Fabry Disease: Percutaneous Transluminal Septal Myocardial Ablation Markedly Improved Symptomatic Left Ventricular Hypertrophy and Outflow Tract Obstruction in a Classically Affected Male

doi:10.1111/j.1540-8175.2005.03191.x

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Wiley InterScience

Echocardiography

Volume 22 Issue 4, Pages 333 - 339

Published Online: 11 Apr 2005

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Fabry Disease: Percutaneous Transluminal Septal Myocardial Ablation Markedly Improved Symptomatic Left Ventricular Hypertrophy and Outflow Tract Obstruction in a Classically Affected Male

Sudheera Magage, M.D.*, Ales Linhart, M.D.*, Jan Bultas, M.D.*, Jan Vojacek, M.D.†, Martin Mates, M.D.†, Tomas Palecek, M.D.*, Jana Popelová, M.D.†, Jaroslav Tintera, M.D.‡, Michael Aschermann, M.D.*, Martin E. Goldman, M.D.§, and Robert J. Desnick, Ph.D., M.D.¶

*2nd Department of Internal Medicine, 1st School of Medicine and †Department of Interventional Cardiology, 2nd School of Medicine, Charles University, Prague, Czech Republic , ‡Radiodiagnostic Department, Institute of Clinical and Experimental Medicine, Prague, Czech Republic , and §Zena and Michael A. Weiner Cardiovascular Institute and Department of Medicine and ¶Department of Human Genetics, Mount Sinai School of Medicine of New York University, New York, New York

Address for correspondence and reprint requests: Robert J. Desnick, Ph.D., M.D., Department of Human Genetics, Mount Sinai School of Medicine of New York University, Fifth Avenue and 100th Street, New York, NY 10029. Fax: 212-360-1809; E-mail: rjdesnick@mssm.edu

This work was supported in part by grants to R.J.D. from the National Institutes of Health including a research grant (R37 DK 34045 Merit Award), a grant (5 MO1 RR00071) for the Mount Sinai General Clinical Research Center from the National Center of Research Resources, a grant (5 P30 HD28822) for the Mount Sinai Child Health Research Center, and a research grant from the Genzyme Corporation.

KEYWORDS

Fabry disease • α-galactosidase A deficiency • alcohol-induced percutaneous transluminal septal myocardial ablation • left ventricular hypertrophy

(ECHOCARDIOGRAPHY, Volume 22, April 2005)

ABSTRACT

Fabry disease (α-galactosidase A deficiency) is an X-linked recessive lysosomal storage disease in which left ventricular hypertrophy (LVH) is common, and if severe, may mimic hypertrophic obstructive cardiomyopathy. Alcohol-induced percutaneous transluminal septal myocardial ablation (PTSMA) has been used as a safe and effective method to alleviate LVH obstruction in patients with hypertrophic obstructive cardiomyopathy (HCM). We describe a case of a classically affected Fabry 53-year-old male with symptomatic HCM (NYHA class III with exertional angina) who was treated with PTSMA. The procedure safely and effectively alleviated symptomatic left ventricular outflow tract obstruction at long-term follow-up, and the patient's NYHA classification was reduced to NYHA class I to II.

DIGITAL OBJECT IDENTIFIER (DOI)

10.1111/j.1540-8175.2005.03191.x About DOI