Smith ED, Lakdawala NK, Papoutsidakis N, Aubert G, Mazzanti A, McCanta AC, Agarwal PP, Arscott P, Dellefave-Castillo LM, Vorovich EE, Nutakki K, Wilsbacher LD, Priori SG, Jacoby DL, McNally EM, Helms AS. Desmoplakin Cardiomyopathy, a fibrotic and inflammatory form of cardiomyopathy distinct from typical dilated or arrhythmogenic right ventricular cardiomyopathy. Circulation 2020;141(23):1872–84. https://doi.org/10.1161/CIRCULATIONAHA.119.044934.

Bauce B, Basso C, Rampazzo A, Beffagna G, Daliento L, Frigo G, Malacrida S, Settimo L, Danieli G, Thiene G, Nava A. Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations. Eur Heart J. 2005;26:1666–75.

Article  CAS  PubMed  Google Scholar 

López-Ayala JM, Gómez-Milanés I, Sánchez Muñoz JJ, Ruiz-Espejo F, Ortíz M, González-Carrillo J, López-Cuenca D, Oliva-Sandoval MJ, Monserrat L, Valdés M, Gimeno JR. Desmoplakin truncations and arrhythmogenic left ventricular cardiomyopathy: characterizing a phenotype. EP Europace. 2014;16:1838–46.

Article  PubMed  Google Scholar 

Gasperetti A, Carrick R, Protonotarios A, Laredo M, Van Der Schaaf I, Syrris P, Murray B, Tichnell C, Cappelletto C, Gigli M, Medo K, Crabtree P, Saguner AM, Duru F, Hylind R, Abrams D, Lakdawala NK, Massie C, Cadrin-Tourigny J, Targetti M, Olivotto I, Graziosi M, Cox M, Biagini E, Charron P, Casella M, Tondo C, Yazdani M, Ware JS, Prasad S, Calò L, Smith E, Helms A, Hespe S, Ingles J, Tandri H, Ader F, Mestroni L, Wilde A, Merlo M, Gandjbakhch E, Calkins H, Van Tintelen J, Elliot P, James CA. Long-term arrhythmic follow-up and risk stratification of patients with desmoplakin-associated arrhythmogenic right ventricular cardiomyopath. JACC: Adv. 2024;3:100832.

PubMed  Google Scholar 

Bariani R, Cason M, Rigato I, Cipriani A, Celeghin R, De Gaspari M, Bueno Marinas M, Mattesi G, Pergola V, Rizzo S, Zorzi A, Giorgi B, Rampazzo A, Thiene G, Iliceto S, Perazzolo Marra M, Corrado D, Basso C, Pilichou K, Bauce B. Clinical profile and long-term follow-up of a cohort of patients with desmoplakin cardiomyopathy. Heart Rhythm. 2022;19:1315–24.

Article  PubMed  Google Scholar 

Protonotarios A, Bariani R, Cappelletto C, Pavlou M, García-García A, Cipriani A, Protonotarios I, Rivas A, Wittenberg R, Graziosi M, Xylouri Z, Larrañaga-Moreira JM, de Luca A, Celeghin R, Pilichou K, Bakalakos A, Lopes LR, Savvatis K, Stolfo D, Dal Ferro M, Merlo M, Basso C, Freire JL, Rodriguez-Palomares JF, Kubo T, Ripoll-Vera T, Barriales-Villa R, Antoniades L, Mogensen J, Garcia-Pavia P, Wahbi K, Biagini E, Anastasakis A, Tsatsopoulou A, Zorio E, Gimeno JR, Garcia-Pinilla JM, Syrris P, Sinagra G, Bauce B, Elliott PM. Importance of genotype for risk stratification in arrhythmogenic right ventricular cardiomyopathy using the 2019 ARVC risk calculator. Eur Heart J 2022;43(32):3053–67. https://doi.org/10.1093/eurheartj/ehac235.

Gasperetti A, James CA, Carrick RT, Protonotarios A, Te Riele ASJM, Cadrin-Tourigny J, Compagnucci P, Duru F, Van Tintelen P, Elliot PM, Calkins H. Arrhythmic risk stratification in arrhythmogenic right ventricular cardiomyopathy. Europace. 2023;25: euad312.

