Elsevier

American Heart Journal

Volume 139, Issue 6, June 2000, Pages 1101-1108
American Heart Journal

Valvular and Congenital Heart Disease
New insights in cardiac structural changes in patients with Fabry’s disease,☆☆

https://doi.org/10.1067/mhj.2000.105105Get rights and content

Abstract

Background Fabry’s disease is an X-linked recessive genetic deficiency of the enzyme α-galactosidase leading to the pathologic intracellular deposition of neutral glycosphingolipids. Although cardiac involvement is frequent, there is controversy regarding the character of the associated left ventricular (LV) changes and the severity of valvular involvement. Methods Clinical evaluation (disease severity scaling, laboratory tests, and echocardiography) was performed in 13 hemizygous men (mean age 39 ± 10 years) and 17 heterozygous women (mean age 35 ± 19 years). Results LV hypertrophy (LVH) was frequent in subjects older than 30 years, more often in men (61%) than in women (18%, P <.001). The degree of LVH was independently associated with age and the logarithm of α-galactosidase activity (r2 = 0.70, P <.001). The predominant LV geometric patterns were concentric LVH and remodeling, both present in 11 subjects (36%). Three patients had an asymmetric septal hypertrophy mimicking hypertrophic cardiomyopathy. In most subjects with LVH, the systolic function was normal and severe diastolic dysfunction (restrictive pattern) was not noted. Minor structural abnormalities of the mitral valve were found in 17 subjects (57%). The aortic valve was affected in 14 patients (47%). Valvular abnormalities were frequently accompanied by regurgitation of minor to mild degree. The presence of LVH or valvular changes was associated with increased disease severity. Conclusions Echocardiographically detectable cardiac involvement is frequent with Fabry’s disease, particularly in older subjects, and more pronounced in affected hemizygous men than in heterozygous women. LVH is frequently observed but usually not associated with significant systolic or restrictive diastolic dysfunction. Concentric LVH and remodeling appear to be the major manifestations of LV structural alteration. The frequently noted valvular abnormalities were not associated with a significant degree of regurgitation. Valvular and especially LV structural changes may serve as a useful marker of disease severity. (Am Heart J 2000;139:1101-8.)

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.

. Clinical characteristics of study population

ParameterWomen (n = 17)Men (n = 13)
Age (y)35 ± 1939 ± 10
Height (cm)163 ± 5176 ± 7
Weight (kg)61 ± 1371 ± 11*
BSA (m2)1.65 ± 0.161.87 ± 0.17
Blood pressure (mm Hg)
 Systolic122 ± 16133 ± 16
 Diastolic79 ± 685 ± 9*
Risk factors, n (%)
 Hypertension3 (18%)5 (38%)
 Hypercholesterolemia7 (41%)4 (31%)
 Smoking4 (24%)0 (0%)*
 Diabetes1 (6%)0 (0%)
*P <.05. P <.01. P <.001.

Data are mean ± SD or n (%).

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

References (23)

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Supported by a grant from the Internal Grant Agency of Ministry of Health of the Czech Republic No. 3579-3.

☆☆

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]

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