Myocardial Fibrosis in Glycogen Storage Disease Type III
2003; Lippincott Williams & Wilkins; Volume: 107; Issue: 7 Linguagem: Inglês
10.1161/01.cir.0000050691.73932.cb
ISSN1524-4539
AutoresJames Moon, Helen Mundy, Philip Lee, Raad Mohiaddin, Dudley J. Pennell,
Tópico(s)Cardiomyopathy and Myosin Studies
ResumoHomeCirculationVol. 107, No. 7Myocardial Fibrosis in Glycogen Storage Disease Type III Free AccessReview ArticlePDF/EPUBAboutView PDFView EPUBSections ToolsAdd to favoritesDownload citationsTrack citationsPermissions ShareShare onFacebookTwitterLinked InMendeleyReddit Jump toFree AccessReview ArticlePDF/EPUBMyocardial Fibrosis in Glycogen Storage Disease Type III James C.C. Moon, Helen R. Mundy, Philip J. Lee, Raad H. Mohiaddin and Dudley J. Pennell James C.C. MoonJames C.C. Moon From the Centre for Advanced Magnetic Resonance in Cardiology (CAMRIC), Royal Brompton Hospital (J.C.C.M., R.H.M., D.J.P.), and Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery (H.R.M., P.J.L.), London, UK. , Helen R. MundyHelen R. Mundy From the Centre for Advanced Magnetic Resonance in Cardiology (CAMRIC), Royal Brompton Hospital (J.C.C.M., R.H.M., D.J.P.), and Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery (H.R.M., P.J.L.), London, UK. , Philip J. LeePhilip J. Lee From the Centre for Advanced Magnetic Resonance in Cardiology (CAMRIC), Royal Brompton Hospital (J.C.C.M., R.H.M., D.J.P.), and Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery (H.R.M., P.J.L.), London, UK. , Raad H. MohiaddinRaad H. Mohiaddin From the Centre for Advanced Magnetic Resonance in Cardiology (CAMRIC), Royal Brompton Hospital (J.C.C.M., R.H.M., D.J.P.), and Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery (H.R.M., P.J.L.), London, UK. and Dudley J. PennellDudley J. Pennell From the Centre for Advanced Magnetic Resonance in Cardiology (CAMRIC), Royal Brompton Hospital (J.C.C.M., R.H.M., D.J.P.), and Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery (H.R.M., P.J.L.), London, UK. Originally published25 Feb 2003https://doi.org/10.1161/01.CIR.0000050691.73932.CBCirculation. 2003;107:e47A 32-year-old man was referred with exertional chest pain. He had been diagnosed with glycogen storage disease type IIIa (GSDIIIa) by liver biopsy in childhood.Cine cardiovascular magnetic resonance (CMR) demonstrated profound symmetrical hypertrophy (483 g) with impaired systolic function. Gadolinium-diethylene triamine penta-acetic acid (DTPA) rest perfusion demonstrated multifocal first pass mid-myocardial defects and late imaging demonstrated hyperenhancement (Figure) in these and other areas. Download figureDownload PowerPointFISP cine imaging, short axis. a shows diastole and b, systole. c, Rest perfusion; d, Late gadolinium. Regions of hypoperfusion (arrows) are demonstrated on first pass, which show late hyperenhancement (arrows).Gadolinium-DTPA is an extracellular tracer, and relative myocardial concentrations are higher in regions of interstitial expansion in the washout phase. Such regions demonstrate hyperenhancement on late imaging (5 to 30 minutes). Initially used to demonstrate fibrosis in myocardial infarction, myocardial hyperenhancement has potential to demonstrate focal interstitial expansion in other conditions.In GSDIIIa, the functional absence of a glycogen debranching enzyme results in intracellular glycogen accumulation; however, cardiac hypertrophy may also result from interstitial expansion. In the liver, fibrosis is universal, although rarely progressive. In this patient, hyperenhancement comprising 30% of total myocardial mass was present with associated rest perfusion defects, strongly suggesting fibrosis. Imaging the interstitium using gadolinium-DTPA in cardiomyopathy is a new area, and the clinical and prognostic implications are promising.The editor of Images in Cardiovascular Medicine is Hugh A. McAllister, Jr, MD, Chief, Department of Pathology, St Luke's Episcopal Hospital and Texas Heart Institute, and Clinical Professor of Pathology, University of Texas Medical School and Baylor College of Medicine.Circulation encourages readers to submit cardiovascular images to the Circulation Editorial Office, St Luke's Episcopal Hospital/Texas Heart Institute, 6720 Bertner Ave, MC1-267, Houston, TX 77030.FootnotesCorrespondence to James C.C. Moon, CMR Unit, Royal Brompton Hospital, Sydney St, London, SW 3 6NP UK. E-mail [email protected] eLetters(0)eLetters should relate to an article recently published in the journal and are not a forum for providing unpublished data. Comments are reviewed for appropriate use of tone and language. Comments are not peer-reviewed. Acceptable comments are posted to the journal website only. Comments are not published in an issue and are not indexed in PubMed. Comments should be no longer than 500 words and will only be posted online. References are limited to 10. Authors of the article cited in the comment will be invited to reply, as appropriate.Comments and feedback on AHA/ASA Scientific Statements and Guidelines should be directed to the AHA/ASA Manuscript Oversight Committee via its Correspondence page.Sign In to Submit a Response to This Article Previous Back to top Next FiguresReferencesRelatedDetailsCited By Berling É, Laforêt P, Wahbi K, Labrune P, Petit F, Ronzitti G and O'Brien A (2021) Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects , Journal of Inherited Metabolic Disease, 10.1002/jimd.12355, 44:3, (521-533), Online publication date: 1-May-2021. 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McCrohon J, Moon J, Prasad S, McKenna W, Lorenz C, Coats A and Pennell D (2003) Differentiation of Heart Failure Related to Dilated Cardiomyopathy and Coronary Artery Disease Using Gadolinium-Enhanced Cardiovascular Magnetic Resonance, Circulation, 108:1, (54-59), Online publication date: 8-Jul-2003. February 25, 2003Vol 107, Issue 7 Advertisement Article InformationMetrics https://doi.org/10.1161/01.CIR.0000050691.73932.CBPMID: 12600925 Originally publishedFebruary 25, 2003 PDF download Advertisement
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