The α-galactosidase A N215S genotype causes a cardiac-specific variant of Fabry disease that mimics nonobstructive hypertrophic cardiomyopathy, often leading to delayed diagnosis due to the lack of prominent extracardiac involvement.
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Alerts clinicians to N215S Fabry in nonobstructive HCM; leaves open effects on management and progression.
Oder et al. (2017) studied this question.
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