Revisiting the Newly Modified Criteria for Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D) and Reporting Newly Identified Genes

References

• Fontaine G, Guiraudon G, Frank R, et al. Stimulation studies and epicardial mapping in ventricular tachycardia: a study of mechanism and selection for surgery. In: Kulbertus HE, editor. Reentrant arrhythmias. Mechanisms and treatments. Lancaster, PA: MTP Press. 1977. p. 334–50.
   Google Scholar
• Corrado D, Basso C, Thiene G, McKenna WJ, Davies MJ, Fontaliran F, Nava A, Silvestri F, Blomstrom-Lundqvist C, Wlodarska EK, et al. Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: a multi-center study. J Am Coll Cardiol. 1997;30(6):1512–20. doi:10.1016/S0735-1097(97)00332-X.
   PubMed Web of Science ®Google Scholar
• Marcus FI, McKenna WJ, Sherrill D, Basso C, Bauce B, Bluemke DA, Calkins H, Corrado D, Cox MGPJ, Daubert JP, et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria. Eur Heart J. 2010;31(7):806–14. doi:10.1093/eurheartj/ehq025.
   PubMed Web of Science ®Google Scholar
• Rella V, Parati G, Crotti L. Sudden cardiac death in children affected by cardiomyopathies: an update on risk factors and indications at transvenous or subcutaneous implantable defibrillators. Front Pediatr. 2020;8:139. doi:10.3389/fped.2020.00139.
   PubMed Web of Science ®Google Scholar
• Elias Neto J, Tonet J, Frank R, Fontaine G. Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D) - What we have learned after 40 years of the diagnosis of this clinical entity [published correction appears in Arq Bras Cardiol. 2019].
   Google Scholar
• Deshpande SR, Herman HK, Quigley PC, Shinnick JK, Cundiff CA, Caltharp S, Shehata BM. Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D): review of 16 pediatric cases and a proposal of modified pediatric criteria. Pediatr Cardiol. 2016;37(4):646–55. doi:10.1007/s00246-015-1327-x.
   PubMed Web of Science ®Google Scholar
• Gandjbakhch E, Redheuil A, Pousset F, Charron P, Frank R. Clinical diagnosis, imaging, and genetics of arrhythmogenic right ventricular cardiomyopathy/dysplasia: JACC state-of-the-art review. J Am Coll Cardiol. 2018;72(7):784–804. doi:10.1016/j.jacc.2018.05.065.
   PubMed Web of Science ®Google Scholar
• Campuzano O, Alcalde M, Berne P, Castro V, Guzzo G, Iglesias A, Alonso-Pulpon L, Garcia-Pavia P, Brugada J, Brugada R, et al. Genetic testing of candidate genes in ­arrhythmogenic right ventricular cardiomyopathy/dysplasia. Eur J Med Genet. 2012;55(4):225–34. doi:10.1016/j.ejmg.2012.02.007.
   PubMed Web of Science ®Google Scholar
• Te Riele ASJM, James CA, Sawant AC, Bhonsale A, Groeneweg JA, Mast TP, Murray B, Tichnell C, Dooijes D, van Tintelen JP, et al. Arrhythmogenic right ventricular dysplasia/cardiomyopathy in the pediatric population: clinical characterization and comparison with adult-onset disease. JACC ClinElectrophysiol. 2015;1(6):551–60. doi:10.1016/j.jacep.2015.08.004.
   PubMedGoogle Scholar
• Asimaki A, Kleber AG, Saffitz JE. Pathogenesis of arrhythmogenic cardiomyopathy. Can J Cardiol. 2015;31(11):1313–24. doi:10.1016/j.cjca.2015.04.012.
   PubMed Web of Science ®Google Scholar
• Indik JH, Marcus FI. Arrhythmogenic right ventricular cardiomyopathy/dysplasia. Indian Pacing Electrophysiol J. 2003;3(3):148–56. Published 2003 Jul 1.
   PubMedGoogle Scholar
• Rampazzo A, Beffagna G, Nava A, Occhi G, Bauce B, Noiato M, Basso C, Frigo G, Thiene G, Towbin J, et al. Arrhythmogenic right ventricular cardiomyopathy type 1 (ARVD1): confirmation of locus assignment and mutation screening of four candidate genes. Eur J Hum Genet. 2003;11(1):69–76. doi:10.1038/sj.ejhg.5200914.
