Tag Archives: left ventricular hypertrophy

Introduction Fabry disease is a rare X-chromosome-linked disorder that results from alpha-galactosidase A enzyme deficiency. It is broadly divided into classical (earlier onset, low enzyme activity) and non-classical (milder, later-onset and some residual activity). It is underdiagnosed despite the availability of diagnostic tests, such as blood (plasma or leucocyte alpha-galactosidase A enzyme) and genetic testing. Due to its heterogeneous nature as a multi-system disorder, Fabry disease (FD) is rarely considered. Patients often present with non-specific symptoms, such as fatigue and gastrointestinal symptoms akin to irritable bowel, taking

Case presentation An 83-year-old man presented with progressive shortness of breath and moderate lower extremity oedema over a period of several months. His past medical history is notable for hypertension, non-insulin dependent diabetes, bilateral carpal tunnel syndrome and aortic stenosis. At the time of presentation he was found to have new-onset atrial flutter with rapid ventricular response. An echocardiogram demonstrated moderate concentric left ventricular hypertrophy and moderate aortic stenosis with an ejection fraction of 55% and mildly reduced right ventricular function. A left heart catheterisation confirmed the presence of modera

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