Related Experiment Videos
[Mitral stenosis secondary to Hurler's syndrome]
S Kraiem1, D Lahidheb, N Chehaibi
1Service de cardiologie, hôpital Habib Thameur, 8, av. Ali Ben Ayed, Monfleury, Tunis 1008, Tunisie.
Insights
Mitral stenosis is a rare complication of Hurler syndrome (mucopolysaccharidosis type I-Hurler). This case highlights mucopolysaccharide deposits causing severe mitral stenosis, necessitating valve replacement in a 16-year-old patient.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Valvular disease is common in mucopolysaccharidosis type I-Hurler (MPS I-H).
- Severe mitral stenosis is an exceptionally rare manifestation of MPS I-H.
- Early diagnosis and characteristic morphological features are crucial for managing MPS I-H.
Observation:
- A 16-year-old female with Hurler syndrome, diagnosed at age 4, presented with dyspnea.
- Morphological features included gargoylism, macroglossia, and limited joint flexion.
- Severe mitral stenosis with hemodynamic compromise was identified via imaging.
Findings:
- The patient required mitral valve replacement due to severe mitral stenosis.
- Anatomopathological examination confirmed mucopolysaccharide deposition as the etiology.
- This case underscores the potential for rare cardiac complications in MPS I-H.
Implications:
- Highlights the importance of cardiac monitoring in MPS I-H patients, even with rare presentations.
- Suggests mucopolysaccharide deposition can lead to severe valvular dysfunction.
- Informs clinical management strategies for Hurler syndrome patients with cardiac involvement.
Abstract:
Valvular disease in mucopolysaccharidosis type I-Hurler (MPS/1H) is relatively 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, short, thick fingers and limitation of brachial and fore-arm flexion. She presented with stage II dyspnoea and paroxysmal nocturnal dyspnoea. Radiological and echocardiographic studies revealed severe mitral stenosis with haemodynamic complications requiring mitral valve replacement. Anatomopathological analysis of the mitral valve confirmed mucopolysaccharide deposits as the cause of this particular case of mitral stenosis.