   PubMed Web of Science ®Google Scholar
• Pilmer CM, Kirsh JA, Hildebrandt D, Krahn AD, Gow RM. Sudden cardiac death in children and adolescents between 1 and 19 years of age. Heart Rhythm. 2014;11(2):239–45. Epub 2013 Nov 13 doi:10.6/j.hrthm.2013.11.006.
   Google Scholar
• Severini GM, Krajinovic M, Pinamonti B, Sinagra G, Fioretti P, Brunazzi MC, Falaschi A, Camerini F, Giacca M, Mestroni L. A new locus for arrhythmogenic right ventricular dysplasia on the long arm of chromosome 14. Genomics. 1996;31(2):193–200. doi:10.1006/geno.1996.0031.
   PubMed Web of Science ®Google Scholar
• Rampazzo A, Nava A, Miorin M, Fonderico P, Pope B, Tiso N, Livolsi B, Zimbello R, Thiene G, Danieli GA. ARVD4, a new locus for arrhythmogenic right ventricular cardiomyopathy, maps to chromosome 2 long arm. Genomics. 1997;45(2):259–63. doi:10.1006/geno.1997.4927.
   PubMed Web of Science ®Google Scholar
• Ahmad F, Li D, Karibe A, Gonzalez O, Tapscott T, Hill R, Weilbaecher D, Blackie P, Furey M, Gardner M, et al. Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23. Circulation. 1998;98(25):2791–5. doi:10.1161/01.cir.98.25.2791.
   PubMed Web of Science ®Google Scholar
• Li D, Ahmad F, Gardner MJ, Weilbaecher D, Hill R, Karibe A, Gonzalez O, Tapscott T, Sharratt GP, Bachinski LL, et al. The locus of a novel gene responsible for arrhythmogenic right-ventricular dysplasia characterized by early onset and high penetrance maps to chromosome 10p12-p14. Am J Hum Gene. 2000;66(1):148–56. doi:10.1086/302713.
   PubMed Web of Science ®Google Scholar
• Hedberg C, Melberg A, Kuhl A, Jenne D, Oldfors A. Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation. Eur J Hum Genet. 2012;20(9):984–5. doi:10.1038/ejhg.2012.39.
   PubMed Web of Science ®Google Scholar
• Rampazzo A, Nava A, Malacrida S, Beffagna G, Bauce B, Rossi V, Zimbello R, Simionati B, Basso C, Thiene G, 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(5):1200–6. doi:10.1086/344208.
   PubMed Web of Science ®Google Scholar
• Bonne S, van Hengel J, van Roy F. Chromosomal mapping of human armadillo genes belonging to the p120(ctn)/plakophilin subfamily. Genomics. 1998;51(3):452–4. doi:10.1006/geno.1998.5398
   PubMed Web of Science ®Google Scholar
• Arnemann J, Spurr NK, Magee AI, Buxton RS. The human gene (DSG2) coding for HDGC, a second member of the desmoglein subfamily of the desmosomal cadherins, is, like DSG1 coding for desmoglein DGI, assigned to chromosome 18. Genomics. 1992;13(2):484–6. doi:10.1016/0888-7543(92)90280-6.
   PubMed Web of Science ®Google Scholar
• Buxton RS, Wheeler GN, Pidsley SC, Marsden MD, Adams MJ, Jenkins NA, Gilbert DJ, Copeland NG. Mouse desmocollin (Dsc3) and desmoglein (Dsg1) genes are closely linked in the proximal region of chromosome 18. Genomics. 1994;21(3):510–6. doi:10.1006/geno.1994.1309.
   PubMed Web of Science ®Google Scholar
• Aberle H, Bierkamp C, Torchard D, Serova O, Wagner T, Natt E, Wirsching J, Heidkamper C, Montagna M, Lynch HT. The human plakoglobin gene localizes on chromosome 17q21 and is subjected to loss of heterozygosity in breast and ovarian cancers. Proc Natl Acad Sci U S A. 1995;92(14):6384–8. doi:10.1073/pnas.92.14.6384.
   PubMed Web of Science ®Google Scholar
• van Hengel J, Calore M, Bauce B, Dazzo E, Mazzotti E, De Bortoli M, Lorenzon A, Li Mura IEA, Beffagna G, Rigato I, et al. Mutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy. Eur Heart J. 2013;34(3):201–10. doi:10.1093/eurheartj/ehs373.
   PubMed Web of Science ®Google Scholar
• Mayosi BM, Fish M, Shaboodien G, et al. Identification of cadherin 2 (CDH2) mutations in arrhythmogenic right ventricular cardiomyopathy. CircCardiovasc Genet. 2017;10:e001605.