Article  PubMed  PubMed Central  Google Scholar 

Akdis D, Saguner AM, Shah K, Wei C, Medeiros-Domingo A, von Eckardstein A, Lüscher TF, Brunckhorst C, Chen HSV, Duru F. Sex hormones affect outcome in arrhythmogenic right ventricular cardiomyopathy/dysplasia: from a stem cell derived cardiomyocyte-based model to clinical biomarkers of disease outcome. Eur Heart J. 2017;38:1498–508.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Carrick RT, Gasperetti A, Protonotarios A, Murray B, Laredo M, Van Der Schaaf I, Dooijes D, Syrris P, Cannie D, Tichnell C, Gilotra NA, Cappelletto C, Medo K, Saguner AM, Duru F, Hylind RJ, Abrams DJ, Lakdawala NK, Cadrin-Tourigny J, Targetti M, Olivotto I, Graziosi M, Cox M, Biagini E, Charron P, Compagnucci P, Casella M, Conte G, Tondo C, Yazdani M, Ware JS, Prasad SK, Calò L, Smith ED, Helms AS, Hespe S, Ingles J, Tandri H, Ader F, Peretto G, Peters S, Horton A, Yao J, Schulze-Bahr E, Dittman S, Carruth ED, Young K, Qureshi M, Haggerty C, Parikh VN, Taylor M, Mestroni L, Wilde A, Sinagra G, Merlo M, Gandjbakhch E, Van Tintelen JP, Te Riele ASJM, Elliott P, Calkins H, Wu KC, James CA. A novel tool for arrhythmic risk stratification in desmoplakin gene variant carriers. Eur Heart J 2024;45(32):2968–79. https://doi.org/10.1093/eurheartj/ehae409.

Akinrinade O, Lesurf R, Genomics England Research Consortium, Ambrose JC, Arumugam P, Bleda M, Boardman-Pretty F, Boustred CR, Brittain H, Caulfield MJ, Chan GC, Fowler T, Giess A, Hamblin A, Henderson S, Hubbard TJP, Jackson R, Jones LJ, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Leigh SEA, Leong IUS, Lopez FJ, Maleady-Crowe F, Moutsianas L, Mueller M, Murugaesu N, Need AC, O‘Donovan P, Odhams CA, Patch C, Perez-Gil D, Pereira MB, Pullinger J, Rahim T, Rendon A, Rogers T, Savage K, Sawant K, Scott RH, Siddiq A, Sieghart A, Smith SC, Sosinsky A, Stuckey A, Tanguy M, Thomas ERA, Thompson SR, Tucci A, Walsh E, Welland MJ, Williams E, Witkowska K, Wood SM, Lougheed J, Mondal T, Smythe J, Altamirano-Diaz L, Oechslin E, Mital S. Age and sex differences in the Genetics of Cardiomyopathy. J Cardiovasc Trans Res. 2023;16:1287–302.

Article  Google Scholar 

Wang W, Murray B, Tichnell C, Gilotra NA, Zimmerman SL, Gasperetti A, Scheel P, Tandri H, Calkins H, James CA. Clinical characteristics and risk stratification of desmoplakin cardiomyopathy. EP Europace 2022;24(2):268–77. https://doi.org/10.1093/europace/euab183.

Reichl K, Kreykes SE, Martin CM, Shenoy C. Desmoplakin Variant-Associated Arrhythmogenic Cardiomyopresentingenting as Acute Myocarditis. Circ: Genomic Precision Med. 2018;11:e002373.

Google Scholar 

Lota AS, Hazebroek MR, Theotokis P, Wassall R, Salmi S, Halliday BP, Tayal U, Verdonschot J, Meena D, Owen R, de Marvao A, Iacob A, Yazdani M, Hammersley DJ, Jones RE, Wage R, Buchan R, Vivian F, Hafouda Y, Noseda M, Gregson J, Mittal T, Wong J, Robertus JL, Baksi AJ, Vassiliou V, Tzoulaki I, Pantazis A, Cleland JGF, Barton PJR, Cook SA, Pennell DJ, Garcia-Pavia P, Cooper LT, Heymans S, Ware JS, Prasad SK. Genetic Architecture of Acute myocarditis and the Overlap with inherited cardiomyopathy. Circulation. 2022;146:1123–34.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lopez-Ayala JM, Pastor-Quirante F, Gonzalez-Carrillo J, Lopez-Cuenca D, Sanchez-Munoz JJ, Oliva-Sandoval MJ, Gimeno JR. Genetics of myocarditis in arrhythmogenic right ventricular dysplasia. Heart Rhythm. 2015;12:766–73.

