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J Am Coll Cardiol, 2007; 50:27-28, doi:10.1016/S0735-1097(07)03614-5 © 2007 by the American College of Cardiology Foundation |
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-galactosidase A (
-gal), an enzyme that catalyzes the breakdown of globotriaosylceramides (GL-3). In patients with FD, GL-3 accumulates in lysosomes and may lead to ventricular hypertrophy. Monserrat and colleagues studied the prevalence of FD in over 500 patients with hypertrophic cardiomyopathy (HCM) using an initial test of serum activity of
-gal and then sequencing the gene in those with low serum activity. Three percent of these HCM patients had low serum activity, and 1% were confirmed to have FD. Studies of these patients families allowed the diagnosis of 14 carriers, including 5 patients with cardiac disease. An accompanying editorial by Ackerman and Landstrom cautions that screening all patients with HCM has low yield and would not be cost-effective, but that targeted screening of patients with a suspicious family history may be viable. See pages 2399 and 2404. Related articles in JACC:
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