%0 Journal Article
%A Oder, Daniel
%A Liu, Dan
%A Hu, Kai
%A Üçeyler, Nurcan
%A Salinger, Tim
%A Müntze, Jonas
%A Lorenz, Kristina
%A Kandolf, Reinhard
%A Gröne, Hermann-Josef
%A Sommer, Claudia
%A Ertl, Georg
%A Wanner, Christoph
%A Nordbeck, Peter
%T α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease.
%J Circulation / Cardiovascular genetics
%V 10
%N 5
%@ 1942-3268
%C Philadelphia, Pa.
%I Lippincott, Williams & Wilkins
%M DKFZ-2017-06231
%P e001691 -
%D 2017
%Z Herz-Kreislauf
%X Hypertrophic cardiomyopathy is the most common type of cardiomyopathy, but many patients lack sarcomeric/myofilament mutations. We studied whether cardio-specific α-galactosidase A gene variants are misinterpreted as hypertrophic cardiomyopathy because of the lack of extracardiac organ involvement.All subjects who tested positive for the N215S genotype (n=26, 13 females, mean age 49±17 [range, 14-74] years) were characterized in this prospective monocentric longitudinal cohort study to determine genotype-specific clinical characteristics of the N215S (c.644A>G [p.Asn215Ser]) α-galactosidase A gene variant. All subjects were initially referred with suspicion of genetically determined hypertrophic cardiomyopathy. Cardiac hypertrophy (interventricular septum, 12±4 [7-23] mm; left ventricular posterior wall, 11±4 [7-21] mm; left ventricular mass, 86±41 [46-195] g/m2) was progressive, systolic function mainly preserved (cardiac index 2.8±0.6 [1.9-3.9] L/min per m2), and diastolic function mildly abnormal. Cardiac magnetic resonance imaging revealed replacement fibrosis in loco typico (18/26, 69
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:29018006
%R 10.1161/CIRCGENETICS.116.001691
%U https://inrepo02.dkfz.de/record/131599