title: Cardiovascular magnetic resonance demonstration of the spectrum of morphological phenotypes and patterns of myocardial scarring in Anderson-Fabry disease.
abstract: BACKGROUND
  Although it is known that Anderson-Fabry Disease (AFD) can mimic the morphologic manifestations of hypertrophic cardiomyopathy (HCM) on echocardiography, there is a lack of cardiovascular magnetic resonance (CMR) literature on this. There is limited information in the published literature on the distribution of myocardial fibrosis in patients with AFD, with scar reported principally in the basal inferolateral midwall.
  
  
  METHODS
  All patients with confirmed AFD undergoing CMR at our center were included. Left ventricular (LV) volumes, wall thicknesses and scar were analyzed offline. Patients were categorized into 4 groups: (1) no wall thickening; (2) concentric hypertrophy; (3) asymmetric septal hypertrophy (ASH); and (4) apical hypertrophy. Charts were reviewed for clinical information.
  
  
  RESULTS
  Thirty-nine patients were included (20 males [51%], median age 45.2 years [range 22.3-64.4]). Almost half (17/39) had concentric wall thickening. Almost half (17/39) had pathologic LV scar; three quarters of these (13/17) had typical inferolateral midwall scar. A quarter (9/39) had both concentric wall thickening and typical inferolateral scar. A subgroup with ASH and apical hypertrophy (n = 5) had greater maximum wall thickness, total LV scar, apical scar and mid-ventricular scar than those with concentric hypertrophy (n = 17, p < 0.05). Patients with elevated LVMI had more overall arrhythmia (p = 0.007) more ventricular arrhythmia (p = 0.007) and sustained ventricular tachycardia (p = 0.008).
  
  
  CONCLUSIONS
  Concentric thickening and inferolateral mid-myocardial scar are the most common manifestations of AFD, but the spectrum includes cases morphologically identical to apical and ASH subtypes of HCM and these have more apical and mid-ventricular LV scar. Significant LVH is associated with ventricular arrhythmia.
authors.affiliation: Department of Medical Imaging, St. Michael's Hospital, University of Toronto, 30, Bond Street, Toronto, ON, M5B 1W8, Canada. devad@smh.ca.
authors.forename: Djeven Parameshvara
authors.identifier: http://orcid.org/0000-0002-3347-008X
authors.initials: DP
authors.lastname: Deva
authors.affiliation: Department of Medical Imaging, Peter Munk Cardiac Centre, Toronto General Hospital, University of Toronto, 585 University Ave, Toronto, ON, M5G 2N2, Canada.
authors.forename: Kate
authors.initials: K
authors.lastname: Hanneman
authors.affiliation: Division of Cardiology, Peter Munk Cardiac Centre, Toronto General Hospital, University of Toronto, 585 University Ave, Toronto, ON, M5G 2N2, Canada.
authors.forename: Qin
authors.initials: Q
authors.lastname: Li
authors.affiliation: Department of Medical Imaging, Peter Munk Cardiac Centre, Toronto General Hospital, University of Toronto, 585 University Ave, Toronto, ON, M5G 2N2, Canada.|Department of Diagnostic Radiology, The University of Hong Kong, Queen Mary Hospital, 102, Pokfulam Road, Hong Kong.
authors.forename: Ming Yen
authors.initials: MY
authors.lastname: Ng
authors.affiliation: Fred A. Litwin Centre in Genetic Medicine, University Health Network & Mount Sinai Hospital, 60 Murray St., 3rd floor, Room 400, Toronto, M5T 3L9, ON, Canada.|The Hospital for Sick Children, 555, University Avenue, Toronto, ON, M5G 1X8, Canada.
authors.forename: Syed
authors.initials: S
authors.lastname: Wasim
authors.affiliation: Fred A. Litwin Centre in Genetic Medicine, University Health Network & Mount Sinai Hospital, 60 Murray St., 3rd floor, Room 400, Toronto, M5T 3L9, ON, Canada.
authors.forename: Chantal
authors.initials: C
authors.lastname: Morel
authors.affiliation: Division of Cardiology, Toronto Western Hospital, 399 Bathurst St, Toronto, ON, M5T 2S8, Canada.
authors.forename: Robert M
authors.initials: RM
authors.lastname: Iwanochko
authors.affiliation: Division of Cardiology, Peter Munk Cardiac Centre, Toronto General Hospital, University of Toronto, 585 University Ave, Toronto, ON, M5G 2N2, Canada.
authors.forename: Paaladinesh
authors.initials: P
authors.lastname: Thavendiranathan
authors.affiliation: Department of Medical Imaging, Peter Munk Cardiac Centre, Toronto General Hospital, University of Toronto, 585 University Ave, Toronto, ON, M5G 2N2, Canada.|Division of Cardiology, Peter Munk Cardiac Centre, Toronto General Hospital, University of Toronto, 585 University Ave, Toronto, ON, M5G 2N2, Canada.
authors.forename: Andrew Michael
authors.initials: AM
authors.lastname: Crean
mesh_terms: D000328:Adult; D001145:Arrhythmias, Cardiac / Q000209:etiology / Q000503:physiopathology; D006332:Cardiomegaly / Q000209:etiology* / Q000473:pathology* / Q000503:physiopathology; D002921:Cicatrix / Q000209:etiology* / Q000473:pathology* / Q000503:physiopathology; D003937:Diagnosis, Differential; D000795:Fabry Disease / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005355:Fibrosis; D006339:Heart Rate; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009206:Myocardium / Q000473:pathology*; D009864:Ontario; D010641:Phenotype; D011237:Predictive Value of Tests; D012189:Retrospective Studies; D016276:Ventricular Function; D055815:Young Adult
keywords: Anderson-Fabry disease; Cardiomyopathy; Cardiovascular magnetic resonance; Hypertrophy; Late gadolinium enhancement; Left ventricular morphology; Myocardial scar