Fabry disease: a mimic for obstructive hypertrophic cardiomyopathy?

Abstract
This investigation was approved by the Mayo Foundation institutional review board. Medical histories were reviewed from 100 consecutive patients who had undergone subaortic ventricular septal myectomy for the treatment of HCM at the Mayo Clinic from January 1997 through December 1999. Patients with hypertension or valvar disease were not included. Patient demographics, clinical status, echocardiographic data, and haemodynamic data were recorded. The myectomy tissue was examined with a Philips CM12/STEM transmission electron microscope for evidence of Fabry disease. By transmission electron microscopy, the presence of myeloid figures within the majority of myocytes is characteristic of symptomatic Fabry cardiomyopathy. Conversely, their absence from all myocytes examined by transmission electron microscopy is indicative of the absence of Fabry cardiomyopathy.