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.


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.


CONCLUSIONS
Anderson-Fabry disease should be considered in all cases of unexplained hypertrophy. Its recognition is important given the advent of specific replacement enzyme therapy.
Sachdev
B
B
Department of Cardiological Sciences, St Georges Hospital Medical School, London, UK.
Takenaka
T
T
Teraguchi
H
H
Tei
C
C
Lee
P
P
McKenna
W J
WJ
Elliott
P M
PM
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D002312:Cardiomyopathy, Hypertrophic / Q000097:blood / Q000175:diagnosis / Q000453:epidemiology*; D002648:Child; D015331:Cohort Studies; D015897:Comorbidity; D004252:DNA Mutational Analysis; D004452:Echocardiography; D004562:Electrocardiography; D000795:Fabry Disease / Q000097:blood / Q000175:diagnosis / Q000453:epidemiology*; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D015995:Prevalence; D012017:Referral and Consultation; D006113:United Kingdom / Q000453:epidemiology; D000519:alpha-Galactosidase / Q000097:blood / Q000235:genetics
D000519:alpha-Galactosidase