On the diagnostic utility of junction plakoglobin in arrhythmogenic right ventricular cardiomyopathy

Cardiovascular Pathology

Volumn 22, Issue 5, 2013, Pages 309-311

  Marian, Ali J ^a  

^a UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DESMOCOLLIN; DESMOPLAKIN; PLAKOGLOBIN; PLAKOPHILIN;

ANAMNESIS; ANTIBODY TITER; CARDIOVASCULAR MAGNETIC RESONANCE; CLINICAL MEDICINE; DESMOSOME; DIAGNOSTIC ERROR; DIAGNOSTIC VALUE; DNA SEQUENCE; ECHOCARDIOGRAPHY; EDITORIAL; ELECTROCARDIOGRAPHY; GENETIC SCREENING; GENETIC VARIABILITY; HEART MUSCLE BIOPSY; HEART RIGHT VENTRICLE DYSPLASIA; HUMAN; IMMUNOHISTOCHEMISTRY; IMMUNOREACTIVITY; MEDICAL HISTORY; MOLECULAR GENETICS; MOLECULAR PATHOLOGY; PHENOTYPE; PHENOTYPIC PLASTICITY; PHYSICAL EXAMINATION; PRIORITY JOURNAL; T WAVE INVERSION;

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; BIOLOGICAL MARKERS; DESMOPLAKINS; DESMOSOMES; HUMANS; IMMUNOHISTOCHEMISTRY; MUTATION; SUBCELLULAR FRACTIONS;

EID: 84884125427     PISSN: 10548807     EISSN: 18791336     Source Type: Journal    
DOI: 10.1016/j.carpath.2013.05.002     Document Type: Editorial

References (29)

