TY  - JOUR
A1  - Drechsler, Christiane
A1  - Schmiedeke, Benjamin
A1  - Niemann, Markus
A1  - Schmiedeke, Daniel
A1  - Krämer, Johannes
A1  - Turkin, Irina
A1  - Blouin, Katja
A1  - Emmert, Andrea
A1  - Pilz, Stefan
A1  - Obermayer-Pietsch, Barbara
A1  - Wiedemann, Frank
A1  - Breunig, Frank
A1  - Wanner, Christoph
T1  - Potential role of vitamin D deficiency on Fabry cardiomyopathy
JF  - Journal of Inherited Metabolic Disease
N2  - Patients with Fabry disease frequently develop left ventricular (LV) hypertrophy and renal fibrosis. Due to heat intolerance and an inability to sweat, patients tend to avoid exposure to sunlight. We hypothesized that subsequent vitamin D deficiency may contribute to Fabry cardiomyopathy. This study investigated the vitamin D status and its association with LV mass and adverse clinical symptoms in patients with Fabry disease. 25-hydroxyvitamin D (25[OH]D) was measured in 111 patients who were genetically proven to have Fabry disease. LV mass and cardiomyopathy were assessed by magnetic resonance imaging and echocardiography. In cross-sectional analyses, associations with adverse clinical outcomes were determined by linear and binary logistic regression analyses, respectively, and were adjusted for age, sex, BMI and season. Patients had a mean age of 40 ± 13 years (42 % males), and a mean 25(OH)D of 23.5 ± 11.4 ng/ml. Those with overt vitamin D deficiency (25[OH]D ≤ 15 ng/ml) had an adjusted six fold higher risk of cardiomyopathy, compared to those with sufficient 25(OH)D levels >30 ng/ml (p = 0.04). The mean LV mass was distinctively different with 170 ± 75 g in deficient, 154 ± 60 g in moderately deficient and 128 ± 58 g in vitamin D sufficient patients (p = 0.01). With increasing severity of vitamin D deficiency, the median levels of proteinuria increased, as well as the prevalences of depression, edema, cornea verticillata and the need for medical pain therapy. In conclusion, vitamin D deficiency was strongly associated with cardiomyopathy and adverse clinical symptoms in patients with Fabry disease. Whether vitamin D supplementation improves complications of Fabry disease, requires a randomized controlled trial.
KW  - Fabry patient
KW  - urinary protein excretion
KW  - hypertrophic cardiomyopathy
KW  - renal fibrosis
KW  - left ventricular mass
KW  - LV mass
KW  - diabetic mouse
KW  - septal hypertrophy
KW  - Fabry nephropathy
KW  - cardiac hypertrophy
KW  - cornea verticillata
KW  - enzyme replacement therapy
Y1  - 2013
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-132102
VL  - 37
IS  - 2
ER  - 
TY  - JOUR
A1  - Seydelmann, Nora
A1  - Liu, Dan
A1  - Krämer, Johannes
A1  - Drechsler, Christiane
A1  - Hu, Kai
A1  - Nordbeck, Peter
A1  - Schneider, Andreas
A1  - Störk, Stefan
A1  - Bijnens, Bart
A1  - Ertl, Georg
A1  - Wanner, Christoph
A1  - Weidemann, Frank
T1  - High-Sensitivity Troponin: A Clinical Blood Biomarker for Staging Cardiomyopathy in Fabry Disease
JF  - Journal of the American Heart Association
N2  - Background
High‐sensitivity troponin (hs‐TNT), a biomarker of myocardial damage, might be useful for assessing fibrosis in Fabry cardiomyopathy. We performed a prospective analysis of hs‐TNT as a biomarker for myocardial changes in Fabry patients and a retrospective longitudinal follow‐up study to assess longitudinal hs‐TNT changes relative to fibrosis and cardiomyopathy progression.

Methods and Results
For the prospective analysis, hs‐TNT from 75 consecutive patients with genetically confirmed Fabry disease was analyzed relative to typical Fabry‐associated echocardiographic findings and total myocardial fibrosis as measured by late gadolinium enhancement (LE) on magnetic resonance imaging. Longitudinal data (3.9±2.0 years), including hs‐TNT, LE, and echocardiographic findings from 58 Fabry patients, were retrospectively collected. Hs‐TNT level positively correlated with LE (linear correlation coefficient, 0.72; odds ratio, 32.81 [95% CI, 3.56–302.59]; P=0.002); patients with elevated baseline hs‐TNT (>14 ng/L) showed significantly increased LE (median: baseline, 1.9 [1.1–3.3] %; follow‐up, 3.2 [2.3–4.9] %; P<0.001) and slightly elevated hs‐TNT (baseline, 44.7 [30.1–65.3] ng/L; follow‐up, 49.1 [27.6–69.5] ng/L; P=0.116) during follow‐up. Left ventricular wall thickness and EF of patients with elevated hs‐TNT were decreased during follow‐up, indicating potential cardiomyopathy progression.

Conclusions
hs‐TNT is an accurate, easily accessible clinical blood biomarker for detecting replacement fibrosis in patients with Fabry disease and a qualified predictor of cardiomyopathy progression. Thus, hs‐TNT could be helpful for staging and follow‐up of Fabry patients.
KW  - biomarker
KW  - cardiomyopathy
KW  - fabry disease
KW  - myocardial fibrosis
KW  - troponin T
Y1  - 2016
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-165682
VL  - 5
IS  - e002839
ER  -