Cardiac disease in children and young adults with various lysosomal storage diseases: Comparison of echocardiographic and ECG changes among clinical groups.

BACKGROUND

Lysosomal storage disease (LSD) is a rare inherited disease group. Consecutively there are few data on cardiac changes in mucopolysaccharidosis (MPS), Anderson Fabry disease (AFD), and other LSD (oLSD) including Pompe disease (PD) and Danon disease (DD), I-cell disease ICD and mucolipidosis III (ML III).

METHODS

Between 1994 and 2011, we identified 39 patients with LSD: 25 with MPS, 8 with AFD, and 6 with oLSD including PD (1), ML III (2), DD (1), and ICD (2) at our institution fulfilling the inclusion criteria of at least one echocardiogram and ECG.

RESULTS

Median age was 11.4 years (range: 2-27), 22 were females (56%). Normal echocardiograms were present in 12 patients (31%): 4 with MPS (16%), 7 AFD (88%), and 1 oLSD (17%). Valvular heart disease was present in 23 patients (59%) occurring more often in MPS (76%) and oLSD (67%) than in AFD (0%) (p < 0.001). The most common ECG abnormality was a short PR interval in 10 of 35 patients (29%) occurring in all LSD groups. Median follow-up was 5.8 (0.2-22.2) years showing diminished 5-year survival compared to an age-matched group. However, no patient died due to a cardiac cause and no cardiovascular intervention was necessary.

CONCLUSION

Echocardiographically detectable cardiovascular involvement in children with LSD is mostly confined to MPS and oLSD. Valve thickening in echo and a short PR interval in the ECG are the most frequent abnormalities. Routine repeat assessment is recommended in LSD. However, significant cardiac disease necessitating cardiac intervention is rare during a short follow-up.