title: Fabry's disease cardiomyopathy: echocardiographic detection of endomyocardial glycosphingolipid compartmentalization.
abstract: OBJECTIVE
  We sought to identify echocardiographic hallmarks of Fabry's disease cardiomyopathy (FC).
  
  
  BACKGROUND
  The recognition of FC from other forms of left ventricular hypertrophy (LVH) by noninvasive imaging techniques is not yet available, and diagnosis, mostly in the absence of systemic manifestations, still relies on genetic and invasive studies.
  
  
  METHODS
  Forty consecutive patients (mean age 39 +/- 15 years, 22 men and 18 women) with an established diagnosis of Fabry's disease were submitted to echocardiographic evaluation. Control population consisted of 40 consecutive patients with hypertrophic cardiomyopathy (HCM), 40 hypertensive patients with echocardiographic evidence of LVH, and 40 age- and gender-matched healthy subjects with no LVH. All HCM patients and FC with LVH and/or cardiac symptoms underwent cardiac catheterization with left ventricular endomyocardial biopsy.
  
  
  RESULTS
  Echocardiography showed in 83% of FC patients (95% of FC patients with LVH) a binary appearance of endocardial border absent in all HCM, hypertensive, and healthy subjects. The sensitivity and specificity of this echocardiographic feature in detecting Fabry patients in study population were 94% and 100%, respectively. Comparison of echocardiographic with histologic and ultrastructural findings showed the binary appearance to reflect an endomyocardial glycosphingolipids compartmentalization, consisting of thickened glycolipid-rich endocardium, free glycosphingolipid subendocardial storage, and an inner severely affected myocardial layer with a clear subendocardial-midwall layer gradient of disease severity.
  
  
  CONCLUSIONS
  Echocardiographic binary appearance of left ventricular endocardial border, reflecting endomyocardial glycosphingolipids compartmentalization, represents a sensitive and specific diagnostic hallmark of Fabry's disease cardiomyopathy.
authors.affiliation: Ospedale Multimedica, Milan, Italy.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Pieroni
authors.forename: Cristina
authors.initials: C
authors.lastname: Chimenti
authors.forename: Francesco
authors.initials: F
authors.lastname: De Cobelli
authors.forename: Emanuela
authors.initials: E
authors.lastname: Morgante
authors.forename: Alessandro
authors.initials: A
authors.lastname: Del Maschio
authors.forename: Carlo
authors.initials: C
authors.lastname: Gaudio
authors.forename: Matteo Antonio
authors.initials: MA
authors.lastname: Russo
authors.forename: Andrea
authors.initials: A
authors.lastname: Frustaci
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D009202:Cardiomyopathies / Q000000981:diagnostic imaging* / Q000209:etiology / Q000378:metabolism*; D002312:Cardiomyopathy, Hypertrophic / Q000000981:diagnostic imaging / Q000378:metabolism; D003937:Diagnosis, Differential; D004452:Echocardiography; D004699:Endocardium / Q000000981:diagnostic imaging / Q000378:metabolism*; D000795:Fabry Disease / Q000150:complications*; D005260:Female; D006028:Glycosphingolipids / Q000378:metabolism*; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000000981:diagnostic imaging / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D009206:Myocardium / Q000378:metabolism*; D012680:Sensitivity and Specificity
chemical_list: D006028:Glycosphingolipids