Abstract
Background: Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder with systemic dysfunction. The most common cause of death is reported as cardiovascular mortality. We aimed to investigate the association between the total defect score (TDS) using 123I-BMIPP isotope myocardial single photon emission computed tomography (SPECT) and prognosis in AFD patients. Methods: We enrolled 17 AFD patients (8 males, 49 years) who underwent rest 123I-BMIPP myocardial SPECT. TDS was calculated by 17 segmental accumulations in each image semi-quantitatively graded by 4-point scoring system. Cardiac events were defined as unexpected sudden deaths and admissions for worsening heart failure. Results: The left ventricular ejection fraction was 65 ± 11% and the plasma brain natriuretic peptide (BNP) level was 507 ± 970 pg/mL. TDS was correlated with plasma BNP level (r = 0.78, P < .001), left ventricular mass index (r = 0.75, P < .001) and age (r = 0.50, P = .04). In Kaplan-Meier survival analysis, cardiac event rate was significantly higher in high-TDS group than in the low-TDS group (P = .001, 6.7 ± 4.2 years follow-up). Conclusions: TDS assessed by 123I-BMIPP SPECT reflecting the cardiac inpairment is associated with poor outcome in AFD.
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