Article  PubMed  Google Scholar 

Rezaei Bookani K, Minga I, Wodskow J, Harris J, Gordon R, Sarswat N, Pursnani A. A case series of desmoplakin cardiomyopathy: a mimic of viral myocarditis. Eshtehardi P, Van De Sande D, Adam Batty J, Vidal-Perez R, McNaughton E, Senior J, editors. Eur. Heart J.- Case Reports. 2022;6:ytac341.

Gasperetti A, Carrick RT, Protonotarios A, Murray B, Laredo M, Van Der Schaaf I, Lekanne RH, Syrris P, Cannie D, Tichnell C, Cappelletto C, Gigli M, Medo K, Saguner AM, Duru F, Gilotra NA, Zimmerman S, Hylind R, Abrams DJ, Lakdawala NK, Cadrin-Tourigny J, Targetti M, Olivotto I, Graziosi M, Cox M, Biagini E, Charron P, Casella M, Tondo C, Yazdani M, Ware JS, Prasad SK, Calò L, Smith ED, Helms AS, Hespe S, Ingles J, Tandri H, Ader F, Peretto G, Peters S, Horton A, Yao J, Dittmann S, Schulze-Bahr E, Qureshi M, Young K, Carruth ED, Haggerty C, Parikh VN, Taylor M, Mestroni L, Wilde A, Sinagra G, Merlo M, Gandjbakhch E, Van Tintelen JP, Te Riele ASJM, Elliott PM, Calkins H, James CA. Clinical features and outcomes in carriers of pathogenic desmoplakin variants. Eur Heart J 2024:ehae571. https://doi.org/10.1093/eurheartj/ehae571.

Bariani R, Cipriani A, Rizzo S, Celeghin R, Bueno Marinas M, Giorgi B, De Gaspari M, Rigato I, Leoni L, Zorzi A, De Lazzari M, Rampazzo A, Iliceto S, Thiene G, Corrado D, Pilichou K, Basso C, Perazzolo Marra M, Bauce B. ‘Hot phase’ clinical presentation in arrhythmogenic cardiomyopathy. EP Europace. 2021;23:907–17.

Article  Google Scholar 

Asatryan B, Asimaki A, Landstrom AP, Khanji MY, Odening KE, Cooper LT, Marchlinski FE, Gelzer AR, Semsarian C, Reichlin T, Owens AT, Chahal CAA. Inflammation and immune response in arrhythmogenic cardiomyopathy: state-of-the-art review. Circulation. 2021;144:1646–55.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Casella M, Bergonti M, Dello Russo A, Maragna R, Gasperetti A, Compagnucci P, Catto V, Trombara F, Frappampina A, Conte E, Fogante M, Sommariva E, Rizzo S, De Gaspari M, Giovagnoni A, Andreini D, Pompilio G, Di Biase L, Natale A, Basso C, Tondo C. Endomyocardial biopsy: the forgotten piece in the arrhythmogenic cardiomyopathy puzzle. JAHA. 2021;10: e021370.

Article  PubMed  PubMed Central  Google Scholar 

Towbin JA, McKenna WJ, Abrams DJ, Ackerman MJ, Calkins H, Darrieux FCC, Daubert JP, de Chillou C, DePasquale EC, Desai MY, Estes NAM, Hua W, Indik JH, Ingles J, James CA, John RM, Judge DP, Keegan R, Krahn AD, Link MS, Marcus FI, McLeod CJ, Mestroni L, Priori SG, Saffitz JE, Sanatani S, Shimizu W, van Peter J, Wilde AAM, Zareba W. HRS Expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy. Heart Rhythm. 2019;16(11):e301–72. https://doi.org/10.1016/j.hrthm.2019.05.007.

