The endocardial binary appearance ('binary sign') is an unreliable marker for echocardiographic detection of Fabry disease in patients with left ventricular hypertrophy

Abstract

The endocardial binary appearance is associated with the degree of septal hypertrophy but cannot adequately distinguish between patients with Fabry disease and patients with other causes of left ventricular hypertrophy.

Loss of base‐to‐apex circumferential strain gradient: A specific pattern of Fabry cardiomyopathy?

“…Heart involvement is mainly characterized by a high frequency of LVH, the key feature in Fabry cardiomyopathy, which is strongly associated with the occurrence of major cardiovascular events in Fabry patients . Two‐dimensional standard echocardiographic parameters (ie, LVH phenotype, mitral Doppler analysis, endocardial binary appearance) have failed to detect the characteristic anomalies of Fabry disease and to differentiate this rare cause of LVH from HCM or other more common causes . TDI was reported to be an interesting tool for the early detection of Fabry disease.…”

Uncertain diagnosis of Fabry disease: Consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance

“…From the remaining 52 articles, 9 entry or exit criteria were pre-selected (Table 1). A summary of all articles reviewed and the results of the Dutch validation cohort were presented to the panel (online supplementary data [39][40][41][42][43][44][45][46][47][72][73][74][75][76][77]). …”

Echocardiography in Fabry Disease

“…22 Other studies doubted the feasibility of binary appearance to screen for Fabry disease or the ability to distinguish between Fabry cardiomyopathy and other hypertrophic diseases. [23][24][25] In our cohort of 180 Fabry patients the binary sign is seen rarely and is not associated with any stage of disease (Niemann and Weidemann, 2013, unpublished data). Thus, we do not suggest this sign as a useful marker to screen for Fabry disease.…”