Desmoplakin truncations and arrhythmogenic left ventricular cardiomyopathy: Characterizing a phenotype

Europace

Volumn 16, Issue 12, 2014, Pages 1838-1846

  López Ayala, Jose María ^a   Gómez Milanés, Ivan ^b   Muñoz, Juan JoséSánchez ^a   Ruiz Espejo, Francisco ^b   Ortíz, Martín ^c   González Carrillo, Josefa ^a   López Cuenca, David ^a   Oliva Sandoval, M J ^a   Monserrat, Lorenzo ^c   Valdé, Mariano ^a   Gimeno, Juan R ^a  

^a UNIVERSITY OF MURCIA   (Spain)

^b HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

^c UNIVERSITY OF A CORUÑA   (Spain)

Author keywords

Arrhythmogenic cardiomyopathy; Desmoplakin; Dilated cardiomyopathy; Implantable cardioverterdefibrillator; Sudden death

Indexed keywords

DESMOPLAKIN;

ADULT; ARRHYTHMOGENIC LEFT VENTRICULAR CARDIOMYOPATHY; ARTICLE; CARDIOMYOPATHY; CARDIOVASCULAR MAGNETIC RESONANCE; CLINICAL ARTICLE; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HEART VENTRICLE ARRHYTHMIA; HEART VENTRICLE TACHYCARDIA; HUMAN; MALE; OUTCOME ASSESSMENT; PHENOTYPE; PRIORITY JOURNAL; SUDDEN CARDIAC DEATH; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; GENETIC PREDISPOSITION; GENETICS; HEART LEFT VENTRICLE FUNCTION; HETEROZYGOTE; INCIDENCE; MUTATION; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; SPAIN;

ADULT; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; DESMOPLAKINS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HETEROZYGOTE; HUMANS; INCIDENCE; MALE; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; SPAIN; VENTRICULAR DYSFUNCTION, LEFT;

EID: 84922457760     PISSN: 10995129     EISSN: 15322092     Source Type: Journal    
DOI: 10.1093/europace/euu128     Document Type: Article

References (26)

