{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T16:45:00Z","timestamp":1773420300924,"version":"3.50.1"},"reference-count":29,"publisher":"American Physiological Society","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Physiological Genomics"],"published-print":{"date-parts":[[2001,4,27]]},"abstract":"<jats:p>Pompe\u2019s disease is an autosomal recessive and often fatal condition, caused by mutations in the acid \u03b1-glucosidase gene, leading to lysosomal glycogen storage in heart and skeletal muscle. We investigated the cardiac phenotype of an acid \u03b1-glucosidase knockout (KO) mouse model. Left ventricular weight-to-body weight ratios were increased 6.3 \u00b1 0.8 mg\/g in seven KO compared with 3.2 \u00b1 0.2 mg\/g in eight wild-type (WT) mice ( P &lt; 0.05). Echocardiography under ketamine-xylazine anesthesia revealed an increased left ventricular (LV) wall thickness (2.17 \u00b1 0.16 in KO vs. 1.18 \u00b1 0.10 mm in WT mice, P &lt; 0.05) and a decreased LV lumen diameter (2.50 \u00b1 0.32 in KO vs. 3.21 \u00b1 0.14 mm in WT mice, P &lt; 0.05), but LV diameter shortening was not different between KO and WT mice. The maximum rate of rise of left ventricular pressure (LV dP\/d t<jats:sub>max<\/jats:sub>) was lower in KO than in WT mice under basal conditions (2,720 \u00b1 580 vs. 4,440 \u00b1 440 mmHg\/s) and during dobutamine infusion (6,220 \u00b1 800 vs. 8,730 \u00b1 790 mmHg\/s, both P &lt; 0.05). Similarly, during isoflurane anesthesia LV dP\/d t<jats:sub>max<\/jats:sub>was lower in KO than in WT mice under basal conditions (5,400 \u00b1 670 vs. 8,250 \u00b1 710 mmHg\/s) and during norepinephrine infusion (10,010 \u00b1 1,320 vs. 14,710 \u00b1 220 mmHg\/s, both P &lt; 0.05). In conclusion, the markedly increased LV weight and wall thickness, the encroachment of the LV lumen, and LV dysfunction reflect cardiac abnormalities, although not as overt as in humans, of human infantile Pompe\u2019s disease and make these mice a suitable model for further investigation of pathophysiology and of novel therapies of Pompe\u2019s disease.<\/jats:p>","DOI":"10.1152\/physiolgenomics.2001.5.4.171","type":"journal-article","created":{"date-parts":[[2017,12,23]],"date-time":"2017-12-23T22:41:01Z","timestamp":1514068861000},"page":"171-179","source":"Crossref","is-referenced-by-count":23,"title":["Cardiac remodeling and contractile function in acid \u03b1-glucosidase knockout mice"],"prefix":"10.1152","volume":"5","author":[{"given":"JOEP H. 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J.","family":"REUSER","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"ANS T.","family":"VAN DER PLOEG","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Sophia Children\u2019s Hospital Rotterdam, Rotterdam, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"PIETER D.","family":"VERDOUW","sequence":"additional","affiliation":[{"name":"Experimental Cardiology, Thoraxcenter, Erasmus University Rotterdam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"DIRK J.","family":"DUNCKER","sequence":"additional","affiliation":[{"name":"Experimental Cardiology, Thoraxcenter, Erasmus University Rotterdam"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"24","reference":[{"key":"R1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02265613"},{"key":"R2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.1.53"},{"key":"R3","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.12.2145"},{"key":"R4","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-9896(199911)189:3<416::AID-PATH445>3.0.CO;2-6"},{"key":"R5","unstructured":"Bonnici F, Shapiro R, Joffe HS, and Petersen EM.Angiocardiographic and enzyme studies in a patient with type II glycogenosis (Pompe\u2019s disease). 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