Circulation · 1992 · 68 citations · 33 references
MedicineCardiologySurgeryCardiothoracic SurgeryPediatric CardiologyStructural Heart DiseaseAortic StenosisAortic Valve DiseaseCongenital Heart DiseaseMitral StenosisMitral Valve DiseaseValvular Heart DiseaseCongenital Valve DiseaseCongenital Valvular Heart DiseaseHeart Valve MalformationsLysosomal Storage DefectsMucopolysaccharide AccumulationPreoperative Ultrasound AssessmentValve AbnormalitiesValves
BACKGROUND: Maroteaux-Lamy syndrome is a lysosomal storage disease of mucopolysaccharide metabolism (MPS type VI) that may involve the mitral and aortic valves. Affected patients have other skeletal and oropharyngeal malformations that complicate anesthetic and surgical management. METHODS AND RESULTS: The present report describes the clinical, echocardiographic, and pathological findings in four patients with Maroteaux-Lamy syndrome. Two of three siblings underwent successful double-valve replacement for aortic and mitral valve stenoses. The third sibling, whose aortic and mitral valves were thick and fibrotic, died from septicemia after hip surgery. A fourth, unrelated patient also had successful double-valve replacement. CONCLUSIONS: Our experience emphasizes the potential difficulties in preoperative assessment and surgical treatment as well as the unique problems related to airway management in patients with this syndrome.
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The Metabolic Basis of Inherited Disease
John T. Garland · JAMA · 1990 · 658 citations
Heritable disorders of connective tissue
Victor A. McKusick · Journal of Chronic Diseases · 1955 · 446 citations
Hypoplasia of the aortic root : The problem of aortic valve replacement
Rowan Nicks, T. B. Cartmill, L. Bernstein · Thorax · 1970 · 341 citations · Full text