Author + information
- Received June 11, 1985
- Revision received December 18, 1985
- Accepted December 30, 1985
- Published online May 1, 1986.
- Martin E. Goldman, MD, FACCa,
- Richard Cantor, MD, FACC,
- Marcia F. Schwartz, PHD, MD1,
- Maureen Baker, BS and
- Robert J. Desnick, PHD, MD
- ↵aAddress for reprints: Martin E. Goldman MD, Division of Cardiology, Mount Sinai Medical Center, One Gustave Levy Place, New York, New York 10029.
Fabry's disease is an X-linked recessive genetic deficiency of the enzyme alpha-galactosidase A, which leads to the pathologic deposition of neutral glycosphingolipids in lysosomes of the vascular endothelium of the heart, brain and kidney. The disease is progressive in hemizygous male patients, with increasing involvement of the major organs leading to death. Because cardiac involvement is a constant feature, echocardiograms were performed on 35 patients with Fabry's disease, 23 hemizygotes (aged 28.6 ± 14 years) and 12 heterozygotes (aged 31.6 ± 6 years), to determine whether cardiac involvement could be detected noninvasively.
The results demonstrated that hemizygous male patients had a greater aortic root diameter, thicker interventricular septum and greater ventricular mass than did heterozygous female patients. Left ventricular mass per square meter of body surface area correlated well with clinical disease severity (r = 0.68, p < 0.05), suggesting progressive glycosphingolipid deposition. Older heterozygotes (>25 years old) had more severe evidence of cardiac disease than did younger male patients. Although mitral valve prolapse was identified in 12 (54%) of 23 male hemizygotes and in 7 (58%) of 12 female heterozygotes, its presence did not correlate with clinical disease severity or other echocardiographic variables. Therefore, echocardiographic evidence of Fabry's disease appears to correlate with age-related disease severity and may be a useful noninvasive marker to follow disease progression and possible regression when appropriate therapy becomes available.
↵1 Dr. Schwartz was the recipient of a National Institutes of Health Postdoctoral Fellowship in Medical Genetics (5T32 HD 07105).
This study was supported in part by Grant 1-578 from the March of Dimes Birth Defects Foundation, White Plains, New York, and Grant AM 34045 from the National Institutes of Health, Bethesda, Maryland.
- Received June 11, 1985.
- Revision received December 18, 1985.
- Accepted December 30, 1985.
- American College of Cardiology Foundation