Echocardiographic manifestations of Glycogen Storage Disease III: Increase in wall thickness and left ventricular mass over time

Genetics in Medicine

Volumn 12, Issue 7, 2010, Pages 413-423

  Vertilus, Shawyntee M ^a   Austin, Stephanie L ^a   Foster, Kimberly S ^a   Boyette, Keri E ^a   Bali, Deeksha S ^a   Li, Jennifer S ^a   Kishnani, Priya S ^a   Wechsler, Stephanie Burns ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Glycogen Storage Disease Type III; left ventricular hypertrophy; left ventricular mass; ventricular function

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; ECHOCARDIOGRAPHY; FEMALE; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 3; HEART EJECTION FRACTION; HEART LEFT VENTRICLE MASS; HEART VENTRICLE HYPERTROPHY; HUMAN; INFANT; MALE; MUTATIONAL ANALYSIS; CROSS-SECTIONAL STUDY; ECHOGRAPHY; GENETICS; HEART LEFT VENTRICLE FUNCTION; HEART MUSCLE; HEART VENTRICLE; LONGITUDINAL STUDY; MIDDLE AGED; MUTATION; PATHOLOGY; PRESCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CROSS-SECTIONAL STUDIES; ECHOCARDIOGRAPHY; FEMALE; GLYCOGEN DEBRANCHING ENZYME SYSTEM; GLYCOGEN STORAGE DISEASE TYPE III; HEART VENTRICLES; HUMANS; INFANT; LONGITUDINAL STUDIES; MALE; MIDDLE AGED; MUTATION; MYOCARDIUM; VENTRICULAR DYSFUNCTION, LEFT; YOUNG ADULT;

AMYLO-1,6-GLUCOSIDASE; GLYCOGEN DEBRANCHING ENZYME;

EID: 77955172372     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3181e0e979     Document Type: Article

References (31)

