title: Alström syndrome: cardiac magnetic resonance findings.
abstract: 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.affiliation: Radiology Department, Azienda Ospedaliera Padova, Italy. corbf@libero.it
authors.forename: Francesco
authors.initials: F
authors.lastname: Corbetti
authors.forename: Renato
authors.initials: R
authors.lastname: Razzolini
authors.forename: Vera
authors.initials: V
authors.lastname: Bettini
authors.forename: Jan D
authors.initials: JD
authors.lastname: Marshall
authors.forename: Jürgen
authors.initials: J
authors.lastname: Naggert
authors.forename: Francesco
authors.initials: F
authors.lastname: Tona
authors.forename: Gabriella
authors.initials: G
authors.lastname: Milan
authors.forename: Pietro
authors.initials: P
authors.lastname: Maffei
mesh_terms: D000293:Adolescent; D000328:Adult; D056769:Alstrom Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D018797:Cell Cycle Proteins; D002648:Child; D018450:Disease Progression; D005260:Female; D006801:Humans; D019028:Magnetic Resonance Imaging, Cine / Q000379:methods; D008297:Male; D011506:Proteins / Q000235:genetics*; D055815:Young Adult
chemical_list: C490729:ALMS1 protein, human; D018797:Cell Cycle Proteins; D011506:Proteins