Key result
Anderson-Fabry disease is identified in ~6% of men with late-onset hypertrophic cardiomyopathy.
Why the study?
The cause of hypertrophic cardiomyopathy in the majority of patients is unknown, and the prevalence of Anderson-Fabry disease as a treatable cause in a HCM referral population was undetermined.
Cross-Sectional (n=153)
Yes
Absolute Event Rate: 6.3% vs 1.4%
Anderson-Fabry disease is a potentially treatable cause of unexplained hypertrophy that is present in approximately 6% of men diagnosed with late-onset hypertrophic cardiomyopathy.
May warrant alpha-Gal screening in late-onset HCM; extends prior estimates but remains hypothesis-generating.
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 (alpha-Gal) was measured in 79 men with HCM who were diagnosed at > or =40 years of age (52.9+/-7.7 years; range, 40-71 years) and in 74 men who were diagnosed at <40 years (25.9+/-9.2 years; range, 8-39 years). Five patients (6.3%) with late-onset disease and 1 patient (1.4%) diagnosed at <40 years had low alpha-Gal activity. Of these 6 patients, 3 had angina, 4 were in New York Heart Association class 2, 5 had palpitations, and 2 had a history of syncope. Hypertrophy was concentric in 5 patients and asymmetric in 1 patient. One patient had left ventricular outflow tract obstruction. All patients with low alpha-Gal activity had alpha-Gal gene mutations. CONCLUSION: Anderson-Fabry disease should be considered in all cases of unexplained hypertrophy. Its recognition is important given the advent of specific replacement enzyme therapy.
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Sachdev et al. (2002) conducted a cross-sectional in Hypertrophic Cardiomyopathy (n=153). Late-onset hypertrophic cardiomyopathy (diagnosis ≥40 years) vs. Early-onset hypertrophic cardiomyopathy (diagnosis <40 years) was evaluated on Prevalence of low plasma alpha-galactosidase A activity indicative of Anderson-Fabry disease. Anderson-Fabry disease was identified in 6.3% of men diagnosed with late-onset hypertrophic cardiomyopathy and 1.4% of those diagnosed before age 40, highlighting it as an underdiagnosed, treatable cause of unexplained hypertrophy.
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