The natural history of left ventricular systolic function in Anderson-Fabry disease

• Published in: Heart (British Cardiac Society) 2005-04, Vol.91 (4), p.533-534
• Main Authors: Shah, J S, Lee, P, Hughes, D, Thaman, R, Sachdev, B, Pellerin, D, Mehta, A, Elliott, P M
• Format: Article
• Language: English
• Subjects: Adult; AFD; Aged; Aged, 80 and over; Anderson-Fabry disease; Biological and medical sciences; Cardiology. Vascular system; Cardiomyopathy; Confidence intervals; diastolic posterior wall thickness; Disease Progression; end diastolic left ventricular cavity diameter; end systolic left ventricular cavity diameter; enzyme replacement therapy; Errors of metabolism; ERT; Fabry Disease - complications; Fabry’s disease; Female; Females; fractional shortening; Geometry; Heart attacks; Heart failure; Humans; interventricular septal thickness; IVS; left ventricular; left ventricular hypertrophy; left ventricular mass index; Lipids (lysosomal enzyme disorders, storage diseases); LVed; LVes; LVH; LVMI; Male; Medical sciences; Metabolic diseases; Middle Aged; natural history; Plasma; relative wall thickness; Rodents; RWT; Scientific Letters; Systole; systolic function; Ventricular Dysfunction, Left - etiology; α-Gal; α-galactosidase A
• ISSN: 1355-6037; 1468-201X
• DOI: 10.1136/hrt.2004.035584

Histologically, AFD is characterised by myocyte vacuolation and intralysosomal inclusions on electron microscopy. 4 Moreover, substrate accumulation accounts for only 1% of the increased LV mass seen in AFD patients. 4 We have recently shown that patients with AFD have areas of interstitial expansion on cardiac magnetic resonance imaging, 5 suggesting that progressive fibrosis may contribute to the reduction in systolic performance. [...]this study suggests that systolic performance should be monitored in patients with AFD, and that systolic function may be a useful surrogate marker of response to ERT.