Population
90 consecutively recruited hypertrophic cardiomyopathy (HCM) probands and their relatives
Design
Cross-sectional
Authors
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Supports targeted GLA testing in select HCM patients; leaves open whether routine screening improves outcomes before prospective validation.
Genetic testing for Fabry disease is recommended in women with hypertrophic cardiomyopathy without sarcomere gene mutations, as enzyme measurements alone may be insufficient.
Havndrup et al. (2010) studied this question.
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