Heartinvolvement in Fabry disease
The authors report a 36-year old male patient with Fabry disease manifested by severe left ventricular hypertrophy. Diagnosis was confirmed by a low α-galacosidase A activity and с. 644А>G mutation in the GLA gene. The awareness of physicians of Fabry disease is low. Therefore, diagnosis is frequently late.
Fabrydisease, α -galactosidase, leftventricu lar hypertrophy.