This case highlights the importance of genetic testing for Fabry disease in patients presenting with unexplained left ventricular hypertrophy and atrial fibrillation, even in females.
Case underscores need to consider Fabry disease in women with AF; leaves open optimal screening strategies.
Clinical case demonstrates a cardiovascular phenotype of Fabry disease — rare inherited disorder, linked with female sex. Clinically manifest Fabry disease is described in female patient with paroxysmal atrial fibrillation. The specifics of differential diagnostics described, as of management, and indications for genetic diagnostics and prescription of genotype-specific enzyme replacement therapy.
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Харлап et al. (2018) studied this question.
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