Prevalence of Fabry Disease in a Cohort of 508 Unrelated Patients With Hypertrophic Cardiomyopathy

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Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy.

OBJECTIVES We aimed to study the prevalence of Fabry disease (FD) in patients with hypertrophic cardiomyopathy (HCM). BACKGROUND There are limited and controversial data about the prevalence of FD in patients with HCM. METHODS We screened the plasma alpha-galactosidase A activity from 508 unrelated patients with HCM (328 men, 180 women, ages 58 +/- 16 years). Patients with low activity (0% ...

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Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy.

BACKGROUND Although studies have suggested that "late-onset" hypertrophic cardiomyopathy (HCM) may be caused by sarcomeric protein gene mutations, the cause of HCM in the majority of patients is unknown. This study determined the prevalence of a potentially treatable cause of hypertrophy, Anderson-Fabry disease, in a HCM referral population. METHODS AND RESULTS Plasma alpha-galactosidase A (a...

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Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy.

BACKGROUND Fabry disease (FD) has been recognized as the cause of left ventricular hypertrophy in 6% of men with late-onset hypertrophic cardiomyopathy (HCM). Although FD is considered a recessive X-linked disorder, affected women are increasingly reported. The aim of our study was to determine the prevalence of FD in female patients with HCM. METHODS AND RESULTS Thirty-four consecutive women...

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ژورنال

عنوان ژورنال: Journal of the American College of Cardiology

سال: 2007

ISSN: 0735-1097

DOI: 10.1016/j.jacc.2007.06.062