Valvular heart disease in four patients with Maroteaux-Lamy syndrome

• Published in: Circulation (New York, N.Y.) Vol. 85; no. 1; pp. 188 - 195
• Main Authors: TAN, C. T. T, SCHAFF, H. V, MILLER, F. A, EDWARDS, W. D, KARNES, P. S
• Format: Conference Proceeding Journal Article
• Language: English
• Published: Hagerstown, MD Lippincott Williams & Wilkins 1992
• Subjects: Adult; Aortic Valve Stenosis - diagnostic imaging; Aortic Valve Stenosis - etiology; Aortic Valve Stenosis - pathology; Biological and medical sciences; Echocardiography; Echocardiography, Doppler; Errors of metabolism; Female; Heart Valve Prosthesis; Humans; Lipids (lysosomal enzyme disorders, storage diseases); Male; Medical sciences; Metabolic diseases; Mitral Valve Stenosis - diagnostic imaging; Mitral Valve Stenosis - etiology; Mitral Valve Stenosis - pathology; Mucopolysaccharidosis VI - complications; Mucopolysaccharidosis VI - diagnostic imaging; Mucopolysaccharidosis VI - pathology; Case study; Sonography; Human; Pathology; Concomitant disease; Echocardiography; Cardiac valvular disease; Cardiovascular disease; Metabolic diseases; Mucopolysaccharidosis; Diagnosis; Electron microscopy
• ISSN: 0009-7322; 1524-4539
• DOI: 10.1161/01.CIR.85.1.188

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. 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. 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.