natriuretic-peptide--brain and Glycogen-Storage-Disease-Type-II

To compare the effects of enzyme replacement therapy (ERT) on cardiac performance in symptomatic and symptom-free infants with Pompe disease.. 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.. 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.. 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.

Topics: alpha-Glucosidases; Cardiomegaly; Electrocardiography; Glycogen Storage Disease Type II; Humans; Hypertrophy, Left Ventricular; Infant; Natriuretic Peptide, Brain; Prospective Studies; Stroke Volume; Tachycardia

Infantile Pompe's disease is a glycogen storage disorder. Untreated it is lethal within the first year of life. Initial clinical trials with recombinant human acid alpha-glucosidase (rhGAA) have shown enzyme replacement therapy to improve cardiac and skeletal muscle function. B-type natriuretic peptide (BNP) is a neurohormone released by cardiac cells and increasingly used for monitoring heart failure in adults. We report on two infants affected by infantile Pompe's disease and treated with rhGAA, in whom cardiac function was supervised by BNP determination during the first 52 and 26 weeks of life, respectively. In the first patient, BNP (normal < 50 ng/l) increased from 475 (week 4) to 2417 ng/l (week 13) before, and declined continuously from 2696 (week 18) to 107 (week 52) after initiation of rhGAA-treatment. BNP-values reflected improvement of cardiac function earlier than echocardiography. In the second, earlier treated subject, BNP-values were only moderately elevated (86 ng/1) except two determinations timely linked to port implantation. In both patients, BNP levels correlated well with the severity of heart failure when using the NYHA classification modified for infants. These observations illustrate that BNP may be a valuable parameter for surveillance of cardiac function in Pompe's disease.

Topics: alpha-Glucosidases; Electrocardiography; Environmental Monitoring; Glycogen Storage Disease Type II; Heart Failure; Humans; Natriuretic Peptide, Brain; Recombinant Proteins