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ARVD/C and Genetics

  • Te Rijdt WP, Jongbloed JD, de Boer RA, Thiene G, Basso C, van den Berg MP, van Tintelen JP. Clinical utility gene card for: arrhythmogenic right ventricular cardiomyopathy (ARVC). Eur J Hum Genet. 2014 Feb;22(2). No abstract available.

  • Lodder EM, Bezzina CR. Arrhythmogenic right ventricular cardiomyopathy: growing evidence for complex inheritance. Circ Cardiovasc Genet. 2013 Dec;6(6):525-7. 

  • Baskin B, Skinner JR, Sanatani S, Terespolsky D, Krahn AD, Ray PN, Scherer SW, Hamilton RM. TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations. Hum Genet. 2013 Nov;132(11):1245-52. 

  • Valtuille L, Paterson I, Kim DH, Mullen J, Sergi C, Oudit GY. A case of lamin A/C mutation cardiomyopathy with overlap features of ARVC: a critical role of genetic testing. Int J Cardiol. 2013 Oct 9;168(4):4325-7. 

  • Bhonsale A, James CA, Tichnell C, Murray B, Madhavan S, Philips B, Russell SD, Abraham T, Tandri H, Judge DP, Calkins H. Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. Circ Arrhythm Electrophysiol. 2013 Jun;6(3):569-78. 

  • Murray B, Wagle R, Amat-Alarcon N, Wilkens A, Stephens P, Zackai EH, Goldmuntz E, Calkins H, Deardorff MA, Judge DP. A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome. Am J Med Genet A. 2013 Feb;161A(2):371-6. 

  • van der Zwaag PA, van Rijsingen IA, Asimaki A, Jongbloed JD, van Veldhuisen DJ, Wiesfeld AC, Cox MG, van Lochem LT, de Boer RA, Hofstra RM, Christiaans I, van Spaendonck-Zwarts KY, Lekanne dit Deprez RH, Judge DP, Calkins H, Suurmeijer AJ, Hauer RN, Saffitz JE, Wilde AA, van den Berg MP, van Tintelen JP. 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 Nov;14(11):1199-207. 

  • Kapplinger JD, Landstrom AP, Salisbury BA, Callis TE, Pollevick GD, Tester DJ, Cox MG, Bhuiyan Z, Bikker H, Wiesfeld AC, Hauer RN, van Tintelen JP, Jongbloed JD, Calkins H, Judge DP, Wilde AA, Ackerman MJ. Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise. J Am Coll Cardiol. 2011 Jun 7;57(23):2317-27. View abstract.
  • Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, Calkins H, Camm AJ, Ellinor PT, Gollob M, Hamilton R, Hershberger RE, Judge DP, Le Marec H, McKenna WJ, Schulze-Bahr E, Semsarian C, Towbin JA, Watkins H, Wilde A, Wolpert C, Zipes DP.HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Heart Rhythm. 2011 Aug;8(8):1308-39. View abstract.
  • Tan BY, Jain R, den Haan AD, Chen Y, Dalal D, Tandri H, Amat-Alarcon N, Daly A, Tichnell C, James C, Calkins H, Judge DP. Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Cardiovasc Transl Res. 2010 Dec;3(6):663-73. Read full article.
  • Xu T. Yang Z, Vatta M, Rampazzo A, Beffagna G, Pilichou K, Scherer SE, Saffitz J, Kravitz J, Zareba W, Danieli GA, Lorenzon A, Nava A, Bauce B, Thiene G, Basso C, Calkins H, Gear K, Marcus F, Towbin JA; Multidisciplinary Study of Right Ventricular Dysplasia Investigators. Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol. 2010 Feb 9;55(6):587-97. Read full article.
  • den Haan AD, Tan BY, Zikusoka MN, Llado LI, Jain R, Daly A, Tichnell C, James C, Amat-Alarcon N, Abraham T, Russell SD, Bluemke DA, Calkins H, Dalal D, Judge DP. Comprehensive desmosome mutation analysis in north Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Cardiovasc Genet. 2009 Oct;2(5):428-35. Read full article.
  • Dalal D, Tandri H, Judge DP, Amat N, Macedo R, Jain R, Tichnell C, Daly A, James C, Russell SD, Abraham T, Bluemke DA, Calkins H. Morphologic variants of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy a genetics-magnetic resonance imaging correlation study. J Am Coll Cardiol. 2009; 53(15): 1289-99. View abstract.
  • Hershberger RE, Lindenfeld J, Mestroni L, Seidman CE, Taylor MR, Towbin JA. Genetic evaluation of cardiomyopathy—a Heart Failure Society of America practice guideline. J Card Fail. 2009 Mar:15(2):83-97. View abstract.
  • Judge DP and Johnson NM. Genetic Evaluation of Familial Cardiomyopathy. Journal of Cardiovascular Translational Research, 2008; DOI 10.1007/s12265-008-902501. View abstract.
  • Awad MM, Calkins H, Judge DP. Mechanisms of Disease: Molecular Genetics of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. Nature Clin Pract Cardiovasc Med. 2008 Apr 1:1-10. View abstract.
  • Dalal D, James C, Devanagondi R, Tichnell C, Tucker A, Prakasa K, Spevak P, Bluemke D, Abraham T, Russell S, Calkins H, Judge D. Penetrance of Mutations in Plakophilin-2 among Families with Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. J Am Coll Cardiol. 2006 Oct 3:48(7):1416-24. Epub 2006 Sep 12. View abstract.
  • Awad MM, Dalal D, Tichnell C, James C, Tucker A, Abraham T, Spevak PJ, Calkins H, Judge DP. Recessive Arrhythmogenic Right Ventricular Dysplasia due to Novel Cryptic Splice Mutation in PKP2. Hum Mutat. 2006 Nov;27(11):1157. Read full article.
  • Awad MM, Dalal D, Cho E, Alarcon NA, James C, Tichnell C, Tucker A, Russell SD, Bluemke DA, Dietz HC, Calkins H, Judge DP. DSG2 mutations contribute to Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. Am J Hum Genet. 2006 Jul;79(1):136-42. Epub 2006 Apr 28. Read full article.
  • Dalal D, Molin L, Piccini J, Tichnell C, James C, Bomma C, Prakasa K, Towbin J, Marcus F, Spevak P, Bluemke D, Abraham T, Russell S, Calkins H, Judge D. Clinical Features of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Associated with Mutations in Plakophilin-2. Circulation 2006 Apr 4;113(13):1641-9. Read full article.
  • Yang Z, Bowles NE, Scherer SE, Taylor MD, Kearney DL, Ge S, Nadvoretskiy VV, DeFreitas G, Carabello B, Brandon LI, Godsel LM, Green KJ, Saffitz JE, Li H, Danieli GA, Calkins H, Marcus F, Towbin JA. Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Res. 2006 Sep 15;99(6):646-55. Epub 2006 Aug 17. Read full article.
 

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