Progression of left ventricularhypertrophy in fabry disease is faster in patients with phosphocreatine depletion: A phosphorus-31 magnetic resonance spectroscopy study

Abstract

PROGRESSION OF LEFT VENTRICULAR HYPERTROPHY IN FABRY DISEASE IS FASTER IN PATIENTS WITH PHOSPHOCREATINE DEPLETION: A PHOSPHORUS-31 MAGNETIC RESONANCE SPECTROSCOPY STU DY J. Bultas; T. Palecek; G. Dostalova; D. Karetova; M. Hajek*; and A. Linhart 2nd Department of Internal Cardiovascular Medicine, Charles University, Institute of Clinical and Experimental Medicine, * Prague, Czech Republic Background: Left ventricular hypertrophy (LVH) is a hallmark of cardiac involvement in Fabry disease (FD). LVH cannot be explained only by an accumulation of glycosphingolipids in the myocardium. The precise mechanisms involved in the progression of LVH have not yet been elucidated. Objective: The purpose of this study was to evaluate whether the impairment of myocardial energetic metabolism (ratio between phosphocreatine and adenosine triphosphate [PCr/c~ATP resp. PCr/[3ATP]) assessed by a phosphorus-31 magnetic resonance spectroscopy plays any role in progression of LVH determined by repetitive echocardiographic examinations. The lower ratio of PCr/ct resp. [BATP indicates the energetic deprivation of the myocardium. Methods: Patients with documented FD, without enzyme replacement therapy, underwent gated phosphorus-31 magnetic resonance spectroscopy at the time of diagnosis. During the follow-up of 5 to 13 years (mean, 7.6 years), the progression of LVH was evaluated by computing left ventricular (LV) mass using echocardiography. The mean increase of LV mass per year was compared with the initial PCr/c~ resp. IBATP ratio. Results: Sixteen patients (12 men, 4 women) were included in the study. Initially, LV mass was 245 (88) g. During follow-up, LV mass increased to 371 (122) g (ie, 17 g/y on average). The ratios PCr/c~ resp. [3ATP were significantly lower in patients with more rapid progression of LV mass during the observation period (r = -0.63 and-0.67, respectively) (Figure).