Abstract 15760: Left Atrial Dysfunction in Patients With Anderson - Fabrys Disease Using Magnetic Resonance Imaging Derived Left Atrial Phasic Function

Abstract

Background: Anderson-Fabrys disease (AFD) is an x-linked lysosomal storage disease caused by deficiency of the enzyme alpha-galactosidase. This results in accumulation of globotriaosylceramide in various organs. The hallmark of cardiac involvement is left ventricular hypertrophy (LVH). However, autopsy studies have demonstrated involvement of the left atrium (LA) as well. There is currently limited data on left atrial volumes and function in patients with AFD. We sought to assess LA phasic volumes and function in patients with AFD using cardiac MRI (CMR) cine data. Method and Results: This was a retrospective study. Consecutive patients with clinically indicated CMR at our center were included. CMR acquired 2 and 4 chamber steady state free precession (SSFP) cine data were used to measure LA volume and phasic function with commercially available off-line software (eSieVVI, Siemens Medical System). We included 37 patients with AFD (18 males, mean age 48±13 yrs) and 22 age balanced healthy volunteers (8 males, mean age of 40±14 yrs). LA maximal and conduit volumes were not different between AFD and controls, but the LA minimal was larger (Table). Volume derived reservoir, conduit, and pump function were significantly reduced in AFD (Table). Strain measured reservoir and pump function were also significantly reduced in AFD. An inverse correlation was seen between LA reservoir strain and left ventricular (LV) mass (r=-0.53) and myocardial late gadolinium enhancement (LGE) measured using the 4 (r=-0.67) and 6 (r=-0.67) standard deviation thresholds. Conclusion: This is the first study to demonstrate abnormal LA function in patients with AFD using both volumetric and strain techniques. Patients with AFD had reduced LA reservoir and pump function with modest correlation with disease severity based on the burden of LV LGE and LV mass. Further studies are needed to assess the relationship between LA function and prognosis including the development of atrial arrhythmia.