ARVD.COM






		Selected articles on ARVD/C in the medical literature published from January 2000 through January 2008. Many abstracts are available by searching PUBMED OVERVIEW/CASE STUDIES DIAGNOSIS IMAGING ELECTROCARDIOGRAPHIC FEATURES MANAGEMENT GENETICS Meurs KM, Ederer NM, Stern JA. Desmosomal gene evaluation in Boxers with arrhythmogenic right ventricular cardiomyopathy. Am J Vet Res. 2007 Dec;68(12):1338-41. Beffagna G, De Bortoli M, Nava A, Salamon M, Lorenzon A, Zaccolo M, Mancuso L, Sigalotti L, Bauce B, Occhi G, Basso C, Lanfranchi G, Towin JA, Thiene G, Danieli GA, Rampazzo A. 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 Oct 26;8:65. Sen-Chowdhry S, Syrris P, McKenna WJ. Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Am Coll Cardiol. 2007 Nov 6;50(19):1813-21. Epub 2007 Oct 24. Review. Asimaki A, Syrris P, Wichter T, Matthias P, Saffitz JE, McKenna WJ. A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet. 2007 Nov;81(5):964-73 Epub 2007 Sep 28. Lahtinen AM, Lehtonen A, Kaartinen M, Toivonen L, Swan H, Widen E, Lehtonen E, Lehto VP, Kontula K. Plakophilin-2 missense mutations in arrhythmogenic right ventricular cardiomyopathy. Int J Cardiol. 2007 May 22. Moric-Janiszewska E, Markiewicz-Loskot G. Review on the genetics of arrhythmogenic right ventricular dysplasia. Europace. 2007 May;9(5):259-66. Epub 2007 Mar 15. Review. Heuser A, Plovie ER, Ellinor PT, Grossmann KS, Shin JT, Wichter T, Basson CT, Lerman BB, Sasse-Klaasen S, Thierfelder L, MacRae CA, Gerull B. Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet. 2006 Dec;79(6):1081-8. Epub 2006 Oct 3. Heuser A, Plovie ER, Ellinor PT, Grossmann KS, Shin JT, Wichter T, Basson CT, Lerman BB, Sasse-Klaassen S, Thierfelder L, MacRae CA, Gerull B. Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet. 2006 Dec;79(6):1081-8. Epub 2006 Oct 3. Syrris P, Ward D, Asimaki A, Evans A, Sen-Chowdhry S, Hughes SE, McKenna WJ. Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease. Eur Heart J. 2006 Nov 14 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. Syrris P, Ward D, Evans A, Asimaki A, Gandjbakhch E, Sen-Chowdhry S, McKenna WJ. Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. Am J Hum Genet. 2006 Nov;79(5):978-84. Epub 2006 Sep 27. Kirchhof P, Fabritz L, Zwiener M, Witt H, Schafers M, Zellerhoff S, Paul M, Athai T, Hiller KH, Baba HA, Breithardt G, Ruiz P, Wichter T, Levkau B. Age- and training-dependent development of arrhythmogenic right ventricular cardiomyopathy in heterozygous plakoglobin-deficient mice. Circulation. 2006 Oct 24;114(17):1799-806. Epub 2006 Oct 9. Dalal D, James C, Devanagondi R, Tichnell C, Tucker A, Prakasa K, Spevak PJ, Bluemke DA, Abraham T, Russell SD, Calkins H, Judge DP. 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. Antoniades L, Tsatsopoulou A, Anastasakis A, Syrris P, Asimaki A, Panagiotakos D, Zambartas C, Stefanadis C, McKenna WJ, Protonotarios N. Arrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: genotype-phenotype relations, diagnostic features and prognosis. Eur Heart J. 2006 Sep;27(18):2208-16. Epub 2006 Aug 7. 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. Kannankeril PJ, Bhuiyan ZA, Darbar D, Mannens MM, Wilde AA, Roden DM. Arrhythmogenic right ventricular cardiomyopathy due to a novel plakophilin 2 mutation: wide spectrum of disease in mutation carriers within a family. Heart Rhythm. 