Mitral stenosis secondary to Hurler's syndrome.

Valvular disease in mucopolysaccharidosis type I-Hurler (MPS/1H) is relativ ely common, but mitral stenosis is very rare in this genetic abnormality. The authors describe the case of a 16-year old girl with Hurler's syndrome diagnosed at 4 years of age. The morphological features were characteristic : bridged nose, thickened lips, macroglassia, short neck (gargoylism, shor t, thick fingers and limitation of brachial and fore-arm flexion. She prese nted with stage II dyspnoea and paroxysmal nocturnal dyspnoea. Radiological and echocardiographic studies revealed severe mitral stenosis with haemodynamic complications requiring mitral valve replacement. Anatomo pathological analysis of the mitral valve confirmed mucopolysaccharide depo sits as the cause of this particular case of mitral stenosis.