Electrocardiographic signs of hypertrophy in Fabry disease‐associated hypertrophic cardiomyopathy

Abstract

Aims: Fabry disease results from deficient activity of the lysosomal enzyme α‐galactosidase A. Progressive accumulation of the major substrates leads, in both men and women, to progressive hypertrophic cardiomyopathy. We aimed to evaluate the utility of different electrocardiographic (ECG) parameters for assessing the degree and severity of hypertrophic cardiomyopathy in patients with Fabry disease. Methods: A total of 166 ECGs of 94 hemi‐ and heterozygous patients with Fabry disease were analysed and compared with echocardiographic‐estimated left ventricular mass (LVM). Results: There was a significant (p > 0.0001) correlation between QRS duration (R2= 0.59), 12‐lead amplitude/duration product (R2= 0.61), Sokolow‐Lyon voltage/duration product (R2= 0.52) and LVM. Analysis of receiver operating characteristics revealed that the 12‐lead amplitude/duration product had the highest sensitivity‐specificity relationship (p > 0.01 compared with the Cornell index). Conclusion: In general, ECG signs of left ventricular hypertrophy correlated well with LVM as revealed by echocardiography. Of the parameters studied, the 12‐lead amplitude/duration product was the most successful at describing the severity of cardiac involvement in Fabry disease. These data suggest that ECG parameters have potential for use as a simple and cost‐effective means of screening for hypertrophic cardiomyopathy in patients with Fabry disease.

Electrical Changes in Resting, Exercise, and Holter Electrocardiography in Fabry Cardiomyopathy

“…Results of the resting ECG correspond to those of previous studies identifying atrioventricular conduction (Niemann et al 2013;Namdar et al 2010), ventricular depolarization (Kampmann et al 2002), and an increased LV Sokolow-Lyon index as a nonquantitative measure for hypertrophy (Linhart et al 2001;Weidemann et al 2005). Repolarization abnormalities are common in FD, as confirmed in previous studies (Niemann et al 2013;Namdar et al 2011).…”

Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals

“…80 -82 GL-3 accumulation in the vascular endothelium and other cells leads to hearing loss, myocardial microvascular ischemia, dysrhythmias, hypertrophic cardiomyopathy, valvular insufficiency, gastrointestinal symptoms, hypohidrosis, temperature and exercise intolerance, dysregulation of vascular tone and autonomic functions, obstructive lung disease, progressive renal insufficiency leading to kidney failure, and increases the risk of cerebrovascular accidents and myocardial infarctions. [83][84][85][86][87][88][89][90][91][92][93] Early death in hemizygotes occurs typically in the late fifth to early sixth decade from kidney failure, strokes, and cardiac events. 94 -95 Heterozygous females, previously thought to be asymptomatic "carriers," can have significant symptomatology, generally at a later age than hemizygous men.…”

A systematic review of the clinical effectiveness and cost-effectiveness of enzyme replacement therapies for Fabry's disease and mucopolysaccharidosis type 1

“…A further 24 studies have been included that provide information focused on one or only a few particular disease manifestations such as kidney disease, 75-78 cardiovascular/cardiac involvement, [79][80][81][82][83][84][85][86][87] cerebrovascular manifestations, 88-91 ocular, 92,93 vascular, 50 pulmonary, 94 psychiatric, 95 gastrointestinal 96 and auditory complications. 73 The results presented in the natural history studies are summarised by disease manifestation.…”