Low frequency of Fabry disease in patients with common heart disease.

ABSTRACT:

Purpose

To test the hypothesis that undiagnosed patients with Fabry disease exist among patients affected by common heart disease.

Methods

Globotriaosylceramide in random whole urine using tandem mass spectroscopy, α-galactosidase A activity in dried blood spots, and next-generation sequencing of pooled or individual genomic DNA samples supplemented by Sanger sequencing.

Results

We tested 2,256 consecutive patients: 852 women (median age 65 years (19-95)) and 1,404 men (median age 65 years (21-92)). The primary diagnoses were coronary artery disease (n = 994), arrhythmia (n = 607), cardiomyopathy (n = 138), and valvular disease (n = 568). Urinary globotriaosylceramide was elevated in 15% of patients and 15 males had low α-galactosidase A activity. GLA variants found i

SUBMITTER: Schiffmann R 

PROVIDER: S-EPMC9302444 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature