Mitral stenosis in the Maroteaux-Lamy syndrome: a treatable cause of dyspnoea.
The case is reported of a young woman with the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI) who presented with rapidly progressive dyspnoea due to mitral stenosis. Mitral valve replacement was performed and the appearance of the valve was typical of mucopolysaccharide infiltration. Dyspnoea in patients with the Maroteaux-Lamy syndrome may be due primarily to cardiac valve involvement, and in this setting, valve surgery is safe and effective.
Marwick
T H
TH
Hallstrom Institute of Cardiology, Royal Prince Alfred Hospital, Camperdown, Sydney, Australia.
Bastian
B
B
Hughes
C F
CF
Bailey
B P
BP
D000328:Adult; D004417:Dyspnea / Q000209:etiology* / Q000473:pathology; D004452:Echocardiography; D005260:Female; D006350:Heart Valve Prosthesis; D006801:Humans; D008943:Mitral Valve / Q000473:pathology; D008946:Mitral Valve Stenosis / Q000209:etiology* / Q000473:pathology / Q000601:surgery; D009087:Mucopolysaccharidosis VI / Q000150:complications* / Q000473:pathology