BACKGROUND: Fabry disease (FD) is an inherited X-chromosomal lysosomal storage disease resulting in intracellular storage of globotriaosylceramide. Cardiac involvement is most frequently manifested as left ventricular hypertrophy (LVH). However, patients with FD may also have various conduction abnormalities before LVH develops. The present study was designed to analyse early conduction abnormalities on baseline ECG of patients with FD and to investigate their diagnostic value. METHODS AND RESULTS: Baseline electrocardiographic (ECG) and echocardiographic measurements of patients with FD (n = 30) were compared with those of heart rate and age-matched healthy individuals (n = 50). The PQ-interval (131 ± 18 vs 155 ± 20 ms, p < 0.000001) and the QRS width (83 ± 11 vs 90 ± 9 ms, p < 0.05) were significantly shorter and repolarisation dispersion was more pronounced in patients with FD (QTc dispersion: 66 ± 32 vs 40 ± 24 ms, p < 0.001, T(peak)-T(end) dispersion: 56 ± 20 vs 37 ± 16 ms, p < 0.0005). Moreover, P-wave duration was significantly shorter (74 ± 16 vs 105 ± 14 ms, p < 0.000001) in FD and accounted predominantly for the shortening of the PQ-interval. P-wave duration showed a 92% sensitivity and 80% specificity for the diagnosis of FD. CONCLUSIONS: P-wave duration, PQ-interval and QRS width are shorter and repolarisation dispersion more pronounced in patients with FD compared with heart rate and age-matched controls. The significant shortening of the PQ-interval in FD occurs because of a marked shortening of the P-wave duration, which in itself demonstrated a high sensitivity and specificity for early detection and treatment of this disease.
BACKGROUND:Fabry disease (FD) is an inherited X-chromosomal lysosomal storage disease resulting in intracellular storage of globotriaosylceramide. Cardiac involvement is most frequently manifested as left ventricular hypertrophy (LVH). However, patients with FD may also have various conduction abnormalities before LVH develops. The present study was designed to analyse early conduction abnormalities on baseline ECG of patients with FD and to investigate their diagnostic value. METHODS AND RESULTS: Baseline electrocardiographic (ECG) and echocardiographic measurements of patients with FD (n = 30) were compared with those of heart rate and age-matched healthy individuals (n = 50). The PQ-interval (131 ± 18 vs 155 ± 20 ms, p < 0.000001) and the QRS width (83 ± 11 vs 90 ± 9 ms, p < 0.05) were significantly shorter and repolarisation dispersion was more pronounced in patients with FD (QTc dispersion: 66 ± 32 vs 40 ± 24 ms, p < 0.001, T(peak)-T(end) dispersion: 56 ± 20 vs 37 ± 16 ms, p < 0.0005). Moreover, P-wave duration was significantly shorter (74 ± 16 vs 105 ± 14 ms, p < 0.000001) in FD and accounted predominantly for the shortening of the PQ-interval. P-wave duration showed a 92% sensitivity and 80% specificity for the diagnosis of FD. CONCLUSIONS: P-wave duration, PQ-interval and QRS width are shorter and repolarisation dispersion more pronounced in patients with FD compared with heart rate and age-matched controls. The significant shortening of the PQ-interval in FD occurs because of a marked shortening of the P-wave duration, which in itself demonstrated a high sensitivity and specificity for early detection and treatment of this disease.
Authors: Markus Niemann; Tanja Hartmann; Mehdi Namdar; Frank Breunig; Meinrad Beer; Wolfram Machann; Sebastian Herrmann; Georg Ertl; Christoph Wanner; Frank Weidemann Journal: J Inherit Metab Dis Date: 2012-10-11 Impact factor: 4.982
Authors: Johannes Krämer; Peter Nordbeck; Stefan Störk; Christian Ritter; Georg Ertl; Christoph Wanner; Frank Weidemann Journal: JIMD Rep Date: 2015-10-27