Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Pathogenic Desmosome Mutations in Index-Patients Predict Outcome of Family Screening: Dutch Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Genotype-Phenotype Follow-Up Study
Background-Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an autosomal dominant inherited disease with incomplete penetrance and variable expression. Causative mutations in genes encoding 5 desmosomal proteins are found in approximate to 50% of ARVD/C index patients. Previous genotype-phenotype relation studies involved mainly overt ARVD/C index patients, so follow-up data on relatives are scarce. Methods and Results-One hundred forty-nine ARVD/C index patients (111 male patients; age, 49 +/- 13 years) according to 2010 Task Force criteria and 302 relatives from 93 famil... Mehr ...
Verfasser: |
Cox, Moniek G. P. J.
van der Zwaag, Paul A.
van der Werf, Christian
van der Smagt, Jasper J.
Noorman, Maartje
Bhuiyan, Zahir A.
Wiesfeld, Ans C. P.
Volders, Paul G. A.
van Langen, Irene M.
Atsma, Douwe E.
Dooijes, Dennis
van den Wijngaard, Arthur
Houweling, Arjan C.
Jongbloed, Jan D. H.
Jordaens, Luc J. L. M.
Cramer, Maarten Jan
Doevendans, Pieter A.
de Bakker, Jacques M. T.
Wilde, Arthur A. M.
van Tintelen, J. Peter
Hauer, Richard N. W. |
Dokumenttyp: |
Artikel |
Erscheinungsdatum: |
2011 |
Reihe/Periodikum: |
Cox , M G P J , van der Zwaag , P A , van der Werf , C , van der Smagt , J J , Noorman , M , Bhuiyan , Z A , Wiesfeld , A C P , Volders , P G A , van Langen , I M , Atsma , D E , Dooijes , D , van den Wijngaard , A , Houweling , A C , Jongbloed , J D H , Jordaens , L J L M , Cramer , M J , Doevendans , P A , de Bakker , J M T , Wilde , A A M , van Tintelen , J P & Hauer , R N W 2011 , ' Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Pathogenic Desmosome Mutations in Index-Patients Predict Outcome of Family Screening: Dutch Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Genotype-Phenotype Follow-Up Study ' , Circulation , vol. 123 , no. 23 , pp. 2690-2700 . https://doi.org/10.1161/CIRCULATIONAHA.110.988287 |
Schlagwörter: |
arrhythmogenic right ventricular dysplasia
/ cardiomyopathy
/ desmosome
/ follow-up studies
/ genetics |
Sprache: |
Englisch |
Permalink: |
https://search.fid-benelux.de/Record/base-26663977 |
Datenquelle: |
BASE;
Originalkatalog |
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Link(s) :
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https://cris.maastrichtuniversity.nl/en/publications/304c728d-57b3-426b-beb1-53d568810cb9 |