About the Journal | Editorial Board | Instructions to Contributors | Submission & Review | Advertise with Us | Subscribe to E- Alerts
Sitemap | Feedback
Advanced search
Journal of Case Reports
Severe Mitral Stenosis in Mucopolysaccharidosis
CL Anusha, Palanki Surya Satya Gopal
Department of Cardiothoracic Surgery, Nizam’s Institute of Medical Sciences, Hyderabad, Telangana, India.
Corresponding Author:
Dr CL Anusha
Email: lucky741992@gmail.com
Received: 04-MAR-2025 Accepted: 22-JUL-2025 Published Online: 25-SEP-2025
DOI: http://dx.doi.org/10.17659/01.2025.0019
Abstract
Background: Mucopolysaccharidoses syndromes are inherited errors of metabolism that are characterized by an increase in tissue glycosaminoglycan concentration. Cardiac involvement has been reported in all MPS syndromes and is a common and early feature in MPS I, II, and VI. Cardiac valve thickening, dysfunction, and hypertrophy are common. Case report: We report the case of a 12-year-old female who complained of dyspnea on exertion persisting for two months associated with pedal edema with morphological and skeletal abnormality. 2D echo suggested severe mitral stenosis. Patient underwent mitral valve replacement. Post-operative period was uneventful and patient was discharged with stable hemodynamics. Conclusion: Although cardiac involvement in MPS is not uncommon, only few case reports of successful cardiac surgeries have been reported. We describe a case of successful mitral valve replacement in a patient with mucopolysaccharidosis.
Keywords : Glycosaminoglycan, Hypertrophy, Mitral Valve Stenosis, Mucopolysaccharidoses, Thoracic Surgery.
Article Options
FULL TEXT
ABSTRACT
PDF
PRINTER FRIENDLY VERSION
Search PubMed for
Search Google Scholar for
Article Statistics
Bookmark and Share