Use of cardiac magnetic resonance imaging to evaluate cardiac structure, function and fibrosis in children with infantile Pompe disease on enzyme replacement therapy.
Use of cardiac magnetic resonance imaging to evaluate cardiac structure, function and fibrosis in children with infantile Pompe disease on enzyme replacement therapy.
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DOI：
10.1016/j.ymgme.2010.07.011
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发表时间：
2010-12
影响因子：
3.8
通讯作者：
Campbell, Michael J.
中科院分区：
文献类型：
--
作者：
Barker, Piers C. A.;Pasquali, Sara K.;Darty, Stephen;Ing, Richard J.;Li, Jennifer S.;Kim, Raymond J.;DeArmey, Stephanie;Kishnani, Priya S.;Campbell, Michael J.
关键词：
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 better tissue definition and characterization of myocardial fibrosis. However, CMR for Pompe disease is not frequently performed due to the high risk of sedation. We report the first use of CMR in a feasible protocol to quantify left ventricular (LV) mass, function, and presence of myocardial fibrosis in the Pompe population. Children with Pompe disease on ERT were assessed with transthoracic echo and CMR over a 3 year period at a single institution. Echocardiography was performed using standard techniques without sedation. CMR was performed using retrospectively gated and real-time imaging, with and without sedation. LV mass indexed to body surface area (LVMI) and ejection fraction (EF) were measured by both echo and CMR, and evaluated for change over time. Myocardial fibrosis was assessed with CMR by delayed enhancement imaging 5-10 min after gadolinium contrast using single-shot inversion recovery sequences with inversion time set to null the myocardium. Seventeen CMR scans were successfully performed in 10 subjects with Pompe disease (median age at first CMR 9 months, range 1-38 months, 80% male), with sedation only performed for 4 studies. There was a median interval of 5 months (range 0-34 months) from start of ERT to first CMR (baseline). At baseline, median indexed LVMI by CMR (140.0 g/m2, range 43.8-334.0) tended to be lower than that assessed by echo (median 204.0 g/m2, range 52.0-385.0), but did not reach statistical significance. At baseline, CMR EF was similar to that assessed by echo (55% vs. 55%). Overall, there was not a significant decrease in CMR measured LVMI over time (CMR median LVMI at baseline 94 g/m2 (range 43.8-334) vs. CMR median at most recent study 44.5 g/m2 (range 34-303), p=0.44). In 5 patients with serial CMR scans over time, LVMI decreased in 2, was similar in 2, and increased in 1 patient with high sustained antibodies to exogenous enzyme. Delayed enhancement was noted in only l separate patient who also had high sustained antibodies to exogenous enzyme. CMR is a useful imaging tool that is feasible to use to serially follow LVMI and EF in children with Pompe disease on ERT. Real-time imaging is adequate for quantification purposes in these patients and minimizes the need for sedation. Quantitative CMR LVMI is generally lower than echo derived LVMI. Delayed enhancement appears to be a rare finding by CMR in Pompe Disease. Further follow-up is necessary to better understand the long term effects of ERT in infantile Pompe survivors, especially those with high sustained antibody titers or advanced cardiac disease at treatment outset.
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DOI：
10.1097/gim.0b013e318183722f
发表时间：
2008-10
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
McDowell R;Li JS;Benjamin DK Jr;Morgan C;Becker A;Kishnani PS;Kanter RJ
通讯作者：
Kanter RJ
影响因子：
2.8
作者：
Klinge, L;Straub, V;Voit, T
通讯作者：
Voit, T
影响因子：
8.8
作者：
Amalfitano, A;Bengur, AR;Chen, YT
通讯作者：
Chen, YT
影响因子：
5.7
作者：
Hughes, D. A.;Elliott, P. M.;Mehta, A. B.
通讯作者：
Mehta, A. B.
影响因子：
39.3
作者：
Moon, JCC;Sachdev, B;Elliott, PM
通讯作者：
Elliott, PM