2006 Aug;3(8):939-44. Epub 2006 May 3. 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 Jul;116(7):2012-21. MacRae CA, Birchmeier W, Thierfelder L. Arrhythmogenic right ventricular cardiomyopathy: moving toward mechanism. J Clin Invest. 2006 Jul;116(7):1825-8. Nagaoka I, Matsui K, Ueyama T, Kanemoto M, Wu J, Shimizu A, Matsuzaki M, Horie M. Novel mutation of plakophilin-2 associated with arrhythmogenic right ventricular cardiomyopathy. Circ J. 2006 Jul;70(7):933-5. Milting H, Lukas N, Klauke B, Korfer R, Perrot A, Osterziel KJ, Vogt J, Peters S, Thieleczek R, Varsanyi M. Composite polymorphisms in the ryanodine receptor 2 gene associated with arrhythmogenic right ventricular cardiomyopathy.nCardiovasc Res. 2006 Aug 1;71(3):496-505. Epub 2006 Apr 18. Meurs KM, Lacombe VA, Dryburgh K, Fox PR, Reiser PR, Kittleson MD. Differential expression of the cardiac ryanodine receptor in normal and arrhythmogenic right ventricular cardiomyopathy canine hearts. Hum Genet. 2006 Aug;120(1):111-8. Epub 2006 May 30. Tsatsopoulou AA, Protonotarios NI, McKenna WJ. Arrhythmogenic right ventricular dysplasia, a cell adhesion cardiomyopathy: insights into disease pathogenesis from preliminary genotype--phenotype assessment. Heart. 2006 Dec;92(12):1720-3. Epub 2006 May 12. Awad MM, Dalal D, Cho E, Amat-Alarcon N, 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. van Tintelen JP, Entius MM, Bhuiyan ZA, Jongbloed R, Wiesfeld AC, Wilde AA, van der Smagt J, Boven LG, Mannens MM, van Langen IM, Hofstra RM, Otterspoor LC, Doevendans PA, Rodriguez LM, van Gelder IC, Hauer RN. Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circulation. 2006 Apr 4;113(13):1650-8. Epub 2006 Mar 27. Dalal D, Molin LH, Piccini J, Tichnell C, James C, Bomma C, Prakasa K, Towbin JA, Marcus FI, Spevak PJ, Bluemke DA, Abraham T, Russell SD, Calkins H, Judge DP. Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2. Circulation. 2006 Apr 4;113(13):1641-9. Epub 2006 Mar 20. Protonotarios N, Tsatsopoulou A. Naxos disease: cardiocutaneous syndrome due to cell adhesion defect. Orphanet J Rare Dis. 2006 Mar 13;1:4. Pilichou K, Nava A, Basso C, Beffagna G, Bauce B, Lorenzon A, Frigo G, Vettori A, Valente M, Towbin J, Thiene G, Danieli GA, Rampazzo A. Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. Circulation. 2006 Mar 7;113(9):1171-9. Epub 2006 Feb 27. Syrris P, Ward D, Asimaki A, Sen-Chowdhry S, Ebrahim HY, Evans A, Hitomi N, Norman M, Pantazis A, Shaw AL, Elliott PM, McKenna WJ. Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy. Circulation. 2006 Jan 24;113(3):356-64. Epub 2006 Jan 16. Sen-Chowdhry S, Syrris P, McKenna WJ. Genetics of right ventricular cardiomyopathy. J Cardiovasc Electrophysiol. 2005 Aug;16(8):927-35. Norman M, Simpson M, Mogensen J, Shaw A, Hughes S, Syrris P, Sen-Chowdhry S, Rowland E, Crosby A, McKenna WJ. Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy. Circulation. 2005 Aug 2;112(5):636-42. Nattel S, Schott JJ. Arrhythmogenic right ventricular dysplasia type 1 and mutations in transforming growth factor beta3 gene regulatory regions: a breakthrough? Cardiovasc Res. 2005 Feb 1;65(2):302-4. Kaplan SR, Gard JJ, Protonotarios N, Tsatsopoulou A, Spiliopoulou C, Anastasakis A, Squarcioni CP, McKenna WJ, Thiene G, Basso C, Brousse N, Fontaine G, Saffitz JE. Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin ( Naxos disease). Heart Rhythm. 2004 May;1(1):3-11. Beffagna G et al. Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. Cardiovasc Res. 2005 Feb 1; 65(2):366-73. Gerull B et al. Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet. 2004 Nov; 36(11):1162-4. Epub 2004 Oct 17. 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 Jul-Aug; 13(4):185-94. Asano Y et al. Lamr1 functional retroposon causes right ventricular dysplasia in mice. Nat Genet. 2004 Feb; 36(2):123-30. Epub 2004 Jan 18. Wlodarska EK et al. Familial form of arrhythmogenic right ventricular cardiomyopathy. Kardiol Pol. 2004 Jan; 60(1):1-14. English, Polish. Huang J et al. Linkage analysis of five Chinese families with arrhythmogenic right ventricular cardiomyopathy using microsatellite genetic markers. Chin Med J (Engl). 2003 Nov; 116(11):1701-6. George CH, Higgs GV, Lai FA. Ryanodine receptor mutations associated with stress-induced ventricular tachycardia mediate increased calcium release in stimulated cardiomyocytes. Circ Res. 2003 Sep 19; 93(6):531-40. Epub 2003 Aug 14. Ahmad F. The molecular genetics of arrhythmogenic right ventricular dysplasia-cardiomyopathy. Clin Invest Med. 2003 Aug;26(4):167-78. Review. Alcalai R et al. A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair. J Am Coll Cardiol. 2003 Jul 16;42(2):319-27. Paul M, et al. Genetics of arrhythmogenic right ventricular cardiomyopathy – status quo and future perspectives. Z Kariol. 2003 Feb;92(2):128-36. Rampazzo A et al. Arrhythmogenic right ventricular cardiomyopathy type 1 (ARVD1): confirmation of locus assignment and mutation screening of four candidate genes. Eur J Genet. 2003 Jan;11(1):69-76. Rampazzo A et al. Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet. 2002 Nov;71(5):1200-6. Danieli GA, Rampazzo A. Genetic of arrhythmogenic right ventricular cardiomyopathy. Curr Opin Cardiol. 2002 May;17(3):218-21. Bowles NE et al. The detection of cardiotropic viruses in the myocardium of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Am Coll Cardiol. 2002 Mar 6;39(5):892-5. Protonotarios NI et al Arrhythmogenic right ventricular cardiomyopathy caused by a deletion in plakoglobin (Naxos Disease) Cardiac Electrophysiology Review 2002;6:72-80. Towbin JA. Molecular genetic basis of sudden cardiac death. Cardiovasc Pathol. 2001 Nov-Dec;10(6):283-95. Protonotarios N et al. Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin. J Am Coll Cardiol. 2001 Nov 1;38(5):1477-84. Li D, Bachinski LL, Roberts R. Genomic organization and isoform-specific tissue expression of human NAPOR (CUGBP2) as a candidate gene for familial arrhythmogenic right ventricular dysplasia. Genomics. 2001 Jun 15;74(3):396-401. Tiso N et al Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2) Hum Mol Genet 2001;10:189-194. McKoy G et al. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet. 2000 Jun 17;355(9221):2119-24. Bauce B et al. Familial effort polymorphic ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy map to chromosome 1q42-43. Am J Cardiol. 2000 Mar 1;85(5):573-9. Li D 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 Genet. 2000 Jan;66(1):148-56.