Fabry disease: percutaneous transluminal septal myocardial ablation markedly improved symptomatic left ventricular hypertrophy and outflow tract obstruction in a classically affected male.
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.
Magage
Sudheera
S
2nd Department of Internal Medicine, 1st School of Medicine, Charles University, Prague, Czech Republic.
Linhart
Ales
A
Bultas
Jan
J
Vojacek
Jan
J
Mates
Martin
M
Palecek
Tomas
T
Popelová
Jana
J
Tintera
Jaroslav
J
Aschermann
Michael
M
Goldman
Martin E
ME
Desnick
Robert J
RJ
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*