Cardiac Involvement in Glycogen Storage Disease Type IV: Two Cases and the Two Ends of a Spectrum
Glycogen storage disease type IV (GSD IV) is an autosomal recessive disorder due to the deficiency of α 1,4-glucan branching enzyme, resulting in an accumulation of amylopectin-like polysaccharide in various systems. We describe two cases, a 23-year-old girl with dilated cardiomyopathy who presented...
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Wiley
2012-01-01
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| Series: | Case Reports in Medicine |
| Online Access: | http://dx.doi.org/10.1155/2012/764286 |
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| author | Tolga Aksu Ayse Colak Omac Tufekcioglu |
| author_facet | Tolga Aksu Ayse Colak Omac Tufekcioglu |
| author_sort | Tolga Aksu |
| collection | DOAJ |
| description | Glycogen storage disease type IV (GSD IV) is an autosomal recessive disorder due to the deficiency of α 1,4-glucan branching enzyme, resulting in an accumulation of amylopectin-like polysaccharide in various systems. We describe two cases, a 23-year-old girl with dilated cardiomyopathy who presented with progressive dyspnea and fatigue and a 28-year-old girl with hypertrophic cardiomyopathy who was asymptomatic, secondary to the accumulation of amylopectin-like fibrillar glycogen, in heart. In both patients, the diagnosis was confirmed by enzyme assessment. Our patients showed that GSD IV is not only liver or skeletal muscle disease, but also it can be presented in different form of the spectrum of cardiomyopathy from dilated to hypertrophic and from asymptomatic to decompensated heart failure. Also, to our knowledge, this is the first hypertrophic cardiomyopathy case due to GSD IV in the literature. |
| format | Article |
| id | doaj-art-5263aa73e05347f0b89e797470bb9fc6 |
| institution | Kabale University |
| issn | 1687-9627 1687-9635 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Medicine |
| spelling | doaj-art-5263aa73e05347f0b89e797470bb9fc62025-08-20T03:36:30ZengWileyCase Reports in Medicine1687-96271687-96352012-01-01201210.1155/2012/764286764286Cardiac Involvement in Glycogen Storage Disease Type IV: Two Cases and the Two Ends of a SpectrumTolga Aksu0Ayse Colak1Omac Tufekcioglu2Department of Cardiology, Kocaeli Derince Education and Research Hospital, 41900 Kocaeli, TurkeyDepartment of Cardiology, Ankara Yuksek Ihtisas Education and Research Hospital, Sihhiye, 06410 Ankara, TurkeyDepartment of Cardiology, Ankara Yuksek Ihtisas Education and Research Hospital, Sihhiye, 06410 Ankara, TurkeyGlycogen storage disease type IV (GSD IV) is an autosomal recessive disorder due to the deficiency of α 1,4-glucan branching enzyme, resulting in an accumulation of amylopectin-like polysaccharide in various systems. We describe two cases, a 23-year-old girl with dilated cardiomyopathy who presented with progressive dyspnea and fatigue and a 28-year-old girl with hypertrophic cardiomyopathy who was asymptomatic, secondary to the accumulation of amylopectin-like fibrillar glycogen, in heart. In both patients, the diagnosis was confirmed by enzyme assessment. Our patients showed that GSD IV is not only liver or skeletal muscle disease, but also it can be presented in different form of the spectrum of cardiomyopathy from dilated to hypertrophic and from asymptomatic to decompensated heart failure. Also, to our knowledge, this is the first hypertrophic cardiomyopathy case due to GSD IV in the literature.http://dx.doi.org/10.1155/2012/764286 |
| spellingShingle | Tolga Aksu Ayse Colak Omac Tufekcioglu Cardiac Involvement in Glycogen Storage Disease Type IV: Two Cases and the Two Ends of a Spectrum Case Reports in Medicine |
| title | Cardiac Involvement in Glycogen Storage Disease Type IV: Two Cases and the Two Ends of a Spectrum |
| title_full | Cardiac Involvement in Glycogen Storage Disease Type IV: Two Cases and the Two Ends of a Spectrum |
| title_fullStr | Cardiac Involvement in Glycogen Storage Disease Type IV: Two Cases and the Two Ends of a Spectrum |
| title_full_unstemmed | Cardiac Involvement in Glycogen Storage Disease Type IV: Two Cases and the Two Ends of a Spectrum |
| title_short | Cardiac Involvement in Glycogen Storage Disease Type IV: Two Cases and the Two Ends of a Spectrum |
| title_sort | cardiac involvement in glycogen storage disease type iv two cases and the two ends of a spectrum |
| url | http://dx.doi.org/10.1155/2012/764286 |
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