PMID- 22498418
OWN - NLM
STAT- MEDLINE
DCOM- 20140411
LR  - 20211021
IS  - 1874-1754 (Electronic)
IS  - 0167-5273 (Print)
IS  - 0167-5273 (Linking)
VI  - 167
IP  - 4
DP  - 2013 Aug 20
TI  - Alstrom syndrome: cardiac magnetic resonance findings.
PG  - 1257-63
LID - S0167-5273(12)00367-1 [pii]
LID - 10.1016/j.ijcard.2012.03.160 [doi]
AB  - BACKGROUND: Alstrom 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.
CI  - Copyright (c) 2012 Elsevier Ireland Ltd. All rights reserved.
FAU - Corbetti, Francesco
AU  - Corbetti F
AD  - Radiology Department, Azienda Ospedaliera Padova, Italy. corbf@libero.it
FAU - Razzolini, Renato
AU  - Razzolini R
FAU - Bettini, Vera
AU  - Bettini V
FAU - Marshall, Jan D
AU  - Marshall JD
FAU - Naggert, Jurgen
AU  - Naggert J
FAU - Tona, Francesco
AU  - Tona F
FAU - Milan, Gabriella
AU  - Milan G
FAU - Maffei, Pietro
AU  - Maffei P
LA  - eng
GR  - R01 HD036878/HD/NICHD NIH HHS/United States
GR  - R01 HD036878-13/HD/NICHD NIH HHS/United States
GR  - HD036878/HD/NICHD NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
DEP - 20120410
PL  - Netherlands
TA  - Int J Cardiol
JT  - International journal of cardiology
JID - 8200291
RN  - 0 (ALMS1 protein, human)
RN  - 0 (Cell Cycle Proteins)
RN  - 0 (Proteins)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Alstrom Syndrome/*diagnosis/*genetics/physiopathology
MH  - Cell Cycle Proteins
MH  - Child
MH  - *Disease Progression
MH  - Female
MH  - Humans
MH  - *Magnetic Resonance Imaging, Cine/methods
MH  - Male
MH  - Proteins/*genetics
MH  - Young Adult
PMC - PMC3422598
MID - NIHMS369796
OTO - NOTNLM
OT  - ALMS1
OT  - Alstrom Syndrome
OT  - Cardiac Magnetic Resonance
OT  - Dilated cardiomyopathy
OT  - Fibrosis
EDAT- 2012/04/14 06:00
MHDA- 2014/04/12 06:00
PMCR- 2014/08/20
CRDT- 2012/04/14 06:00
PHST- 2011/09/26 00:00 [received]
PHST- 2012/03/08 00:00 [revised]
PHST- 2012/03/18 00:00 [accepted]
PHST- 2012/04/14 06:00 [entrez]
PHST- 2012/04/14 06:00 [pubmed]
PHST- 2014/04/12 06:00 [medline]
PHST- 2014/08/20 00:00 [pmc-release]
AID - S0167-5273(12)00367-1 [pii]
AID - 10.1016/j.ijcard.2012.03.160 [doi]
PST - ppublish
SO  - Int J Cardiol. 2013 Aug 20;167(4):1257-63. doi: 10.1016/j.ijcard.2012.03.160. 
      Epub 2012 Apr 10.