Desmoglein-2 and Desmocollin-2 Mutations in Dutch Arrhythmogenic Right Ventricular Dysplasia/Cardiomypathy Patients
نویسندگان
چکیده
Zahurul A. Bhuiyan, MD, PhD; Jan D.H. Jongbloed, PhD; Jasper van der Smagt, MD; Paola M. Lombardi, PhD; Ans C.P. Wiesfeld, MD, PhD; Marcel Nelen, PhD; Meyke Schouten, MD, PhD; Roselie Jongbloed, PhD; Moniek G.P.J. Cox, MD; Marleen van Wolferen, MSc; Luz M. Rodriguez, MD, PhD†; Isabelle C. van Gelder, MD, PhD; Hennie Bikker, PhD; Albert J.H. Suurmeijer, MD, PhD; Maarten P. van den Berg, MD, PhD; Marcel M.A.M. Mannens, PhD; Richard N.W. Hauer, MD, PhD; Arthur A.M. Wilde, MD, PhD; J. Peter van Tintelen, MD, PhD
منابع مشابه
Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study.
BACKGROUND This study aimed to evaluate the prevalence and type of mutations in the major desmosomal genes, Plakophilin-2 (PKP2), Desmoglein-2 (DSG2), and Desmocollin-2 (DSC2), in arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) patients. We also aimed to distinguish relevant clinical and ECG parameters. METHODS AND RESULTS Clinical evaluation was performed according to the ...
متن کاملOriginal Articles Desmoglein-2 and Desmocollin-2 Mutations in Dutch Arrhythmogenic Right Ventricular Dysplasia/Cardiomypathy Patients Results From a Multicenter Study
Zahurul A. Bhuiyan, MD, PhD; Jan D.H. Jongbloed, PhD; Jasper van der Smagt, MD; Paola M. Lombardi, PhD; Ans C.P. Wiesfeld, MD, PhD; Marcel Nelen, PhD; Meyke Schouten, MD, PhD; Roselie Jongbloed, PhD; Moniek G.P.J. Cox, MD; Marleen van Wolferen, MSc; Luz M. Rodriguez, MD, PhD†; Isabelle C. van Gelder, MD, PhD; Hennie Bikker, PhD; Albert J.H. Suurmeijer, MD, PhD; Maarten P. van den Berg, MD, PhD;...
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AIMS Arrhythmogenic right ventricular Dysplasia/cardiomyopathy (ARVD/C) is an autosomal dominant inherited cardiomyopathy associated with ventricular arrhythmia, heart failure and sudden death. Genetic studies have demonstrated the central role of desmosomal proteins in this disease, where 50% of patients harbor a mutation in a desmosmal gene. However, clinical diagnosis of the disease remains ...
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Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a life-threatening inherited cardiomyopathy with an estimated prevalence of 1 per 5000 individuals characterized by the replacement of the cardiac myocytes with fibrofatty tissue leading to ventricular arrhythmias, right ventricular failure, and sudden cardiac death. ARVD/C is commonly inherited in an autosomal dominant manne...
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