Fabry's disease cardiomyopathy: echocardiographic detection of endomyocardial glycosphingolipid compartmentalization.
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.
Pieroni
Maurizio
M
Ospedale Multimedica, Milan, Italy.
Chimenti
Cristina
C
De Cobelli
Francesco
F
Morgante
Emanuela
E
Del Maschio
Alessandro
A
Gaudio
Carlo
C
Russo
Matteo Antonio
MA
Frustaci
Andrea
A
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
D006028:Glycosphingolipids