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01-05-2012 | ICIN

Geographical distribution of plakophilin-2 mutation prevalence in patients with arrhythmogenic cardiomyopathy

Auteurs: K. A. Jacob, M. Noorman, M. G. P. J. Cox, J. A. Groeneweg, R. N. W. Hauer, M. A. G. van der Heyden

Gepubliceerd in: Netherlands Heart Journal | Uitgave 5/2012

Abstract

Arrhythmogenic cardiomyopathy (AC) is characterised by myocardial fibrofatty tissue infiltration and presents with palpitations, ventricular arrhythmias, syncope and sudden cardiac death. AC is associated with mutations in genes encoding the desmosomal proteins plakophilin-2 (PKP2), desmoplakin (DSP), desmoglein-2 (DSG2), desmocollin-2 (DSC2) and junctional plakoglobin (JUP). In the present study we compared 28 studies (2004–2011) on the prevalence of mutations in desmosomal protein encoding genes in relation to geographic distribution of the study population. In most populations, mutations in PKP2 showed the highest prevalence. Mutation prevalence in DSP, DSG2 and DSC2 varied among the different geographic regions. Mutations in JUP were rarely found, except in Denmark and the Greece/Cyprus region.

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Basso C, Corrado D, Marcus FI, et al. Arrhythmogenic right ventricular cardiomyopathy. Lancet. 2009;373:1289–9.PubMedCrossRef

Herren T, Gerber PA, Duru F. Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a not so rare ‘disease of the desmosome’ with multiple clinical presentations. Clin Res Cardiol. 2009;98:141–58.PubMedCrossRef

Priori SG, Aliot E, Blomstrom-Lundqvist C, et al. Task Force on sudden cardiac death of the European Society of Cardiology. Eur Heart J. 2001;22:1374–450.PubMedCrossRef

Noorman M, Van der Heyden MAG, Van Veen TA, et al. Cardiac cell-cell junctions in health and disease: Electrical versus mechanical coupling. J Mol Cell Cardiol. 2009;47:23–31.PubMedCrossRef

Cheng L, Yung A, Covarrubias M, et al. Cortactin is required for N-cadherin regulation of Kv1.5 channel function. J Biol Chem. 2011;286:20478–89.PubMedCrossRef

Gerull B, Heuser A, Wichter T, et al. Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet. 2004;36:62–1164.CrossRef

Watkins DA, Hendricks N, Shaboodien G, et al. ARVC Registry of the Cardiac Arrhythmia Society of Southern Africa (CASSA). Clinical features, survival experience, and profile of plakophylin-2 gene mutations in participants of the arrhythmogenic right ventricular cardiomyopathy registry of South Africa. Hear Rhythm. 2009;6(11 Suppl):S10–7.CrossRef

Lahtinen AM, Lehtonen E, Marjamaa A, et al. Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy. Hear Rhythm. 2011;8:1214–21.CrossRef

Van der Zwaag PA, Cox MGPJ, Van der Werf C, et al. Recurrent and founder mutations in the Netherlands. Neth Heart J. 2010;18:583–91.CrossRef

10.

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;31:806–14.PubMedCrossRef

11.

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;71:215–8.PubMedCrossRef

12.

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;57:2317–27.PubMedCrossRef

13.

Beffagna G, Occhi G, Nava A, et al. Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. Cardiovasc Res. 2005;65:366–73.PubMedCrossRef

14.

Tiso N, Stephan DA, Nava A, 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;10:189–94.PubMedCrossRef

15.

Merner ND, Hodgkinson KA, Haywood AF, 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;82:809–21.PubMedCrossRef

16.

Groeneweg JA, Van der Zwaag PA, Van der Werf C, et al. Revised 2010 Task Force Criteria for ARVD/C diagnosis promote inclusion of non-desmosomal mutation carriers. Circulation. 2011;124:A12326.

17.

Christensen AH, Benn M, Tybjærg-Hansen A, et al. Screening of three novel candidate genes in arrhythmogenic right ventricular cardiomyopathy. Genet Test Mol Biomarkers. 2011;15:267–71.PubMedCrossRef

18.

Fressart V, Duthoit G, Donal E, et al. Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice. Europace. 2010;12:861–8.PubMedCrossRef

19.

Sen-Chowdhry S, Syrris P, Ward D, et al. Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression. Circulation. 2007;115:1710–20.PubMedCrossRef

20.

