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| 001 | 131599 | ||
| 005 | 20240228145608.0 | ||
| 024 | 7 | _ | |a 10.1161/CIRCGENETICS.116.001691 |2 doi |
| 024 | 7 | _ | |a pmid:29018006 |2 pmid |
| 024 | 7 | _ | |a 1942-325X |2 ISSN |
| 024 | 7 | _ | |a 1942-3268 |2 ISSN |
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| 037 | _ | _ | |a DKFZ-2017-06231 |
| 041 | _ | _ | |a eng |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Oder, Daniel |b 0 |
| 245 | _ | _ | |a α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease. |
| 260 | _ | _ | |a Philadelphia, Pa. |c 2017 |b Lippincott, Williams & Wilkins |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1524660098_18426 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 500 | _ | _ | |a Herz-Kreislauf |
| 520 | _ | _ | |a 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%), particularly in subjects >50 years. Elderly subjects had advanced heart failure, and 6 (23%) were suggested for implantable cardioverter-defibrillator therapy. Leukocyte α-galactosidase A enzyme activity was mildly reduced in 19 subjects and lyso-globotriaosylceramide slightly elevated (median, 4.9; interquartile range, 1.3-9.1 ng/mL). Neurological and renal impairments (serum creatinine, 0.87±0.20; median, 0.80; interquartile range, 0.70-1.01 mg/dL; glomerular filtration rate, 102±23; median, 106; interquartile range, 84-113 mL/min) were discreet. Only 2 subjects developed clinically relevant proteinuria.α-Galactosidase A genotype N215S does not lead to the development of a classical Fabry phenotype but induces a specific cardiac variant of Fabry disease mimicking nonobstructive hypertrophic cardiomyopathy. The lack of prominent noncardiac impairment leads to a significant delay in diagnosis and Fabry-specific therapy. |
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| 700 | 1 | _ | |a Liu, Dan |b 1 |
| 700 | 1 | _ | |a Hu, Kai |b 2 |
| 700 | 1 | _ | |a Üçeyler, Nurcan |b 3 |
| 700 | 1 | _ | |a Salinger, Tim |b 4 |
| 700 | 1 | _ | |a Müntze, Jonas |b 5 |
| 700 | 1 | _ | |a Lorenz, Kristina |b 6 |
| 700 | 1 | _ | |a Kandolf, Reinhard |b 7 |
| 700 | 1 | _ | |a Gröne, Hermann-Josef |0 P:(DE-He78)00a2ea610aee4a8fca32908fc3d02e91 |b 8 |u dkfz |
| 700 | 1 | _ | |a Sommer, Claudia |b 9 |
| 700 | 1 | _ | |a Ertl, Georg |b 10 |
| 700 | 1 | _ | |a Wanner, Christoph |b 11 |
| 700 | 1 | _ | |a Nordbeck, Peter |b 12 |
| 773 | _ | _ | |a 10.1161/CIRCGENETICS.116.001691 |g Vol. 10, no. 5, p. e001691 - |0 PERI:(DE-600)2457085-0 |n 5 |p e001691 - |t Circulation / Cardiovascular genetics |v 10 |y 2017 |x 1942-3268 |
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