1. Kishnani PS, Koeberl D, Chen YT. Chapter 71: Glycogen Storage Diseases. In: Valle DBA, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, ed. The Online Metabolic and Molecular Bases of Inherited Diseases. New York, NY: McGraw Hill Professional, 2009.
2. Yang-Feng TL, Zheng K, Yu J, Yang BZ, Chen TY, Kao FT. Assignment of the human glycogen debrancher gene to chromosome 1p21. Genomics 1992;13:931-934.
3. Bao Y, Dawson TL Jr, Chen YT. Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region. Genomics 1996;38:155-165.
4. Bao Y, Yang B-Z, Dawson TL Jr, Chen YT. Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA: identification of multiple tissue-specific isoforms. Gene 1997;197:389-398.
5. Pearson CM. Glycogen metabolism and storage diseases of types III, IV and V. Am J Clin Pathol 1968;50:29-43.
6. Miller CG, Alleyne GA, Brooks SEH. Gross cardiac involvement in Glycogen Storage Disease type III. Br Heart J 1972;34:862-864.
7. Olson LJ, Reeder GS, Noller KL, Edwards WD, Howell RR, Michels VV. Cardiac involvement in Glycogen Storage Disease III: morphologic and biochemical characterization with endomyocardial biopsy. Am J Cardiol 1984;53:980-981.
8. Tada H, Kurita T, Ohe T, et al. Glycogen storage disease type III associated with ventricular tachycardia. Am Heart J 1995;130:911-912.
9. Lee PJ, Deanfield JE, Burch M, Baig K, McKenna WJ, Leonard JV. Comparison of the functional significance of left ventricular hypertrophy in hypertrophic cardiomyopathy and glycogenosis type III. Am J Cardiol 1997;79:834-838.
10. Cochrane AB, Fedson SE, Cronin II DC. Nesiritide as bridge to multi-organ transplantation: a case report. Transplant Proc 2007;39:308-310.
11. Lang RM, Bierig M, Devereux RB, et al; Chamber Quantification Writing Group; American Society of Echocardiography's Guidelines and Standards Committee; European Association of Echocardiography. Recommendations for chamber quantification: a report from the American Society of Echocardiography's Guidelines and Standards Committee and the Chamber Quantification Writing Group, developed in conjunction with the European Association of Echocardiography, a branch of the European Society of Cardiology. J Am Soc Echocardiogr 2005;18:1440-1463.
12. Levine JC, Kishnani PS, Chen YT, Herlong JR, Li JS. Cardiac remodeling after enzyme replacement therapy with acid a-glucosidase for infants wtih Pompe disease. Pediatr Cardiol 2007;29:1033-1042.
13. Cuspidi C, Sampieri L, Pelizzoli S, et al. Obstructive hypertrophic cardiomyopathy in type III glycogen-storage disease. Acta Cardiol 1997;52:117-123.
14. Kobayashi A, Nishinomiya F, Fukamachi Y, et al. A case of Glycogen Storage Disease Type III (glycogen debranching enzyme deficiency) with liver cirrhosis and hypertrophic cardiomyopathy. Tohoku J Exp Med 1995; 176:181-185.
15. Shen J, BaoY, Liu HM, Lee P, Leonard JV, Chen YT. Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. J Clin Invest 1996;98:352-357.
16. Pettersen MD, Du W, Skeens ME, Humes RA. Regression equations for calculation of Z scores of cardiac structures in a large cohort of healthy infants, children, and adolescents: an echocardiographic study. J Am Soc Echocardiogr 2008;21:922-934.
17. Demo E, Frush D, Gottfried M, et al. Glycogen storage disease type III-hepatocellular carcinoma a long-term complication? J Hepatol 2007;46: 492-498.
18. Carvalho JS, Matthew EE, Leonard JV, Deanfield J. Cardiomyopathy of glycogen storage disease type III. Heart Vessels 1993;8:155-159.
19. Labrune P, Huguet P, Odievre M. Cardiomyopathy in Glycogen-Storage Disease Type III: clinical and echographic study of 18 patients. Pediatr Cardiol 1991;12:161-163.
20. Lee P, Burch M, Leonard JV. Plasma creatine kinase and cardiomyopathy in glycogen storage disease type III. J Inherit Metab Dis 1995;18:751-752.
21. Coleman RA, Winter HS, Wolf B, Gilchrist JM, Chen YT. Glycogen Storage Disease Type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy. Ann Intern Med 1992;116:896-900.
22. Moses SW, Wanderman KL, Myroz A, Frydman M. Cardiac involvement in glycogen storage disease type III. Eur J Pediatr 1989;148:764-766.
23. Moon JCC, Mundy HR, Lee PJ, Mohiaddin RH, Pennell DJ. Myocardial fibrosis in Glycogen Storage Disease Type III. Circulation 2003;107:e47.
24. Arad M, Maron BJ, Gorham JM, et al. Glycogen Storage Diseases presenting as hypertrophic cardiomyopathy. N Engl J Med 2005;352:362-372.
25. Kishnani PS, Wechsler SB, Li JS. Enzyme-deficiency metabolic cardiomyopathies and the role of enzyme replacement therapy. Prog Pediatr Cardiol 2007;23:39-48.
26. Ogimoto A, Okubo M, Okayama H, et al. A Japanese patient with cardiomyopathy caused by a novel mutation R285X in the AGL gene. Circ J 2007;71:1653-1656.
27. Akazawa H, Kuroda T, Kim S, Mito H, Kojo T, Shimada K. Specific heart muscle disease associated with glycogen storage disease type III: clinical similarity to the dilated phase of hypertrophic cardiomyopathy. Eur Heart J 1997;18:532-533.
28. Shen J, Bao Y, Chen YT. A nonsense mutation due to a single base insertion in the 3'-coding region of the glycogen debranching enzyme gene associated with a severe phenotype in a patient with Glycogen Storage Disease Types IIIa. Hum Mutat 1997;9:37-40.
29. Lee PJ, Leonard JV. The hepatic glycogen storage diseases-problems beyond childhood. J Inherit Metab Dis 1995;18:462-472.
30. Talente GM, Coleman RA, Alter C, et al. Glycogen Storage Disease in adults. Ann Intern Med 1994;120:218-226.
31. Smit GP, Fernandes J, Leonard JV, et al. The long-term outcome of patients with glycogen storage diseases. J Inherit Metab Dis 1990;13:411-418.