1. Corrado D, Basso C, Thiene G. Sudden cardiac death in young people with apparently normal heart. Cardiovasc Res 2001;50:399-408.
2. Basso C, Thiene G, Corrado D, Angelini A, Nava A, Valente M. Arrhythmogenic right ventricular cardiomyopathy. Dysplasia, dystrophy, or myocarditis? Circulation 1996; 94:983-91.
3. Sen-Chowdhry S, Syrris P, Prasad SK, Hughes SE, Merrifield R, Ward D et al. Leftdominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity. J Am Coll Cardiol 2008;52:2175-87.
4. 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.
5. Fressart V, Duthoit G, Donal E, Probst V, Deharo JC, Chevalier P et al. Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice. Europace 2010;12:861-8.
6. Gandjbakhch E, Vite A, Gary F, Fressart V, Donal E, Simon F et al. Screening of genes encoding junctional candidates in arrhythmogenic right ventricular cardiomyopathy/ dysplasia. Europace 2013;15:1522-5.
7. van der Zwaag PA, van Rijsingen IA, Asimaki A, Jongbloed JD, van Veldhuisen DJ, Wiesfeld AC et al. Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. Eur J Heart Fail 2012;14:1199-207.
8. Mestroni L, Maisch B, McKenna WJ, Schwartz K, Charron P, RoccoCet al. Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on familial dilated cardiomyopathy. Eur Heart J 1999;20:93-102.
9. Marcus FI, McKenna WJ, Sherrill D, Basso C, Bauce B, BluemkeDAet al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria. Eur Heart J 2010;31:806-14.
10. Jenni R, Oechslin E, Schneider J, Attenhofer JC, Kaufmann PA. Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy. Heart 2001;86:666-71.
11. Yu CC, Yu CH, Hsueh CH, Yang CT, Juang JM, Hwang JJ et al. Arrhythmogenic right ventricular dysplasia: clinical characteristics and identification of novel desmosome gene mutations. J Formos Med Assoc 2008;107:548-58.
12. Green KJ, Gaudry CA. Are desmosomes more than tethers for intermediate filaments? Nat Rev Mol Cell Biol 2000;1:208-16.
13. Norman M, Simpson M, Mogensen J, Shaw A, Hughes S, Syrris P et al. Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy. Circulation 2005;112:636-42.
14. Bauce B, Basso C, Rampazzo A, Beffagna G, Daliento L, FrigoGet al. Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations. Eur Heart J 2005;26:1666-75.
15. Navarro-Manchon J, Fernandez E, Igual B, Asimaki A, Syrris P, Osca J et al. [Left dominant arrhythmogenic cardiomyopathy caused by a novel nonsense mutation in desmoplakin]. Rev Esp Cardiol 2011;64:530-4.
16. McCrohon JA, Moon JC, Prasad SK, McKenna WJ, Lorenz CH, Coats AJ et al. Differentiation of heart failure related to dilated cardiomyopathy and coronary artery disease using gadolinium-enhanced cardiovascular magnetic resonance. Circulation 2003;108:54-9.
17. Igual B, Zorio E, Maceira A, Estornell J, Lopez-Lereu MP, Monmeneu JV et al. [Arrhythmogenic cardiomyopathy. Patterns of ventricular involvement using cardiac magnetic resonance]. Rev Esp Cardiol 2011;64:1114-22.
18. Corrado D, Leoni L, Link MS, Della BP, Gaita F, Curnis A et al. Implantable cardioverter-defibrillator therapy for prevention of sudden death in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia. Circulation 2003;108: 3084-91.
19. Wichter T, Paul M,Wollmann C, Acil T, Gerdes P, AshrafOet al. Implantable cardioverter/ defibrillator therapy in arrhythmogenic right ventricular cardiomyopathy: single-center experience of long-term follow-up and complications in 60 patients. Circulation 2004;109:1503-8.
20. Migliore F, Zorzi A, Silvano M, Bevilacqua M, Leoni L, MarraMPet al. Prognostic value of endocardial voltage mapping in patients with arrhythmogenic right ventricular cardiomyopathy/ dysplasia. Circ Arrhythm Electrophysiol 2013;6:167-76.
21. Santangeli P, Dello RA, Pieroni M, Casella M, Di BL, Burkhardt JD et al. Fragmented and delayed electrograms within fibrofatty scar predict arrhythmic events in arrhythmogenic right ventricular cardiomyopathy: results from a prospective risk stratification study. Heart Rhythm 2012;9:1200-6.
22. Bhonsale A, James CA, Tichnell C, Murray B, Madhavan S, Philips B et al. Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. Circ Arrhythm Electrophysiol 2013;6:569-78.
23. Peters S, Peters H, Thierfelder L. Risk stratification of sudden cardiac death and malignant ventricular arrhythmias in right ventricular dysplasia-cardiomyopathy. Int J Cardiol 1999;71:243-50.
24. Turrini P, Corrado D, Basso C, Nava A, Bauce B, Thiene G. Dispersion of ventricular depolarization-repolarization: a noninvasive marker for risk stratification in arrhythmogenic right ventricular cardiomyopathy. Circulation 2001;103:3075-80.
25. McMurray JJ, Adamopoulos S, Anker SD, Auricchio A, Bohm M, Dickstein K et al. ESC guidelines for the diagnosis and treatment of acute and chronic heart failure 2012: the Task Force for the diagnosis and treatment of acute and chronic heart failure 2012 of the European Society of Cardiology. Developed in collaboration with the Heart Failure Association (HFA) of the ESC. Eur J Heart Fail 2012;14: 803-69.
26. Asimaki A, Tandri H, Huang H, Halushka MK, Gautam S, Basso C et al. A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy. N Engl J Med 2009; 360:1075-84.