Unusual echocardiographic pattern in Gaucher's disease.
Described in this paper is a 73-year-old Ashkenazi Jew affected with adult type 1 (nonneuronopathic form) Gaucher's disease. This was diagnosed at the age of 46 during an investigation of hepatosplenomegaly. No other members of his family were known to be affected with this disorder. The patient has been periodically examined at our Institute and has been free of all cardiopulmonary symptoms. This description emphasizes his echocardiographic pattern which revealed left ventricular hypertrophy, a septal muscular hump, and an extended area of apical akinesis. Myocardial involvement in Gaucher's disease has seldom been reported in the past.
D000368:Aged; D009202:Cardiomyopathies / Q000150:complications* / Q000175:diagnosis; D004452:Echocardiography; D005776:Gaucher Disease / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D008297:Male