Bernhard Petritsch, Presenter: Nothing to Disclose

Andreas Max Weng, Abstract Co-Author: Nothing to Disclose

Tobias Gassenmaier MD, Abstract Co-Author: Nothing to Disclose

Julian Donhauser MD, Abstract Co-Author: Nothing to Disclose

Christian Oliver Ritter MD, Abstract Co-Author: Nothing to Disclose

Meinrad Johannes Beer MD, Abstract Co-Author: Research Consultant, Shire plc

Herbert Koestler PhD, Abstract Co-Author: Research support, Siemens AG

Dietbert Hahn MD, Abstract Co-Author: Nothing to Disclose

Thorsten Alexander Bley MD, Abstract Co-Author: Nothing to Disclose

Michael Horn, Abstract Co-Author: Nothing to Disclose

In Fabry disease progressive deposition of sphingolipids in different organs has been reported. High-field 1H-MR-spectroscopy (MRS) allows non-invasive determination of myocardial lipid content. This study investigates the role of myocardial steatosis in the complex pathomechanism of Fabry cardiomyopathy.

In 30 patients (18 female, 12 male; 39 ± 13 years [range 17-61 years]) with genetically proven Fabry disease, myocardial triglycerides were quantified by 1H MRS (respiratory motion compensated, ECG triggered) in vivo using a 3 T scanner (Magnetom TRIO, Siemens Sector HealthCare, Germany). Single-voxel-spectroscopy was performed with and without water suppression. The voxel was positioned in the interventricular septum using a four-chamber and short-axis orientation at end systole to avoid signal contamination by epicardial fat. Two triglyceride peaks were measured (methylene groups at 1.3 ppm, methyl groups at 0.9 ppm) relative to the resonance from tissue water at 4.7 ppm. The myocardial lipid content was expressed as triglycerides-to-water ratio (%). In addition left ventricular (LV) mass and ejection fraction (EF) were assessed by MRI. 30 healthy volunteers without a history of cardiac or metabolic disease served as control group.

In all patients 1H spectra were successfully acquired. In Fabry patients the mean triglyceride-to-water ratio was 1.24% (min. 0.1%; max. 6.2%). The control group showed a significantly decreased lower (p=0.01) triglyceride-to-water ratio of 0.46% (min. 0.1%; max. 2.0%). Compared to healthy controls, LV mass (mean ± standard deviation; 127 ± 27 g) tended to be higher in Fabry patients (156 ± 66.5 g) (p<0.05). Mean EF was similar in both groups (65 % in Fabry patients vs. 63 % in controls).

High-field 1H-MR-spectroscopy using 3T scanners allows non-invasive assessment of myocardial lipid content in Fabry patients. In this patient collective we observed a significantly elevated myocardial triglyceride content. This finding warrants further studies with larger patient groups, especially concerning sub-group analysis of LE positive and negative Fabry patients.

Besides data regarding functional and morphological alterations MRS delivers new insights into myocardial lipid metabolism in Fabry patients. This circumstance might help to further optimize the therapy for this rare disease.

Petritsch, B, Weng, A, Gassenmaier, T, Donhauser, J, Ritter, C, Beer, M, Koestler, H, Hahn, D, Bley, T, Horn, M, Determination of Myocardial Triglyceride Content in Patients with Fabry Disease: A 3T 1H-Magnetic Resonance Spectroscopy Study  .  Radiological Society of North America 2014 Scientific Assembly and Annual Meeting, - ,Chicago IL. http://archive.rsna.org/2014/14011214.html