   PubMedGoogle Scholar
• Quarta G, Syrris P, Ashworth M, Jenkins S, Zuborne Alapi K, Morgan J, Muir A, Pantazis A, McKenna WJ, Elliott PM, et al. Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy. Eur Heart J. 2012;33(9):1128–36. doi:10.1093/eurheartj/ehr451.
   PubMed Web of Science ®Google Scholar
• Taylor M, Graw S, Sinagra G, Barnes C, Slavov D, Brun F, Pinamonti B, Salcedo EE, Sauer W, Pyxaras S, et al. Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes. Circulation. 2011;124(8):876–85. doi:10.1161/CIRCULATIONAHA.110.005405.
   PubMed Web of Science ®Google Scholar
• van der Zwaag PA, van Rijsingen IAW, Asimaki A, Jongbloed JDH, van Veldhuisen DJ, Wiesfeld ACP, Cox MGPJ, van Lochem LT, de Boer RA, Hofstra RMW, 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):1199–207. doi:10.1093/eurjhf/hfs119.
   PubMed Web of Science ®Google Scholar
• Yu J, Hu J, Dai X, Cao Q, Xiong Q, Liu X, Liu X, Shen Y, Chen Q, Hua W, et al. SCN5A mutation in Chinese patients with arrhythmogenic right ventricular dysplasia. Herz. 2014;39(2):271–5. doi:10.1007/s00059-013-3998-5.
   PubMed Web of Science ®Google Scholar
• Valenzise M, Arrigo T, De Luca F, Privitera A, Frigiola A, Carando A, Garelli E, Silengo M. R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy. Eur J Med Genet. 2008;51(5):497–500. doi:10.1016/j.ejmg.2008.05.005.
   PubMed Web of Science ®Google Scholar
• Sattar Y, Abdullah HM, Neisani Samani E, Myla M, Ullah W. Arrhythmogenic right ventricular cardiomyopathy/dysplasia: an updated review of diagnosis and management. Cureus. 2019;11(8):e5381. doi:10.7759/cureus.5381.
   PubMed Web of Science ®Google Scholar
• Carvajal-Huerta L. Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. J Am Acad Dermatol. 1998;39(3):418–21. doi:10.1016/s0190-9622(98)70317-2.
   PubMed Web of Science ®Google Scholar
• Li KHC, Bazoukis G, Liu T, Li G, Wu WKK, Wong SH, Wong WT, Chan YS, Wong MCS, Wassilew K, et al. Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) in clinical practice. J Arrhythmia. 2018;34(1):11–22. doi:10.1002/joa3.12021.
   PubMed Web of Science ®Google Scholar
• Etoom Y, Govindapillai S, Hamilton R, Manlhiot C, Yoo S-J, Farhan M, Sarikouch S, Peters B, McCrindle BW, Grosse-Wortmann L, et al. Importance of CMR within the task force criteria for the diagnosis of ARVC in children and adolescents. J Am Coll Cardiol. 2015;65(10):987–95. doi:10.1016/j.jacc.2014.12.041.
   PubMed Web of Science ®Google Scholar
• Diana K, Carlos RA, Janet P, et al. Pediatric right ventricular cardiac steatosis following immunosuppressive treatment. Fetal Pediatr Pathol. 2020. doi:10.1080/15513815.2020.1728792.
   Google Scholar
• Anderson EL. Arrhythmogenic right ventricular dysplasia. Am Fam Physician. 2006;73(8):1391–8.
   PubMed Web of Science ®Google Scholar
• Khaji A, Zhang L, Kowey P, Martinez-Lage M, Kocovic D. Mega epsilon waves on 12-lead ECG just another case of arrhythmogenic right ventricular dysplasia/cardiomyopathy? J Electrocardiol. 2013;46(6):524–7. doi:10.1016/j.jelectrocard.2013.08.007.
   PubMed Web of Science ®Google Scholar
• Slesnick T, Parks WJ, Poulik J, Al-Haddad E, Vickery J, Eskarous H, Youssef L, Mangal R, Shehata BM. Cardiac magnetic resonance imaging macroscopic fibro-fatty infiltration of the myocardium in pediatric patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia. Fetal Pediatr Pathol. 2020;39(6):455–66. doi:10.1080/15513815.2019.1675108.
   PubMed Web of Science ®Google Scholar