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Article: Lysosomal glycogen storage disease with normal acid maltase: An unusual form of hypertrophic cardiomyopathy with rapidly progressive heart failure

TitleLysosomal glycogen storage disease with normal acid maltase: An unusual form of hypertrophic cardiomyopathy with rapidly progressive heart failure
Authors
KeywordsHypertrophic Cardiomyopathy
Lysosomal Glycogen Storage Disease
Issue Date1996
PublisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.amjmedsci.com/
Citation
American Journal Of The Medical Sciences, 1996, v. 312 n. 4, p. 182-186 How to Cite?
AbstractA 14-year-old boy with mild mental retardation, myopathy, and nonobstructive hypertrophic cardiomyopathy (HCM) with clinical and histopathologic features consistent with lysosomal glycogen storage disease with normal acid maltase is described. The case illustrates the aggressive nature of the cardiomyopathy of this syndrome. This condition is associated with malignant ventricular arrhythmias, relentlessly progressive ventricular dilatation, dysfunction, and sudden death. It is important to recognize this unusual and malignant form of HCM to precipitate low early diagnosis by muscle biopsy. Patients with this condition would be excellent candidates for life-saving heart transplant as the myopathy and mental retardation are mild and nonprogressive. The underlying biochemical defect and mode of inheritance of this syndrome are unclear. However, a significant proportion are genetically related and thus, relatives may benefit from family screening.
Persistent Identifierhttp://hdl.handle.net/10722/162126
ISSN
2015 Impact Factor: 1.575
2015 SCImago Journal Rankings: 0.653
References

 

DC FieldValueLanguage
dc.contributor.authorTse, HFen_US
dc.contributor.authorShek, TWKen_US
dc.contributor.authorTai, YTen_US
dc.contributor.authorLau, YKen_US
dc.contributor.authorMa, Len_US
dc.date.accessioned2012-09-05T05:17:30Z-
dc.date.available2012-09-05T05:17:30Z-
dc.date.issued1996en_US
dc.identifier.citationAmerican Journal Of The Medical Sciences, 1996, v. 312 n. 4, p. 182-186en_US
dc.identifier.issn0002-9629en_US
dc.identifier.urihttp://hdl.handle.net/10722/162126-
dc.description.abstractA 14-year-old boy with mild mental retardation, myopathy, and nonobstructive hypertrophic cardiomyopathy (HCM) with clinical and histopathologic features consistent with lysosomal glycogen storage disease with normal acid maltase is described. The case illustrates the aggressive nature of the cardiomyopathy of this syndrome. This condition is associated with malignant ventricular arrhythmias, relentlessly progressive ventricular dilatation, dysfunction, and sudden death. It is important to recognize this unusual and malignant form of HCM to precipitate low early diagnosis by muscle biopsy. Patients with this condition would be excellent candidates for life-saving heart transplant as the myopathy and mental retardation are mild and nonprogressive. The underlying biochemical defect and mode of inheritance of this syndrome are unclear. However, a significant proportion are genetically related and thus, relatives may benefit from family screening.en_US
dc.languageengen_US
dc.publisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.amjmedsci.com/en_US
dc.relation.ispartofAmerican Journal of the Medical Sciencesen_US
dc.subjectHypertrophic Cardiomyopathyen_US
dc.subjectLysosomal Glycogen Storage Diseaseen_US
dc.titleLysosomal glycogen storage disease with normal acid maltase: An unusual form of hypertrophic cardiomyopathy with rapidly progressive heart failureen_US
dc.typeArticleen_US
dc.identifier.emailTse, HF:hftse@hkucc.hku.hken_US
dc.identifier.authorityTse, HF=rp00428en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.scopuseid_2-s2.0-0029817411en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0029817411&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume312en_US
dc.identifier.issue4en_US
dc.identifier.spage182en_US
dc.identifier.epage186en_US
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridTse, HF=7006070805en_US
dc.identifier.scopusauthoridShek, TWK=7005479863en_US
dc.identifier.scopusauthoridTai, YT=7201916438en_US
dc.identifier.scopusauthoridLau, YK=7201403303en_US
dc.identifier.scopusauthoridMa, L=7403574642en_US

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