[Myocardial involvement in Fabry's disease (author's transl)].
Definitely impaired coronary reserve, as recorded in cases with coronary microangiopathy, was demonstrated in a 48-year-old female non-smoker with angina, positive ECG exercise tolerance test and negative coronary angiography with normal coronary circulation at rest. Myocardial biopsy from the right ventricle demonstrated electron-microscopically the lamellar, intracytoplasmic inclusion bodies described in Fabry's disease. This diagnosis of an X-chromosomal recessive metabolic disorder with prominent myocardial involvement was confirmed by the results of further investigations.
D000787:Angina Pectoris / Q000150:complications / Q000175:diagnosis; D006328:Cardiac Catheterization; D009202:Cardiomyopathies / Q000150:complications* / Q000175:diagnosis; D004562:Electrocardiography; D005080:Exercise Test; D000795:Fabry Disease / Q000150:complications* / Q000175:diagnosis; D005260:Female; D006801:Humans; D008875:Middle Aged
Myokardiale Beteiligung bei M. Fabry.