Clinical Conundrum: Unveiling a Rare Case of Morquio Syndrome with Rheumatic Heart Disease

A genetic lysosomal storage condition called Mucopolysaccharidosis (MPS) causes a variety of enzyme deficits that result in the build-up of specific glycosaminoglycans in the tissues. These deposits impact several systems, resulting in chronic morbidity, and create a variety of physical abnormalities that give characteristic looks and findings. This is a case study of a male patient who was diagnosed with Rheumatic Heart Disease (RHD) after presenting with cardiac problems. After testing and research, he was found to have Type 4, a very uncommon form of MPS, often known as Morquio syndrome. The child underwent surgical correction for mitral regurgitation, specifically mitral valve replacement This case highlights the need for increased margin of suspicion for RHD in a child with mucopolysaccharidoses and takes timely corrective measures. Morquio syndrome is a type 4 MPS with characteristic features and has multisystemic involvement. Although cardiovascular system inolvement is one of the known involvements in the disease spectrum, the presence of RHD in a child with Morquio is not a frequent occurrence. This case highlights the need to consider and thoroughly examine a child with MPS for cardiac involvement and take necessary corrections in a timely fashion.