Pilichou K, Nava A, Basso C, et al. Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. Circulation. 2006;113:1171–9.PubMedCrossRef

21.

Awad MM, Dalal D, Cho E, et al. DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. Am J Hum Genet. 2006;79:136–42.PubMedCrossRef

22.

Den Haan AD, Tan BY, Zikusoka MN, et al. Comprehensive desmosome mutation analysis in North Americans with Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. Circ Cardiovasc Genet. 2009;2:428–35.CrossRef

23.

Barahona-Dussault C, Benito B, Campuzano O, et al. Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. Clin Genet. 2010;77:37–48.PubMedCrossRef

24.

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;50:1813–21.PubMedCrossRef

25.

Cox MGPJ, Van der Zwaag PA, Van der Werf C, et al. Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. Pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy genotype-phenotype follow-up study. Circulation. 2011;123:2690–700.PubMedCrossRef

26.

Bauce B, Nava A, Beffagna G, et al. Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia. Hear Rhythm. 2010;7:22–9.CrossRef

27.

Christensen AH, Benn M, Bundgaard H, et al. Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy. J Med Genet. 2010;47:736–44.PubMedCrossRef

28.

Dalal D, Molin LH, Piccini J, et al. Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2. Circulation. 2006;113:1634–7.CrossRef

29.

Yang Z, Bowles NE, Scherer SE, et al. Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Res. 2006;99:646–55.PubMedCrossRef

30.

Marcus FI, Zareba W, Calkins H, et al. Arrhythmogenic right ventricular cardiomyopathy/dysplasia clinical presentation and diagnostic evaluation: results from the North American Multidisciplinary Study. Hear Rhythm. 2009;6:984–92.CrossRef

31.

Heuser A, Plovie ER, Ellinor PT, et al. Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet. 2006;79:1081–8.PubMedCrossRef

32.

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;79:978–84.PubMedCrossRef

33.

Syrris P, Ward D, Asimaki A, et al. Clinical expression of plakophilin-2 mutations in familial Arrhythmogenic Right Ventricular Cardiomyopathy. Circulation. 2006;113:356–64.PubMedCrossRef

34.

Syrris P, Ward D, Asimaki A, et al. Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease. Eur Heart J. 2007;28:581–8.PubMedCrossRef

35.

Van Tintelen JP, Entius MM, Bhuiyan ZA, et al. Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circulation. 2006;113:1650–8.PubMedCrossRef

36.

Bhuiyan ZA, Jongbloed JD, van der Smagt J, et al. Desmoglein-2 and desmocollin-2 mutations in Dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study. Circ Cardiovasc Genet. 2009;2:418–27.PubMedCrossRef

37.

Basso C, Czarnowska E, Della Barbera M, et al. Ultrastructural evidence of intercalated disc remodelling in arrhythmogenic right ventricular cardiomyopathy: an electron microscopy investigation on endomyocardial biopsies. Eur Heart J. 2006;27:1847–54.PubMedCrossRef

38.

Antoniades L, Tsatsopoulou A, Anastasakis A, et al. 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;27:2208–16.PubMedCrossRef

39.

Christensen AH, Benn M, Tybjaerg-Hansen A, et al. Missense variants in plakophilin-2 in arrhythmogenic right ventricular cardiomyopathy patients–disease-causing or innocent bystanders? Cardiology. 2010;115:148–54.PubMedCrossRef

40.

Lahtinen AM, Lehtonen A, Kaartinen M, et al. Plakophilin-2 missense mutations in arrhythmogenic right ventricular cardiomyopathy. Int J Cardiol. 2008;126:92–100.PubMedCrossRef

41.

Qiu X, Liu W, Hu D, et al. Mutations of plakophilin-2 in Chinese with arrhythmogenic right ventricular dysplasia/cardiomyopathy. Am J Cardiol. 2009;103:1439–44.PubMedCrossRef

Titel: Geographical distribution of plakophilin-2 mutation prevalence in patients with arrhythmogenic cardiomyopathy
Auteurs: K. A. Jacob
M. Noorman
M. G. P. J. Cox
J. A. Groeneweg
R. N. W. Hauer
M. A. G. van der Heyden
Publicatiedatum: 01-05-2012
Uitgeverij: Bohn Stafleu van Loghum
Gepubliceerd in: Netherlands Heart Journal / Uitgave 5/2012
Print ISSN: 1568-5888
Elektronisch ISSN: 1876-6250
DOI: https://doi.org/10.1007/s12471-012-0274-x

Bohn Stafleu van Loghum

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