Genetics of arrhythmogenic right ventricular cardiomyopathy: A practical guide for physicians

Journal of the American College of Cardiology

Volumn 61, Issue 19, 2013, Pages 1945-1948

  Marcus, Frank I ^a   Edson, Sue ^b   Towbin, Jeffrey A ^c  

^a UNIVERSITY OF ARIZONA COLLEGE OF MEDICINE   (United States)

^b ARVD Heart for Hope   (United States)

^c CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

arrhythmogenic right ventricular cardiomyopathy; arrhythmogenic right ventricular dysplasia; desmosomes; genetics; plakophilin 2

Indexed keywords

DESMOGLEIN 2; DESMOPLAKIN; DESMOSCOLLIN 2; PLAKOGLOBIN; PLAKOPHILIN; PLAKOPHILIN 2; UNCLASSIFIED DRUG;

AUTOPSY; COST; DESMOSOME; ELECTROCARDIOGRAPHY; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC SCREENING; GENETIC VARIABILITY; GENETICS; HEALTH INSURANCE; HEART RIGHT VENTRICLE DYSPLASIA; HETEROZYGOSITY; HUMAN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVIEW;

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; DESMOSOMES; GENETIC HETEROGENEITY; GENETIC TESTING; HUMANS;

EID: 84877259934     PISSN: 07351097     EISSN: 15583597     Source Type: Journal    
DOI: 10.1016/j.jacc.2013.01.073     Document Type: Review

References (16)

1. S. Sen-Chowdhry, P. Syrris, D. Ward, A. Asimaki, E. Sevdalis, W.J. McKenna Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression Circulation 115 2007 1710 1720
2. M.G.P.J. Cox, P.A. van der Zwaag, C. van der Werf Arrhythmogenic right ventricular dysplasia/cardiomyopathy Circulation 123 2011 2690 2700
3. V. Fressart, G. Guthoit, E. Donal Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice Europace 12 2010 861 868
4. T. Xu, Z. Yang, M. Vatta Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy J Am Coll Cardiol 55 2010 587 597
5. J.D. Kapplinger, A.P. Landstrom, B.A. Salisbury Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise J Am Coll Cardiol 57 2011 2317 2327
6. N. Protonotarios, A. Tsatsopoulou Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy Cardiovasc Pathol 13 2004 185 194
7. M.J. Ackerman, S.G. Priori, S. Willems HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies Europace 13 2011 1077 1109
8. A. Lahtinen, E. Lehtonen, A. Marjamaa Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy Heart Rhythm 8 2011 1214 1221
9. L. Mestroni, M.R.G. Taylor Hearing the noise J Am Coll Cardiol 57 2011 2328 2329
10. A.D. den Haan, B.Y. Tan, M.N. Zikusoka Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy Circ Cardiovasc Genet 2 2009 428 435
11. A.H. Christensen, M. Benn, H. Bundgaard, A. Tybjaerg-Hansen, S. Haunso, J.H.L. Svendsen Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy J Med Genet 47 2010 736 744
12. C. Barahona-Dussault, B. Benito, O. Campuzano Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia Clin Genetics 77 2010 37 48
13. B. Bauce, A. Nava, G. Beffagna Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia Heart Rhythm 7 2010 22 29
14. G. Quarta, A. Muir, A. Pantazis Familial evaluation in arrhythmogenic right ventricular cardiomyopathy Circulation 123 2011 2701 2709
15. M. Zhang, F. Tavora, J. Oliveria PKP2 mutations in sudden death from arrhythmogenic right ventricular cardiomyopathy (ARVC) and sudden unexpected death with negative autopsy (SUDNA) Circ J 76 2012 189 194
16. B. Murray Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C): a review of molecular and clinical literature J Genet Counsel 21 2012 497 504