Cardiomyopathy in Late Onset Pompe Disease Diagnosed by Cardiac MRI: A Case Series (P4.088)
Abstract
OBJECTIVE: Utilizing cardiac MRI to explore the hypothesis that late onset Pompe disease (LOPD) may be associated with a higher prevalence of cardiomyopathy than currently described in the literature.
BACKGROUND: Unlike the infantile form of Pompe disease that has known cardiovascular sequela, the association of cardiovascular pathology with the adult onset form continues to be a subject of debate. Our recent unpublished data suggests that patients with muscular dystrophy undergo a unique form of cardiac remodeling, distinct from other known forms, and that cardiac MRI may be a more sensitive method for detecting cardiomyopathy in these patients. To our knowledge there are currently no similar studies using cardiac MRI to investigate the cardiac function of patients with LOPD.
DESIGN/METHODS: In this case report of two patients with LOPD, we utilized cardiac MRI to detect changes in the following cardiac parameters; left ventricular ejection fraction (LVEF), left ventricular end diastolic volume (LVEDV), right ventricular end diastolic volume (RVEDV), and left ventricular mass (LVM).
RESULTS: The two patients examined had subtle but significant changes in one or more of the measured cardiac parameters. The first patient, a 32 year old woman, had a low normal LVEF (62[percnt], NR* 62-72[percnt]), an increased LVEDV (146.3 mL, NR 73-199 mL), an increased RVEDV (139.2 mL, NR 82-130 mL), and a decreased LVM (75.2 gm, NR 99-151 gm). The second patient, a 30 year old man, had a…
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Evidence Hub reads this as a case series, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
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