The binary endocardial appearance is a poor discriminator of Anderson-Fabry disease from familial hypertrophic cardiomyopathy.
OBJECTIVE
We compared the frequency of a binary endocardial appearance in patients with hypertrophic cardiomyopathy (HCM) and Anderson-Fabry disease (AFD).


BACKGROUND
A recent study suggested that a binary endocardial appearance is a highly sensitive and specific discriminator of AFD from other causes of hypertrophic cardiomyopathy (HCM).


METHODS
Fourteen patients with AFD (55.4 +/- 9.9 years, 9 men) and 14 patients with HCM (57.2 +/- 10.9 years, 9 men) were randomly selected from a dedicated patient database. Two-dimensional echo images were blindly reviewed by 2 experienced echocardiographers.


RESULTS
Maximum left ventricular (LV) wall thickness, LV end-systolic dimension, fractional shortening, and left atrial size were similar in the 2 patient groups. The LV end-diastolic dimension was smaller in patients with HCM (p = 0.04). A binary sign was present in 8 of 28 patients (29%). The sensitivity and specificity of the binary sign as a discriminator of AFD from HCM were 35% and 79%, respectively. A binary sign was present in only 1 patient with LV wall thickness <15 mm.


CONCLUSIONS
The binary endocardial appearance lacks sufficient sensitivity and specificity to be used as an echocardiographic screening tool.
Kounas
Stavros
S
Heart Hospital, University College London, London, United Kingdom.
Demetrescu
Camelia
C
Pantazis
Antonios A
AA
Keren
Andre
A
Lee
Philip J
PJ
Hughes
Derralynn
D
Mehta
Atul
A
Elliott
Perry Mark
PM
D000328:Adult; D000368:Aged; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000000981:diagnostic imaging*; D003937:Diagnosis, Differential; D004311:Double-Blind Method; D004452:Echocardiography; D004699:Endocardium / Q000000981:diagnostic imaging*; D000795:Fabry Disease / Q000000981:diagnostic imaging*; D005260:Female; D006352:Heart Ventricles / Q000000981:diagnostic imaging; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000000981:diagnostic imaging; D008297:Male; D008875:Middle Aged; D015588:Observer Variation; D012680:Sensitivity and Specificity