title: Identification and assessment of Anderson-Fabry disease by cardiovascular magnetic resonance noncontrast myocardial T1 mapping.
abstract: BACKGROUND
  Anderson-Fabry disease (AFD) is a rare but underdiagnosed intracellular lipid disorder that can cause left ventricular hypertrophy (LVH). Lipid is known to shorten the magnetic resonance imaging parameter T1. We hypothesized that noncontrast T1 mapping by cardiovascular magnetic resonance would provide a novel and useful measure in this disease with potential to detect early cardiac involvement and distinguish AFD LVH from other causes.
  
  
  RESULTS
  Two hundred twenty-seven subjects were studied: patients with AFD (n=44; 55% with LVH), healthy volunteers (n=67; 0% with LVH), patients with hypertension (n=41; 24% with LVH), patients with hypertrophic cardiomyopathy (n=34; 100% with LVH), those with severe aortic stenosis (n=21; 81% with LVH), and patients with definite amyloid light-chain (AL) cardiac amyloidosis (n=20; 100% with LVH). T1 mapping was performed using the shortened modified Look-Locker inversion sequence on a 1.5-T magnet before gadolinium administration with primary results derived from the basal and midseptum. Compared with health volunteers, septal T1 was lower in AFD and higher in other diseases (AFD versus healthy volunteers versus other patients, 882±47, 968±32, 1018±74 milliseconds; P<0.0001). In patients with LVH (n=105), T1 discriminated completely between AFD and other diseases with no overlap. In AFD, T1 correlated inversely with wall thickness (r=-0.51; P=0.0004) and was abnormal in 40% of subjects who did not have LVH. Segmentally, AFD showed pseudonormalization or elevation of T1 in the left ventricular inferolateral wall, correlating with the presence or absence of late gadolinium enhancement (1001±82 versus 891±38 milliseconds; P<0.0001).
  
  
  CONCLUSIONS
  Noncontrast T1 mapping shows potential as a unique and powerful measurement in the imaging assessment of LVH and AFD.
authors.affiliation: The Heart Hospital, London, UK.
authors.forename: Daniel M
authors.initials: DM
authors.lastname: Sado
authors.forename: Steven K
authors.initials: SK
authors.lastname: White
authors.forename: Stefan K
authors.initials: SK
authors.lastname: Piechnik
authors.forename: Sanjay M
authors.initials: SM
authors.lastname: Banypersad
authors.forename: Thomas
authors.initials: T
authors.lastname: Treibel
authors.forename: Gabriella
authors.initials: G
authors.lastname: Captur
authors.forename: Marianna
authors.initials: M
authors.lastname: Fontana
authors.forename: Viviana
authors.initials: V
authors.lastname: Maestrini
authors.forename: Andrew S
authors.initials: AS
authors.lastname: Flett
authors.forename: Matthew D
authors.initials: MD
authors.lastname: Robson
authors.forename: Robin H
authors.initials: RH
authors.lastname: Lachmann
authors.forename: Elaine
authors.initials: E
authors.lastname: Murphy
authors.forename: Atul
authors.initials: A
authors.lastname: Mehta
authors.forename: Derralynn
authors.initials: D
authors.lastname: Hughes
authors.forename: Stefan
authors.initials: S
authors.lastname: Neubauer
authors.forename: Perry M
authors.initials: PM
authors.lastname: Elliott
authors.forename: James C
authors.initials: JC
authors.lastname: Moon
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000704:Analysis of Variance; D016022:Case-Control Studies; D003287:Contrast Media; D003937:Diagnosis, Differential; D000795:Fabry Disease / Q000150:complications*; D005260:Female; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000175:diagnosis* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008536:Meglumine; D008875:Middle Aged; D009206:Myocardium / Q000473:pathology*; D009942:Organometallic Compounds; D011237:Predictive Value of Tests; D011446:Prospective Studies; D012307:Risk Factors; D055815:Young Adult
chemical_list: D003287:Contrast Media; D009942:Organometallic Compounds; D008536:Meglumine; C072417:gadoterate meglumine
keywords: MRI; T1 mapping; lipids