Quantitative Immunohistochemistry Of Desmosomal Proteins (Plakoglobin, Desmoplakin And Plakophilin), Connexin-43, And N-Cadherin In Arrhythmogenic Cardiomyopathy: An Autopsy Study

Open Cardiovascular Medicine Journal

Volumn 7, Issue 1, 2013, Pages 28-35

  Tavora, Fabio ^a   Zhang, Mingchang ^c,d   Cresswell, Nathaniel ^b   Li, Ling ^a,d,e   Fowler, David ^e   Franco, Marcello ^a   Burke, Allen ^e  

^a FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^b GEORGETOWN UNIVERSITY   (United States)

^c FUDAN UNIVERSITY   (China)

^d CHINA UNIVERSITY OF POLITICAL SCIENCE AND LAW   (China)

^e UNIVERSITY OF MARYLAND MEDICAL CENTER   (United States)

Author keywords

Arrhytmogenic cardiomyopaty; ARVC; Autopsy; Sudden death

Indexed keywords

CONNEXIN 43; DESMIN; DESMOPLAKIN; NERVE CELL ADHESION MOLECULE; PLAKOGLOBIN; PLAKOPHILIN;

ADULT; ARTICLE; AUTOPSY; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; CORONARY ARTERY DISEASE; FEMALE; HEART LEFT VENTRICLE; HEART RIGHT VENTRICLE; HEART RIGHT VENTRICLE DYSPLASIA; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MORPHOMETRICS; PRIORITY JOURNAL; PROTEIN EXPRESSION; QUANTITATIVE ANALYSIS;

EID: 84876075584     PISSN: None     EISSN: 18741924     Source Type: Journal    
DOI: 10.2174/1874192401307010028     Document Type: Article

References (27)

1. Dalal D, Molin LH, Piccini J, et al. Clinical features of arrhyth-mogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2. Circulation 2006; 113: 1641-1649.
2. 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: 1162-1164.
3. Heuser A, Plovie ER, Ellinor PT, et al. Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 2006; 79: 1081-1088.
4. Pilichou K, Nava A, Basso C, et al. Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardio-myopathy. Circulation 2006; 113: 1171-1179.
5. 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: 581-588.
6. Syrris P, Ward D, Asimaki A, et al. Clinical expression of plako-philin-2 mutations in familial arrhythmogenic right ventricular car-diomyopathy. Circulation 2006; 113: 356-364.
7. Syrris P, Ward D, Evans A, et al. Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmo-somal gene desmocollin-2. Am J Hum Genet 2006; 79: 978-984.
8. 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: 1650-1658.
9. 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.
10. Asimaki A, Tandri H, Huang H, et al. A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy. N Engl J Med 2009; 360: 1075-1084.
11. Ackerman MJ. State of postmortem genetic testing known as the cardiac channel molecular autopsy in the forensic evaluation of unexplained sudden cardiac death in the young. Pacing Clin Electro-physiol 2009; 32 Suppl 2: S86-S89.
12. Tester DJ, Ackerman MJ. Genetic testing for cardiac channelo-pathies: ten questions regarding clinical considerations for heart rhythm allied professionals. Heart Rhythm 2005; 2: 675-677.
13. Li J, Patel VV, Radice GL. Dysregulation of cell adhesion proteins and cardiac arrhythmogenesis. Clin Med Res 2006; 4: 42-52.
14. Tavora F, Zhang M, Franco M, et al. Distribution of biventricular disease in arrhythmogenic cardiomyopathy: an autopsy study. Hum Pathol 43(4): 592-596.
15. Zhang M, Tavora F, Oliveira JB, et al. PKP2 mutations in sudden death from arrhythmogenic right ventricular cardiomyopathy and sudden unexpected death with negative autopsy. Circ J 2012; 76(1): 189-194
16. Munkholm J, Christensen AH, Svendsen JH, Andersen CB. Usefulness of immunostaining for plakoglobin as a diagnostic marker of arrhythmogenic right ventricular cardiomyopathy. Am J Cardiol. 2012; 109(2): 272-275.
17. Christensen AH, Andersen CB, Tybjaerg-Hansen A, Haunso S, Svendsen JH. Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardio-myopathy. Clin Genet 2011; 80(3): 256-264.
18. 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: 1813-1821.
19. Erken H, Yariz KO, Duman D, et al. Cardiomyopathy with Alopecia and Palmoplantar Keratoderma (CAPK) is caused by a JUP mutation. Br J Dermatol 2011; 165(4): 917-921.
20. Awad MM, Calkins H, Judge DP. Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardio-myopathy. Nat Clin Pract Cardiovasc Med 2008; 5: 258-267.
21. Gehmlich K, Lambiase PD, Asimaki A, et al. A novel desmocollin-2 mutation reveals insights into the molecular link between desmo-somes and gap junctions. Heart Rhythm 2011; 8: 711-718.
22. Cox MG, van der Zwaag PA, van der Werf C, et al. Arrhyth-mogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: dutch arrhythmogenic right ventricular dysplasia/car-diomyopathy genotype-phenotype follow-up study. Circulation 2011; 123: 2690-2700.
23. Elliott P, O'Mahony C, Syrris P, et al. Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy. Circ Cardiovasc Genet 2010; 3: 314-322.
24. Herren T, Gerber PA, Duru F. Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a not so rare disease of the desmo-some with multiple clinical presentations. Clin Res Cardiol 2009; 98: 141-158.
25. Fidler LM, Wilson GJ, Liu F, et al. Abnormal connexin43 in ar-rhythmogenic right ventricular cardiomyopathy caused by plako-philin-2 mutations. J Cell Mol Med 2009; 13: 4219-4228.
26. Christensen AH, Benn M, Tybjaerg-Hansen A, Haunso S, Svendsen JH. Missense variants in plakophilin-2 in arrhythmogenic right ventricular cardiomyopathy patients--disease-causing or innocent bystanders? Cardiology 2010; 115: 148-154.
27. Sen-Chowdhry S, Syrris P, Ward D, Asimaki A, Sevdalis E, McKenna WJ. Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression. Circulation 2007; 115: 1710-1720.