Τίτλος:
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
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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. © The European Society of Cardiology 2006. All rights reserved.
Συγγραφείς:
Antoniades, L.
Tsatsopoulou, A.
Anastasakis, A.
Syrris, P.
Asimaki, A.
Panagiotakos, D.
Zambartas, C.
Stefanadis, C.
McKenna, W.J.
Protonotarios, N.
Περιοδικό:
EUROPEAN HEART JOURNAL-CARDIOVASCULAR PHARMACOTHERAPY
Λέξεις-κλειδιά:
plakoglobin; plakophilin 2; unclassified drug, adolescent; adult; age; aged; article; clinical feature; controlled study; Cyprus; dominant inheritance; evaluation; female; gene; gene deletion; genotype phenotype correlation; Greece; heart right ventricle dysplasia; heart ventricle extrasystole; heart ventricle wall motion; heterozygote; homozygosity; human; human tissue; jup gene; major clinical study; male; non invasive measurement; phenotype; PKP2 gene; prediction; priority journal; prognosis; prospective study; QRS complex; qrs dispersion; recessive inheritance; school child; sensitivity and specificity; sudden death; survival rate; survival time; syncope; T wave inversion, Adolescent; Adult; Arrhythmogenic Right Ventricular Dysplasia; Child; Cyprus; Disease-Free Survival; Echocardiography; Electrocardiography, Ambulatory; Female; gamma Catenin; Gene Deletion; Genotype; Greece; Heterozygote; Homozygote; Humans; Male; Pedigree; Phenotype; Plakophilins; Prognosis; Risk Assessment
DOI:
10.1093/eurheartj/ehl184
