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.
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.
Authors: Katherine P Ponder; Thomas M O'Malley; Ping Wang; Patricia A O'Donnell; Anne M Traas; Van W Knox; Gustavo A Aguirre; N Matthew Ellinwood; Jason A Metcalf; Bin Wang; Emma J Parkinson-Lawrence; Meg M Sleeper; Doug A Brooks; John J Hopwood; Mark E Haskins Journal: Mol Ther Date: 2012-03-06 Impact factor: 11.454
Authors: Delphine Heron; Clarisse Baumann; Jean Jacques Benichou; Jean Paul Harpey; Martine Le Merrer Journal: Eur J Pediatr Date: 2004-06 Impact factor: 3.183
Authors: Christoph Kampmann; Christina Lampe; Catharina Whybra-Trümpler; Christiane M Wiethoff; Eugen Mengel; Laila Arash; Michael Beck; Elke Miebach Journal: J Inherit Metab Dis Date: 2013-09-24 Impact factor: 4.982
Authors: A J T Schuldt; T J Hampton; V Chu; C A Vogler; N Galvin; M D Lessard; J E Barker Journal: Proc Natl Acad Sci U S A Date: 2004-01-02 Impact factor: 11.205