Novel α-galactosidase A gene mutation in a Chinese Fabry disease family: A case report.

ABSTRACT:

Background

Fabry disease (FD) is a rare X-linked lysosomal storage disease caused by a deficiency of the enzyme α-galactosidase A.

Case summary

Herein, we analyzed a four-generation Chinese family. The proband is a 57-year-old woman who was diagnosed with left ventricular hypertrophy and atrial fibrillation 7 years ago. Echocardiography showed an end-diastolic diameter of the interventricular septum of 19.9 mm, left ventricular end-diastolic diameter of 63.1 mm, and moderate-to-severe mitral regurgitation. Cardiac magnetic resonance indicated an enlarged left heart and right atrium, decreased left ventricular systolic and diastolic function, a left ventricular ejection fraction of 20%, and thickening of the left ventricular septum. In March 2019, gene and enzyme activity tes

SUBMITTER: Fu AY 

PROVIDER: S-EPMC8790442 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature