■ Zusammenfassung Hintergrund Der M. Fabry ist eine Speicherkrankheit infolge eines
lysosomalen Enzymdefektes. Der M. Fabry kann als kardiale Manifestation in Form einer …

Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the
alpha-galactosidase gene. The most frequent cardiac presentation of Fabry disease is …

We report a clinical case of a young female with Fabry disease but without left ventricular
hypertrophy, which fulfills the diagnostic criteria of left ventricular noncompaction (LVNC). To …

Fabry disease is the second most common inherited (X-linked recessive) lysosomal storage
disease associated with multiple organ involvement. Cardiac involvement of Fabry disease …

We treated a male with cardiac Fabry disease, confirmed after endocardial biopsy, in whom
left ventricular (LV) wall thickening was observed by transthoracic echocardiogram (TTE) …

Aims Fabry cardiomyopathy is characterized by glycosphingolipid storage and increased
myocardial trabeculation has also been demonstrated. This study aimed to explore by …

A54-year-old man presented with dyspnea on effort. Echocardiogram revealed reduced
apical wall motion of the left ventricle (LV) with extreme hypertrophy of the interventricular …

A54-year-old man presented with dyspnea on effort. Echocardiogram revealed reduced
apical wall motion of the left ventricle (LV) with extreme hypertrophy of the interventricular …

MRI showed marked thickening of the left ventricle (Figure 1, arrow). Cardiac catheterization
revealed a mean right atrial pressure of 16 mm Hg with large a waves up to 26 mm Hg …

A43-year-old male patient with cardiac Fabry disease was followed up by single-photon
emission computed tomography (SPECT) and 18F-deoxyglucose (FDG) positron emission …