Selgrade DF, Fullenkamp DE, Chychula IA, Li B, Dellefave-Castillo L, Dubash AD, Ohiri J, Monroe TO, Blancard M, Tomar G, Holgren C, Burridge PW, George AL, Demonbreun AR, Puckelwartz MJ, George SA, Efimov IR, Green KJ, McNally EM. Susceptibility to innate immune activation in genetically mediated myocarditis. J Clin Invest. 2024;134: e180254.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Scheel PJ, Murray B, Tichnell C, James CA, Tandri H, Calkins H, Chelko SP, Gilotra NA. Arrhythmogenic right ventricular cardiomyopathy presenting as clinical myocarditis in women. Am J Cardiol. 2021;145:128–34.

Article  PubMed  Google Scholar 

Bariani R, Rigato I, Cipriani A, Bueno Marinas M, Celeghin R, Basso C, Corrado D, Pilichou K, Bauce B. Myocarditis-like episodes in patients with arrhythmogenic cardiomyopathy: a systematic review on the so-called hot-phase of the disease. Biomolecules. 2022;12: 1324.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Protonotarios A, Wicks E, Ashworth M, Stephenson E, Guttmann O, Savvatis K, Sekhri N, Mohiddin SA, Syrris P, Menezes L, Elliott P. Prevalence of 18F-fluorodeoxyglucose positron emission tomography abnormalities in patients with arrhythmogenic right ventricular cardiomyopathy. Int J Cardiol. 2019;284:99–104.

Article  PubMed  Google Scholar 

Neves R, Tseng AS, Garmany R, Fink AL, McLeod CJ, Cooper LT, MacIntyre CJ, Homb AC, Rosenbaum AN, Bois JP, Abou Ezzeddine OF, Siontis KC, Pereira NL, Ackerman MJ, Giudicessi JR. Cardiac fludeoxyglucose-18 positron emission tomography in genotype-positive arrhythmogenic cardiomyopathy. Int J Cardiol. 2023;389: 131173.

Article  PubMed  Google Scholar 

Basso C, Thiene G, Corrado D, Angelini A, Nava A, Valente M. Arrhythmogenic right ventricular cardiomyopathy. Dysplasia, dystrophy, or myocarditis? Circulation. 1996;94:983–91.

Article  CAS  PubMed  Google Scholar 

Asimaki A, Tandri H, Duffy ER, Winterfield JR, Mackey-Bojack S, Picken MM, Cooper LT, Wilber DJ, Marcus FI, Basso C, Thiene G, Tsatsopoulou A, Protonotarios N, Stevenson WG, McKenna WJ, Gautam S, Remick DG, Calkins H, Saffitz JE. Altered desmosomal proteins in granulomatous myocarditis and potential pathogenic links to arrhythmogenic right ventricular cardiomyopathy. Circ Arrhythm Electrophysiol. 2011;4:743–52.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chatterjee D, Fatah M, Akdis D, Spears DA, Koopmann TT, Mittal K, Rafiq MA, Cattanach BM, Zhao Q, Healey JS, Ackerman MJ, Bos JM, Sun Y, Maynes JT, Brunckhorst C, Medeiros-Domingo A, Duru F, Saguner AM, Hamilton RM. An autoantibody identifies arrhythmogenic right ventricular cardiomyopathy and participates in its pathogenesis. Eur Heart J. 2018;39:3932–44.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Caforio ALP, Re F, Avella A, Marcolongo R, Baratta P, Seguso M, Gallo N, Plebani M, Izquierdo-Bajo A, Cheng C-Y, Syrris P, Elliott PM, Amati GD, Thiene G, Basso C, Gregori D, Iliceto S, Zachara E. Evidence from Family studies for Autoimmunity in Arrhythmogenic Right Ventricular Cardiomyopathy: associations of circulating Anti-heart and Anti-intercalated Disk Autoantibodies with Disease Severity and Family History. Circulation. 2020;141:1238–48.

Article  PubMed  Google Scholar 

Garcia-Gras E, Lombardi R, Giocondo MJ, Willerson JT, Schneider MD, Khoury DS, Marian AJ. Suppression of canonical Wnt/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy. J Clin Invest. 2006;116:2012–21.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lyon RC, Mezzano V, Wright AT, Pfeiffer E, Chuang J, Banares K, Castaneda A, Ouyang K, Cui L, Contu R, Gu Y, Evans SM, Omens JH, Peterson KL, McCulloch AD, Sheikh F. Connexin defects underlie arrhythmogenic right ventricular cardiomyopathy in a novel mouse model. Hum Mol Genet. 2014;23:1134–50.

Article