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Fabry's Disease Cardiomyopathy

Echocardiographic Detection of Endomyocardial Glycosphingolipid Compartmentalization

Maurizio Pieroni, MD, PhD^_*, Cristina Chimenti, MD, PhD^,, Francesco De Cobelli, MD, Emanuela Morgante, MD^||, Alessandro Del Maschio, MD, Carlo Gaudio, MD, Matteo Antonio Russo, MD^||,¶ and Andrea Frustaci, MD^,,_*

^_* Ospedale Multimedica, Milan, Italy
Heart and Great Vessels Department "Attilio Reale," "La Sapienza" University, Rome, Italy
National Institute for Infectious Diseases "Lazzaro Spallanzani," Rome, Italy
Radiology Department, San Raffaele Hospital, Milan, Italy
^|| Pathology Department, "La Sapienza" University, Rome, Italy
^¶ "San Raffaele Pisana" Institute, Rome, Italy

View larger version (69K): [in a new window]   Figure 1 Two-dimensional echocardiography in four-chamber apical view and left ventricular endomyocardial biopsy from two patients (Patient #4 and Patient #18 of Table 2) with Fabry's disease cardiomyopathy (A,D and B,E, respectively) and a patient with hypertrophic cardiomyopathy (C,F). Comparison of the three echocardiographic frames reveals the presence of a binary appearance of left ventricular endocardial border in the two Fabry patients (A,B). This echocardiographic finding reflects the glycosphingolipids compartmentalization involving a thickened endocardium (End) with enlarged and engulfed smooth muscle cells (SMC), a subendocardial empty space (SES), and a prominent involvement of subendocardial myocardial layer (SL), while the middle layer (ML) appears partially spared (D,E). The echocardiographic pattern is absent in hypertrophic cardiomyopathy (C), despite a similar thickening of the endocardium (F).

View larger version (98K): [in a new window]   Figure 2 Semithin (A) and ultrathin (B,C) sections from left ventricular endomyocardial biopsy of the same patient of Figures 1A and 1D. In panel A, osmiophilic bodies intensely stained by Azur II are seen in the endocardium, in the subendocardial space, and in myocardium. In the subendocardial space, they are localized in the region of empty spaces seen at H and E histology sections. In the myocardial tissue, a gradient of storage material can be appreciated from the subendocardial to the inner layer. At electron microscopy (B,C) the osmiophilic bodies appear to consist of glycosphingolipids organized in membrane-bounded bodies diffusely present in the context of the endocardium (End), occupying the subendocardial space as a free storage material and inside the myocytes (Myo). Arrows indicate membrane-bounded bodies at the boundaries between a myocardiocyte and the subendocardial space, suggesting a process of release from the cell to the extracellular space. (A) Azur II original magnification x100. (B,C) Bars = 1 µm.