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European Heart Journal Advance Access published online on August 7, 2006
European Heart Journal, doi:10.1093/eurheartj/ehl184
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European Heart Journal © The European Society of Cardiology 2006; all rights reserved
Received May 1, 2006
Revised July 6, 2006
Accepted July 20, 2006

Clinical research

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

Loizos Antoniades 1, Adalena Tsatsopoulou 2, Aris Anastasakis 3, Petros Syrris 4, Angeliki Asimaki 4, Demosthenes Panagiotakos 3, Costas Zambartas 1, Christodoulos Stefanadis 3, William J. McKenna 4, and Nikos Protonotarios 2 *

1 Department of Cardiology, Nicosia General Hospital, Nicosia, Cyprus
2 Department of Cardiology, Yannis Protonotarios Medical Centre, Naxos, Cyclades, Greece
3 1st Department of Cardiology, University of Athens, Athens, Greece
4 Department of Medicine, University College London and University College London Hospital Trust, London, UK

* To whom correspondence should be addressed.
Nikos Protonotarios, E-mail: nprotnaxos{at}altecnet.gr


  Abstract

Aims To evaluate clinical disease expression, non-invasive diagnosis, and prognosis in families with dominant vs. recessive arrhythmogenic right ventricular cardiomyopathy (ARVC) due to mutations in related desmosomal proteins plakophilin-2 (PKP2) and plakoglobin (JUP), respectively.

Methods and results One hundred and eighty-seven individuals belonging to ARVC families, four with dominant PKP2 mutations and 12 with recessive JUP mutation underwent serial non-invasive cardiac assessment. Survival and arrhythmic events were evaluated prospectively up to 21 years (median 8.5 years). Sixteen of 22 PKP2 carriers and all 26 homozygous JUP carriers fulfilled the diagnostic criteria for ARVC, the youngest by the age of 13 years. Clinical disease expression did not differ significantly between PKP2 and JUP carriers. T-wave inversion in leads V1-V3, right ventricular wall motion abnormalities, and frequent ventricular extrasystoles were the most sensitive/specific markers for identification of mutation carriers. QRS dispersion ≥40 ms was an independent predictor of syncope but not of sudden death.

Conclusion Mutations in PKP2 and JUP express similar cardiac phenotype. Non-invasive family screening may largely be based on T-wave inversion, right ventricular wall motion abnormalities, and frequent ventricular extrasystoles to identify mutation carriers.

Keywords: Cardiomyopathy; Cell adhesion molecules; Death; Sudden; Electrocardiography; Echocardiography.
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S. Sen-Chowdhry, P. Syrris, and W. J. McKenna
Role of Genetic Analysis in the Management of Patients With Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
J. Am. Coll. Cardiol., November 6, 2007; 50(19): 1813 - 1821.
[Abstract] [Full Text] [PDF]


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