Early cardiac changes in children with anderson-fabry disease

JIMD Rep. 2013;11:53-64. doi: 10.1007/8904_2013_222. Epub 2013 Apr 2.


Objective: Limited evidence is available about the early cardiac manifestation of Fabry disease (FD) in children. We aimed to evaluate cardiac involvement in children with FD by analysing serial structural and electrocardiographic changes.

Methods: The data were acquired from 22 children with FD [11 males; median age 9.8 (ranging 2.5-16) years]. Seven patients (5 males) were on enzyme replacement therapy (ERT) with Agalasidase alpha. Echocardiography, ECG and 24-h ECG monitoring recordings were acquired during routine annual clinical controls. ECG data were compared to a group of age-and gender-matched controls.

Results: At baseline, ECG and ECHO parameters of left ventricular mass were similar in both males and females. Three boys (all were on ERT) developed left ventricular hypertrophy (LVH) during two-year follow-up. The progression to LVH was accompanied by the appearance of frequent ventricular premature beats in two cases and supraventricular premature beats (SPBs) with T wave inversion in one case. T wave inversion and SPBs were detected in two younger relatives of a patient with LVH, in the absence of detectable LVH. Seven out of 22 patients had T wave abnormalities. Five of them were males (p = 0.03) all carrying the N215S mutation (p = 0.03). At baseline, median PR intervals were prolonged in FD subjects compared to controls [143 (122-177) vs. 122 (82-165) ms; p < 0.0001].

Conclusions: Cardiac complications of FD become apparent in childhood as subtle changes with slow but detectable progression over time, with males more frequently affected than females. Progression of LVH was apparent in three children despite ERT.