TY  - JOUR
AU  - Oder, Daniel
AU  - Liu, Dan
AU  - Hu, Kai
AU  - Üçeyler, Nurcan
AU  - Salinger, Tim
AU  - Müntze, Jonas
AU  - Lorenz, Kristina
AU  - Kandolf, Reinhard
AU  - Gröne, Hermann-Josef
AU  - Sommer, Claudia
AU  - Ertl, Georg
AU  - Wanner, Christoph
AU  - Nordbeck, Peter
TI  - α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease.
JO  - Circulation / Cardiovascular genetics
VL  - 10
IS  - 5
SN  - 1942-3268
CY  - Philadelphia, Pa.
PB  - Lippincott, Williams & Wilkins
M1  - DKFZ-2017-06231
SP  - e001691 -
PY  - 2017
N1  - Herz-Kreislauf
AB  - 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
LB  - PUB:(DE-HGF)16
C6  - pmid:29018006
DO  - DOI:10.1161/CIRCGENETICS.116.001691
UR  - https://inrepo02.dkfz.de/record/131599
ER  -