1. G McKoy, N Protonotarios, A Crosby, A Tsatsopoulou, A Anastasakis, A Coonar, M Norman, C Baboonian, S Jeffery, and WJ McKenna Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (naxos disease) Lancet 355 2000 2119 2124
2. A Rampazzo, A Nava, S Malacrida, G Beffagna, B Bauce, V Rossi, R Zimbello, B Simionati, C Basso, G Thiene, JA Towbin, and GA Danieli Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am.J Hum Genet 71 2002 1200 1206
3. R Alcalai, S Metzger, S Rosenheck, V Meiner, and T Chajek-Shaul A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair J Am Coll Cardiol 42 2003 319 327
4. B Gerull, A Heuser, T Wichter, M Paul, CT Basson, DA McDermott, BB Lerman, SM Markowitz, PT Ellinor, CA MacRae, S Peters, KS Grossmann, J Drenckhahn, B Michely, S Sasse-Klaassen, W Birchmeier, R Dietz, G Breithardt, E Schulze-Bahr, and L Thierfelder Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy Nat Genet 36 2004 1162 1164
5. MM Awad, D Dalal, E Cho, N Amat-Alarcon, C James, C Tichnell, A Tucker, SD Russell, DA Bluemke, HC Dietz, H Calkins, and DP Judge Dsg2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy Am J Hum Genet 79 2006 136 142
6. A Heuser, ER Plovie, PT Ellinor, KS Grossmann, JT Shin, T Wichter, CT Basson, BB Lerman, S Sasse-Klaassen, L Thierfelder, CA MacRae, and B Gerull Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy Am J Hum Genet 79 2006 1081 1088
7. K Pilichou, A Nava, C Basso, G Beffagna, B Bauce, A Lorenzon, G Frigo, A Vettori, M Valente, J Towbin, G Thiene, GA Danieli, and A Rampazzo Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy Circulation 113 2006 1171 1179
8. ND Merner, KA Hodgkinson, AFM Haywood, S Connors, VM French, JD Drenckhahn, C Kupprion, K Ramadanova, L Thierfelder, W McKenna, B Gallagher, L Morris-Larkin, AS Bassett, PS Parfrey, and TL Young 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 82 2008 809 821
9. AJ Marian, and J Belmont Strategic approaches to unraveling genetic causes of cardiovascular diseases Circ Res 108 2011 1252 1269
10. AJ Marian Molecular genetic studies of complex phenotypes Transl Res 159 2012 64 79
11. FI Marcus, and A Abidov Arrhythmogenic right ventricular cardiomyopathy 2012: Diagnostic challenges and treatment J Cardiovasc Electrophysiol 23 2012 1149 1153
12. M Noorman, S Hakim, A Asimaki, A Vreeker, HV van Rijen, MA van der Heyden, N de Jonge, RA de Weger, RN Hauer, JE Saffitz, and TA van Veen Reduced plakoglobin immunoreactivity in arrhythmogenic cardiomyopathy: Methodological considerations Cardiovasc Pathol 2013 PMID: 23688911
13. A Asimaki, H Tandri, H Huang, MK Halushka, S Gautam, C Basso, G Thiene, A Tsatsopoulou, N Protonotarios, WJ McKenna, H Calkins, and JE Saffitz A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy N Engl J Med 360 2009 1075 1084
14. AH Christensen, CB Andersen, A Tybjaerg-Hansen, S Haunso, and JH Svendsen Mutation analysis and evaluation of the cardiac localization of tmem43 in arrhythmogenic right ventricular cardiomyopathy Clin Genet 80 2011 256 264
15. J Munkholm, AH Christensen, JH Svendsen, and CB Andersen Usefulness of immunostaining for plakoglobin as a diagnostic marker of arrhythmogenic right ventricular cardiomyopathy Am J Cardiol 109 2012 272 275
16. JP van Tintelen, IC Van Gelder, A Asimaki, AJ Suurmeijer, AC Wiesfeld, JD Jongbloed, A van den Wijngaard, JB Kuks, KY van Spaendonck-Zwarts, N Notermans, L Boven, F van den Heuvel, HE Veenstra-Knol, JE Saffitz, RM Hofstra, and MP van den Berg Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the des gene Heart Rhythm 6 2009 1574 1583
17. K Gehmlich, A Asimaki, TJ Cahill, E Ehler, P Syrris, E Zachara, F Re, A Avella, L Monserrat, JE Saffitz, and WJ McKenna Novel missense mutations in exon 15 of desmoglein-2: Role of the intracellular cadherin segment in arrhythmogenic right ventricular cardiomyopathy? Heart Rhythm 7 2010 1446 1453
18. K Gehmlich, P Syrris, E Peskett, A Evans, E Ehler, A Asimaki, A Anastasakis, A Tsatsopoulou, A.I Vouliotis, C Stefanadis, JE Saffitz, N Protonotarios, and WJ McKenna Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations Cardiovasc Res 90 2011 77 87
19. K Gehmlich, P Syrris, M Reimann, A Asimaki, E Ehler, A Evans, G Quarta, A Pantazis, JE Saffitz, and WJ McKenna Molecular changes in the heart of a severe case of arrhythmogenic right ventricular cardiomyopathy caused by a desmoglein-2 null allele Cardiovasc Pathol 21 2012 275 282
20. A Asimaki, H Tandri, ER Duffy, JR Winterfield, S Mackey-Bojack, MM Picken, LT Cooper, DJ Wilber, FI Marcus, C Basso, G Thiene, A Tsatsopoulou, N Protonotarios, WG Stevenson, WJ McKenna, S Gautam, DG Remick, H Calkins, and JE Saffitz Altered desmosomal proteins in granulomatous myocarditis and potential pathogenic links to arrhythmogenic right ventricular cardiomyopathy Circ Arrhythmia Electrophysiol 4 2011 743 752
21. F Tavora, N Creswell, and AP Burke Arrhythmogenic right ventricular cardiomyopathy N Engl J Med 360 2009 2784 [author reply 2785-2786]
22. Biomarkers Definitions Working Group Biomarkers and surrogate endpoints: Preferred definitions and conceptual framework Clin Pharmacol Ther 69 2001 89 95
23. R Lombardi, CM da Graca, A Bell, RR Fromm, JT Willerson, and AJ Marian Nuclear plakoglobin is essential for differentiation of cardiac progenitor cells to adipocytes in arrhythmogenic right ventricular cardiomyopathy Circ Res 109 2011 1342 1353
24. E Garcia-Gras, R Lombardi, MJ Giocondo, JT Willerson, MD Schneider, DS Khoury, and AJ Marian Suppression of canonical wnt/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy J Clin Invest 116 2006 2012 2021
25. R Lombardi, J Dong, G Rodriguez, A Bell, TK Leung, RJ Schwartz, JT Willerson, R Brugada, and AJ Marian Genetic fate mapping identifies second heart field progenitor cells as a source of adipocytes in arrhythmogenic right ventricular cardiomyopathy Circ Res 104 2009 1076 1084
26. FI Marcus, S Edson, and JA Towbin Genetics of arrhythmogenic right ventricular cardiomyopathy: a practical guide for physicians J Am Coll Cardiol 61 2013 1945 1948
27. M Paul, T Wichter, J Gerss, V Arps, E Schulze-Bahr, H Robenek, G Breithardt, and G Weissen-Plenz Connexin expression patterns in arrhythmogenic right ventricular cardiomyopathy Am J Cardiol 111 2013 1488 1495
28. PY Sato, W Coombs, X Lin, O Nekrasova, KJ Green, LL Isom, SM Taffet, and M Delmar Interactions between ankyrin-g, plakophilin-2, and connexin43 at the cardiac intercalated disc Circ Res 109 2011 193 201
29. H Tandri, A Asimaki, D Dalal, JE Saffitz, MK Halushka, and H Calkins Gap junction remodeling in a case of arrhythmogenic right ventricular dysplasia due to plakophilin-2 mutation J Cardiovasc Electrophysiol 19 2008 1212 1214