/EURHEARTJ/EHV110
   PubMed Web of Science ®Google Scholar
• Pelliccia A, Sharma S, Gati S, et al. 2020 ESC Guidelines on sports cardiology and exercise in patients with cardiovascular disease. Eur Heart J. 2021;42(1):17–96. doi:10.1093/EURHEARTJ/EHAA605
   PubMed Web of Science ®Google Scholar
• Saberniak J, Hasselberg NE, Borgquist R, et al. Vigorous physical activity impairs myocardial function in patients with arrhythmogenic right ventricular cardiomyopathy and in mutation positive family members. Eur J Heart Fail. 2014;16(12):1337–1344. doi:10.1002/EJHF.181
   PubMed Web of Science ®Google Scholar
• Members WC, Ommen SR, Mital S, et al. 2020 AHA/ACC Guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy. Circulation. 2020;105(2):207–209. doi:10.1161/CIR.0000000000000937
   Google Scholar
• Sawant AC, Bhonsale A, te Riele ASJM, et al. Exercise has a disproportionate role in the pathogenesis of arrhythmogenic right ventricular dysplasia/cardiomyopathy in patients without desmosomal mutations. J Am Heart Assoc. 2014;3(6). doi:10.1161/JAHA.114.001471
   PubMed Web of Science ®Google Scholar
• Surget E, Maltret A, Raimondi F, et al. Clinical presentation and heart failure in children with arrhythmogenic cardiomyopathy. Circ Arrhythm Electrophysiol. 2022;15(2):e010346. doi:10.1161/CIRCEP.121.010346
   PubMed Web of Science ®Google Scholar
• Chungsomprasong P, Hamilton R, Luining W, Fatah M, Yoo SJ, Grosse-Wortmann L. Left ventricular function in children and adolescents with arrhythmogenic right ventricular cardiomyopathy. Am J Cardiol. 2017;119(5):778–784. doi:10.1016/J.AMJCARD.2016.11.020
   PubMed Web of Science ®Google Scholar
• Roudijk RW, Verheul L, Bosman LP, et al. Clinical characteristics and follow-up of pediatric-onset arrhythmogenic right ventricular cardiomyopathy. JACC Clin Electrophysiol. 2022;8(3):306–318. doi:10.1016/J.JACEP.2021.09.001
   PubMedGoogle Scholar
• Ermakov S, Scheinman M. Arrhythmogenic right ventricular cardiomyopathy – antiarrhythmic therapy. Arrhythmia Electrophysiol Rev. 2015;4(2):86. doi:10.15420/AER.2015.04.02.86
   PubMedGoogle Scholar
• van der Meer P, Gaggin HK, Dec GW. ACC/AHA versus ESC Guidelines on Heart Failure: JACC Guideline Comparison. J Am Coll Cardiol. 2019;73(21):2756–2768. doi:10.1016/J.JACC.2019.03.478
   PubMed Web of Science ®Google Scholar
• Chelko SP, Asimaki A, Andersen P, et al. Central role for GSK3β in the pathogenesis of arrhythmogenic cardiomyopathy. JCI Insight. 2016;1(5):85923. doi:10.1172/JCI.INSIGHT.85923
   PubMed Web of Science ®Google Scholar
• Dave J, Raad N, Mittal N, et al. Gene editing reverses arrhythmia susceptibility in humanized PLN-R14del mice: modelling a European cardiomyopathy with global impact. Cardiovasc Res. 2022;118(15):3140–3150. doi:10.1093/CVR/CVAC021
   PubMed Web of Science ®Google Scholar
• NCT03685149. Pilot Randomized Trial With Flecainide in ARVC Patients; 2018. Available from: https://clinicaltrials.gov/show/NCT03685149. Accessed May 1, 2023.
   Google Scholar