Onset and progression of the Anderson-Fabry disease related cardiomyopathy.
BACKGROUND
Cardiac involvement is responsible for substantial morbidity and mortality in Anderson-Fabry disease (AFD). We sought to document its onset and progression in a population of male and female AFD patients.


METHODS
We performed a cross sectional echocardiographic study of a cohort of 177 male and female AFD patients with subsequent longitudinal follow-up of 76 patients (38 males and 38 females; mean follow-up 4.5 years) who did not receive enzyme replacement therapy.


RESULTS
In this population, aged 3.3 to 70.8 years, a strong correlation between age and left ventricular mass indexed (LVMi, g/m(2.7)) was found in both males and females (P<0.0001 for both). At the initial examination 48.6% of the male patients and 36.4% of the female patients were classified as having left ventricular hypertrophy (LVH). The cumulative prevalence of LVH peaked at age 40 years in males and 60 years in females. In patients with longitudinal follow-up, LVMi increased by 4.07+/-1.03 g/m(2.7) per year in males and by 2.31+/-0.81 g/m(2.7) in females (P<0.01, Wilcoxon rank sum). In patients with LVH at baseline, the median progression rate was 5.52 g/m(2.7) per year in males and by 1.80 g/m(2.7) in females (P=0.12).


CONCLUSIONS
AFD is associated with high prevalence of LVH in both genders. However, the age of onset is delayed in females and progression rate slower.
University Children's Hospital Mainz, Germany.
Christoph
C
Kampmann
Ales
A
Linhart
Frank
F
Baehner
Tomas
T
Palecek
Christiane M
CM
Wiethoff
Elke
E
Miebach
Catharina
C
Whybra
Andreas
A
Gal
Jan
J
Bultas
Michael
M
Beck
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D009202:Cardiomyopathies / Q000000981:diagnostic imaging / Q000453:epidemiology* / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D018450:Disease Progression; D004452:Echocardiography; D000795:Fabry Disease / Q000188:drug therapy / Q000453:epidemiology* / Q000503:physiopathology*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000503:physiopathology; D016014:Linear Models; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D055815:Young Adult