Use of cardiac magnetic resonance imaging to evaluate cardiac structure, function and fibrosis in children with infantile Pompe disease on enzyme replacement therapy.

ABSTRACT:

Background

Pompe disease (acid α-glucosidase deficiency) is one of several lysosomal storage diseases amenable to treatment with enzyme replacement therapy (ERT). While echocardiography (echo) has been the standard method to evaluate the cardiac response to ERT, cardiac magnetic resonance imaging (CMR) has the advantage of a better tissue definition and characterization of myocardial fibrosis. However, CMR for Pompe disease is not frequently performed due to a high risk of sedation. We report the first use of CMR in a feasible protocol to quantify left ventricular (LV) mass, function, and the presence of myocardial fibrosis in the Pompe population.

Methods

Children with Pompe disease on ERT were assessed with transthoracic echo and CMR over a 3 year period at a single instit

SUBMITTER: Barker PC 

PROVIDER: S-EPMC2991632 | biostudies-literature | 2010 Dec

REPOSITORIES: biostudies-literature