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.
Fabry Disease: Percutaneous Transluminal Septal Myocardial Ablation Markedly Improved Symptomatic Left Ventricular Hypertrophy and Outflow Tract Obstruction in a Classically Affected Male
Article first published online: 11 APR 2005
Volume 22, Issue 4, pages 333–339, April 2005
How to Cite
Magage, S., Linhart, A., Bultas, J., Vojacek, J., Mates, M., Palecek, T., Popelová, J., Tintera, J., Aschermann, M., Goldman, M. E. and Desnick, R. J. (2005), Fabry Disease: Percutaneous Transluminal Septal Myocardial Ablation Markedly Improved Symptomatic Left Ventricular Hypertrophy and Outflow Tract Obstruction in a Classically Affected Male. Echocardiography, 22: 333–339. doi: 10.1111/j.1540-8175.2005.03191.x
- Issue published online: 11 APR 2005
- Article first published online: 11 APR 2005
- Fabry disease;
- α-galactosidase A deficiency;
- alcohol-induced percutaneous transluminal septal myocardial ablation;
- left ventricular hypertrophy
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.