TY - JOUR
T1 - Cardiac evaluation in children and adults with Pompe disease sharing the common c.-32-13T > G genotype rarely reveals abnormalities
AU - van der Beek, N.A.M.E.
AU - Soliman, Osama
AU - Capelle, Carine
AU - Geleijnse, Marcel
AU - Vletter, Wim
AU - Haan, Marian
AU - Reuser, Arnold
AU - Mulder, Ingrid
AU - van Doorn, Pieter
AU - van der Ploeg, Ans
PY - 2008
Y1 - 2008
N2 - Background and objective: Pompe disease is an inherited metabolic disorder caused by deficiency of acid alpha-glucosidase. All affected neonates have a severe hypertrophic cardiomyopathy, leading to cardiac failure and death within the first year of life. We investigated the presence and extent of cardiac involvement in children and adults with Pompe disease with the common c.-32-13T>G genotype to determine the usefulness of cardiac screening in these patients with relatively 'milder' phenotypes. Methods: Cardiac dimensions and function were evaluated through echocardiography, electrocardiography and Holter monitoring. The total group comprised 68 patients with Pompe disease, of whom 22 patients had disease onset before the age of 18. Results: Two patients (3%) had cardiac abnormalities possibly related to Pompe disease: Electrocardiography showed a Wolff-Parkinson-White pattern in an 8-year-old girl, and one severely affected adult patient had a mild hypertrophic cardiomyopathy. This hypertrophy did not change during treatment with recombinant human a-glucosidase. In addition, four adult patients showed minor cardiac abnormalities which did not exceed the prevalence in the general population and were attributed to advanced age, hypertension or preexisting cardiac pathology unrelated to Pompe disease. Conclusions: Cardiac involvement is rare in Pompe patients with the common c.-32-13T>G genotype, The younger patients were not more frequently affected than the adults. Electrocardiographic evaluation appears to be appropriate as initial screening tool. Extensive cardiac Screening seems indicated only if the electrocardiogram is abnormal OF the patient has a history of cardiac disease. (C) 2008 Elsevier B.V. All rights reserved.
AB - Background and objective: Pompe disease is an inherited metabolic disorder caused by deficiency of acid alpha-glucosidase. All affected neonates have a severe hypertrophic cardiomyopathy, leading to cardiac failure and death within the first year of life. We investigated the presence and extent of cardiac involvement in children and adults with Pompe disease with the common c.-32-13T>G genotype to determine the usefulness of cardiac screening in these patients with relatively 'milder' phenotypes. Methods: Cardiac dimensions and function were evaluated through echocardiography, electrocardiography and Holter monitoring. The total group comprised 68 patients with Pompe disease, of whom 22 patients had disease onset before the age of 18. Results: Two patients (3%) had cardiac abnormalities possibly related to Pompe disease: Electrocardiography showed a Wolff-Parkinson-White pattern in an 8-year-old girl, and one severely affected adult patient had a mild hypertrophic cardiomyopathy. This hypertrophy did not change during treatment with recombinant human a-glucosidase. In addition, four adult patients showed minor cardiac abnormalities which did not exceed the prevalence in the general population and were attributed to advanced age, hypertension or preexisting cardiac pathology unrelated to Pompe disease. Conclusions: Cardiac involvement is rare in Pompe patients with the common c.-32-13T>G genotype, The younger patients were not more frequently affected than the adults. Electrocardiographic evaluation appears to be appropriate as initial screening tool. Extensive cardiac Screening seems indicated only if the electrocardiogram is abnormal OF the patient has a history of cardiac disease. (C) 2008 Elsevier B.V. All rights reserved.
U2 - 10.1016/j.jns.2008.07.013
DO - 10.1016/j.jns.2008.07.013
M3 - Article
SN - 0022-510X
VL - 275
SP - 46
EP - 50
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
IS - 1-2
ER -