Reversal of cardiac dysfunction after enzyme replacement in patients with infantile-onset Pompe disease.
OBJECTIVE
To compare the effects of enzyme replacement therapy (ERT) on cardiac performance in symptomatic and symptom-free infants with Pompe disease.


METHODS
Patients diagnosed between 1983 and 2008 were identified. Before the initiation of ERT, systolic dysfunction appeared only in patients > or = 5 months; thus we used this cut-point in age to divide clinically symptomatic patients into early and late treatment groups (Clin-E and Clin-L). Newborn screening (NBS) identified symptom-free patients.


RESULTS
Among a total of 40 patients, 14 received ERT: 5 in the Clin-L, 4 in the Clin-E, and 5 in the NBS groups. All patients showed cardiomegaly, hypertrophic myocardium, and elevated B-type natriuretic peptide (measured in the Clin-E and NBS groups). ERT improved the survival and outcomes. Regressed myocardial hypertrophy and lowered B-type natriuretic peptide level occurred after 1 to 6 months of ERT. Nonetheless, there were 2 deaths and 2 survivors requiring ventilator support in the Clin-L group. Despite the regressed QRS voltage and shortened QT dispersion, life-threatening arrhythmias were still observed in 3, but none in the NBS group.


CONCLUSIONS
ERT may restore the cardiac function in both symptomatic and symptom-free patients, but the beneficial effect may be unpredictable if given after the age of 5 months.
Chen
Lei-Ru
LR
Department of Pediatrics, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan.
Chen
Chun-An
CA
Chiu
Shuenn-Nan
SN
Chien
Yin-Hsiu
YH
Lee
Ni-Chung
NC
Lin
Ming-Tai
MT
Hwu
Wuh-Liang
WL
Wang
Jou-Kou
JK
Wu
Mei-Hwan
MH
D006332:Cardiomegaly / Q000188:drug therapy* / Q000209:etiology; D004562:Electrocardiography; D006009:Glycogen Storage Disease Type II / Q000097:blood / Q000150:complications / Q000188:drug therapy*; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000188:drug therapy* / Q000209:etiology; D007223:Infant; D020097:Natriuretic Peptide, Brain / Q000097:blood; D011446:Prospective Studies; D013318:Stroke Volume / Q000187:drug effects*; D013610:Tachycardia / Q000209:etiology; D000520:alpha-Glucosidases / Q000627:therapeutic use*
D020097:Natriuretic Peptide, Brain; D000520:alpha-Glucosidases