Non-invasive Determination of Myocardial Lipid Content in Fabry Disease by ¹H-MR Spectroscopy

Abstract

Purpose: In Fabry disease (FD), a progressive deposition of sphingolipids is reported in different organs. The present study applied ¹H magnetic resonance spectroscopy (MRS) to investigate the myocardial lipid content in FD.

Materials and Methods: In patients (PTS, n = 15) with genetically proven FD, ¹H MRS of the heart was acquired in the same examination as routine cardiac cine and late enhancement MR imaging. Healthy volunteers (n = 11) without history of cardiac disease served as control (CTL). Myocardial triglycerides in vivo were quantified in ¹H MRS. Left ventricular (LV) ejection fraction (EF) and late enhancement were assessed for the determination of LV systolic function, and onset or absence of myocardial fibrosis.

Results: All ¹H MRS revealed resonances for intramyocardial triglycerides. Clinical parameters, e. g. EF (PTS 64 ± 2 % vs. CTL 61 ± 1 %) were similar in PTS and CTL or showed a non-significant trend (LV mass). Apart from a single patient with elevated myocardial triglycerides, no significant impact of Fabry disease on the triglyceride/water resonance ratio (PTS 0.47 ± 0.11 vs. CTL 0.52 ± 0.11 %) was observed in our patient cohort.

Conclusion: A comprehensive cardiac evaluation of morphology, function as well as metabolism in Fabry PTS with suspected cardiac involvement is feasible in a single examination. No significant effect of myocardial triglyceride deposition could be observed in patients. The remarkably high myocardial triglyceride content in one patient with advanced FD warrants further studies in PTS with an extended history of the disease.

Zusammenfassung

Ziel: Bei Morbus Fabry (MF) wird eine progressive Ablagerung von Sphingolipiden in versch. Organen berichtet. Mittels der kardialen ¹H-Magnetresonanzspektroskopie (MRS) wurde in der vorliegenden Studie der myokardiale Triglycerid-Anteil in Patienten (PTS) untersucht.

Material und Methoden: In PTS (n = 15) mit gesichertem MF wurde eine kardiale ¹H-MRS zusammen mit Routine cineMRI- und Late-Enhancement(LE)-Aufnahmen durchgeführt. Gesunde Probanden (n = 11) ohne kardiale Vorerkrankungen dienten als Kontrolle (CTL). Myokardiale Triglyzeride wurden durch in vivo ¹H-MRS quantifiziert. Linksventrikuläre (LV) Ejektionsfraktion (EF) und LE-Aufnahmen dienten zur Evaluation der systolischen LV-Funktion und dem Vorliegen einer myokardialen Fibrose.

Ergebnisse: Intramyokardiale Triglyzeride konnten in allen ¹H-MRS beobachtet werden. Klinische Parameter, z. B. EF (PTS 64 ± 2 % vs. CTL 61 ± 1 %) waren ähnlich in beiden Gruppen bzw. zeigten einen nicht signifikanten Trend für die LV-Masse. Abgesehen von einem Patienten mit erhöhten myokardialen Triglyzeriden konnte kein signifikanter Einfluss auf das Triglyzerid/Wasser-Resonanz-Verhältnis (PTS 0,47 ± 0,11 vs. CTL 0,52 ± 0,11 %) bei MF nachgewiesen werden.

Schlussfolgerung: Cine MRI in Kombination mit LE-Aufnahmen und ¹H-MRS ermöglicht die Beurteilung der kardialen Morphologie, Funktion und des kardialen Metabolismus von MF PTS in einer singulären Untersuchung. Der bemerkenswert hohe myokardiale Triglyzerid-Anteil in einem Patienten mit prolongiertem Krankheitsverlauf macht weitere Untersuchungen bei PTS mit fortgeschrittenem Krankheitsstadium notwendig.

Key words

cardiac - MR-imaging - MR-spectroscopy - genetic defects - molecular imaging

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