Document Detail


Alström syndrome: cardiac magnetic resonance findings.
MedLine Citation:
PMID:  22498418     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: Alström Syndrome (ALMS) is an extremely rare multiorgan disease caused by mutations in ALMS1. Dilated cardiomyopathy (DCM) is a common finding but only one series has been investigated by Cardiac Magnetic Resonance (CMR).
METHODS: Eight genetically proven ALMS patients (ages 11-41) underwent CMR performed by standard cine steady state, T1, T2 and late gadolinium enhancement (LGE) sequences. Ejection fraction (EF), Diastolic Volume (EDV) and Systolic Volume normalized for body surface area (ESV), and mass indices were determined, as well as EDV/Mass ratio, an index expressing the adequacy of cardiac mass to heart volume. Regional fibrosis was assessed by LGE; diffuse fibrosis was measured by a TI scout sequence acquired at 5, 10 and 15 min after gadolinium by comparing inversion time values (TI) at null time in ALMS and control group.
RESULTS: In one patient severe DCM was present with diffuse LGE. There were seven cases without clinical DCM. In these patients, EF was at lower normal limits or slightly reduced and ESV index increased; six patients had decreased mass index and EDV/Mass ratio. Mild regional non ischemic fibrosis was detected by LGE in three cases; diffuse fibrosis was observed in all cases, as demonstrated by shorter TI values in ALMS in comparison with controls (5 min: 152 ± 12 vs 186 ± 16, p 0.0002; 10 min: 175 ± 8 vs 204 ± 18, p 0.0012; 15 min: 193 ± 9 vs 224 ± 16, p 0.0002).
CONCLUSIONS: Cardiac involvement in ALMS is characterized by progressive DCM, associated with systolic dysfunction, myocardial fibrosis and reduced myocardial mass.
Authors:
Francesco Corbetti; Renato Razzolini; Vera Bettini; Jan D Marshall; Jürgen Naggert; Francesco Tona; Gabriella Milan; Pietro Maffei
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2012-04-10
Journal Detail:
Title:  International journal of cardiology     Volume:  167     ISSN:  1874-1754     ISO Abbreviation:  Int. J. Cardiol.     Publication Date:  2013 Aug 
Date Detail:
Created Date:  2013-08-12     Completed Date:  2014-04-11     Revised Date:  2014-08-21    
Medline Journal Info:
Nlm Unique ID:  8200291     Medline TA:  Int J Cardiol     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  1257-63     Citation Subset:  IM    
Copyright Information:
Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Alstrom Syndrome / diagnosis*,  genetics*,  physiopathology
Child
Disease Progression*
Female
Humans
Magnetic Resonance Imaging, Cine* / methods
Male
Proteins / genetics*
Young Adult
Grant Support
ID/Acronym/Agency:
HD036878/HD/NICHD NIH HHS; R01 HD036878-13/HD/NICHD NIH HHS
Chemical
Reg. No./Substance:
0/ALMS1 protein, human; 0/Proteins
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