Fabry's disease presenting as ventricular tachycardia and left ventricular 'hypertrophy'.
Fabry's disease (FD) is a genetic disorder leading to deficiency of alpha-galactosidase A. Enzymatic replacement therapy has recently become available. Patients with classical FD develop multi-system involvement; however, there is an increasingly recognized cardiac variant that presents as unexplained left ventricular hypertrophy. We describe a patient with Fabry's disease who presented with ventricular tachycardia.
Joshi
Subodh B
SB
Washington Hospital Center, Washington, DC 20010, USA. subodh.joshi@gmail.com
Ahmar
Walid
W
Lee
Geoff
G
Aggarwal
Anuradha
A
D003937:Diagnosis, Differential; D004452:Echocardiography; D000795:Fabry Disease / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000000981:diagnostic imaging / Q000209:etiology* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D017180:Tachycardia, Ventricular / Q000000981:diagnostic imaging / Q000209:etiology* / Q000473:pathology; D000519:alpha-Galactosidase
D000519:alpha-Galactosidase