This Article Full Text Full Text (PDF) All Versions of this Article: 26/4/839    most recent 01.ATV.0000209649.60409.38v1 Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Request Permissions Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Barbey, F. Articles by Hayoz, D. Search for Related Content PubMed PubMed Citation Articles by Barbey, F. Articles by Hayoz, D.

(Arteriosclerosis, Thrombosis, and Vascular Biology. 2006;26:839.)
© 2006 American Heart Association, Inc.

Vascular Biology

Cardiac and Vascular Hypertrophy in Fabry Disease

Evidence for a New Mechanism Independent of Blood Pressure and Glycosphingolipid Deposition

Frédéric Barbey; Noureddine Brakch; Ale Linhart; Nathalie Rosenblatt-Velin; Xavier Jeanrenaud; Salah Qanadli; Beat Steinmann; Michel Burnier; Tomas Palecek; Jan Bultas; Daniel Hayoz

From the Nephrology Department (F.B., M.B.), University Hospital, Lausanne, Switzerland; Department of Vascular Medicine (N.B., N.R.-V., D.H.), University Hospital, Lausanne, Switzerland; Second Department of Internal Medicine (A.L., T.P., J.B.), 1st School of Medicine, Charles University, Prague, Czech Republic; Radiology Department (S.Q.), University Hospital, Lausanne, Switzerland; Cardiology Department (X.J.), University Hospital, Lausanne, Switzerland; Department of Metabolism and Molecular Pediatrics (B.S.), Zürich, Switzerland.

Correspondence to Daniel Hayoz, Department of Vascular Medicine, CHUV 1011-Lausanne, Switzerland. E-mail daniel.hayoz{at}chuv.ch

Objectives— Fabry disease is an X-linked disorder resulting from -galactosidase A deficiency. The cardiovascular findings include left ventricular hypertrophy (LVH) and increased intima-media thickness of the common carotid artery (CCA IMT). The current study examined the possible correlation between these parameters. To corroborate these clinical findings in vitro, plasma from Fabry patients was tested for possible proliferative effect on rat vascular smooth muscle cells (vascular smooth muscle cell [VSMC]) and mouse neonatal cardiomyocytes.

Methods and Results— Thirty male and 38 female patients were enrolled. LVH was found in 60% of men and 39% of women. Increased CCA IMT was equally present in males and females. There was a strong positive correlation between LV mass and CCA IMT (r²=0.27; P<0.0001). VSMC and neonatal cardiomyocyte proliferative response in vitro correlated with CCA IMT (r²=0.39; P<0.0004) and LV mass index (r²=0.19; P=0.028), respectively.

Conclusions— LVH and CCA IMT occur concomitantly in Fabry suggesting common pathogenesis. The underlying cause may be a circulating growth-promoting factor whose presence has been confirmed in vitro.

The study examined and confirmed the correlation between 2 cardiovascular findings in Fabry disease, LVH and CCA IMT. Further in vitro investigation confirmed the presence of a circulating growth-promoting factor that may be at least partially responsible for these clinical findings.

Key Words: Fabry disease • growth-promoting factor • intima–media thickness • left ventricular hypertrophy

This article has been cited by other articles:

				C. Chimenti, N. Hamdani, N. M. Boontje, F. DeCobelli, A. Esposito, J. G.F. Bronzwaer, G. J.M. Stienen, M. A. Russo, W. J. Paulus, A. Frustaci, et al. Myofilament Degradation and Dysfunction of Human Cardiomyocytes in Fabry Disease Am. J. Pathol., June 1, 2008; 172(6): 1482 - 1490. [Abstract] [Full Text] [PDF]

				J. M. Aerts, J. E. Groener, S. Kuiper, W. E. Donker-Koopman, A. Strijland, R. Ottenhoff, C. van Roomen, M. Mirzaian, F. A. Wijburg, G. E. Linthorst, et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease PNAS, February 26, 2008; 105(8): 2812 - 2817. [Abstract] [Full Text] [PDF]

				J. T.R. Clarke Narrative Review: Fabry Disease Ann Intern Med, March 20, 2007; 146(6): 425 - 433. [Abstract] [Full Text] [PDF]

				D. F. Moore, O. V. Krokhin, R. C. Beavis, M. Ries, C. Robinson, E. Goldin, R. O. Brady, J. A. Wilkins, and R. Schiffmann Proteomics of specific treatment-related alterations in Fabry disease: A strategy to identify biological abnormalities PNAS, February 20, 2007; 104(8): 2873 - 2878. [Abstract] [Full Text] [PDF]