Valvular and Congenital Heart DiseaseNew insights in cardiac structural changes in patients with Fabry’s disease☆,☆☆
Section snippets
Study population
Between December 1996 and November 1998, 50 male subjects from 7 families affected by Fabry’s disease were screened. Thirty men identified as affected were asked to contact their family members (including women) to participate in the screening program. Thirty-three subjects (19 women and 14 men) finally consented to participate in this study. Echocardiographic and clinical evaluation was completed in 30 subjects, including 17 heterozygous women and 13 male hemizygotes. No homozygous women were
Results
Clinical characteristics of the study population are listed in Table I. Data are mean ± SD or n (%).Parameter Women (n = 17) Men (n = 13) Age (y) 35 ± 19 39 ± 10 Height (cm) 163 ± 5 176 ± 7‡ Weight (kg) 61 ± 13 71 ± 11* BSA (m2) 1.65 ± 0.16 1.87 ± 0.17† Blood pressure (mm Hg) Systolic 122 ± 16 133 ± 16 Diastolic 79 ± 6 85 ± 9* Risk factors, n (%) Hypertension 3 (18%) 5 (38%) Hypercholesterolemia 7 (41%) 4 (31%) Smoking 4 (24%) 0 (0%)* Diabetes 1 (6%) 0 (0%) *P <.05. †P <.01. ‡P <.001.
Discussion
The results of our study confirm the presence of frequent cardiac involvement in Fabry’s disease, more severe in hemizygous male patients than in heterozygous female subjects. Significant structural abnormalities are manifested mainly in patients older than 30 years and appear progressive with aging. These findings are in agreement with previous data from other authors.2
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Supported by a grant from the Internal Grant Agency of Ministry of Health of the Czech Republic No. 3579-3.
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Reprint requests: Aleš Linhart, MD, PhD, Second Department of Internal Medicine, First School of Medicine, Charles University, U nemocnice 2, 128 08 Prague 2, Czech Republic. E-mail: [email protected]