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 ≈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 families (282 asympto... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2011 |
Reihe/Periodikum: | Circulation ; volume 123, issue 23, page 2690-2700 ; ISSN 0009-7322 1524-4539 |
Verlag/Hrsg.: |
Ovid Technologies (Wolters Kluwer Health)
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Schlagwörter: | Physiology (medical) / Cardiology and Cardiovascular Medicine |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-26657480 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | http://dx.doi.org/10.1161/circulationaha.110.988287 |