title: Fabry disease: percutaneous transluminal septal myocardial ablation markedly improved symptomatic left ventricular hypertrophy and outflow tract obstruction in a classically affected male.
abstract: Fabry disease (alpha-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.
authors.affiliation: 2nd Department of Internal Medicine, 1st School of Medicine, Charles University, Prague, Czech Republic.
authors.forename: Sudheera
authors.initials: S
authors.lastname: Magage
authors.forename: Ales
authors.initials: A
authors.lastname: Linhart
authors.forename: Jan
authors.initials: J
authors.lastname: Bultas
authors.forename: Jan
authors.initials: J
authors.lastname: Vojacek
authors.forename: Martin
authors.initials: M
authors.lastname: Mates
authors.forename: Tomas
authors.initials: T
authors.lastname: Palecek
authors.forename: Jana
authors.initials: J
authors.lastname: Popelová
authors.forename: Jaroslav
authors.initials: J
authors.lastname: Tintera
authors.forename: Michael
authors.initials: M
authors.lastname: Aschermann
authors.forename: Martin E
authors.initials: ME
authors.lastname: Goldman
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Desnick
mesh_terms: D006328:Cardiac Catheterization / Q000379:methods*; D017115:Catheter Ablation / Q000379:methods; D018618:Echocardiography, Doppler, Color; D000795:Fabry Disease / Q000150:complications / Q000175:diagnosis*; D005500:Follow-Up Studies; D006334:Heart Function Tests; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000150:complications / Q000000981:diagnostic imaging / Q000628:therapy*; D008297:Male; D008875:Middle Aged; D018570:Risk Assessment; D012720:Severity of Illness Index; D016896:Treatment Outcome; D014694:Ventricular Outflow Obstruction / Q000150:complications / Q000000981:diagnostic imaging / Q000628:therapy*