Year: 2025
Type: article
Study design: Case Report
Abstract: Introduction Gaucher disease (GD) is part of the rare inherited metabolic disorder, being one of the most common lysosomal storage disorders. It is caused by a deficiency in B-glucocerebrosidase enzyme activity, which leads to the accumulation of glucosylceramide in macrophages. It is classified into three types depending on the presence of neurological manifestations: type 1 without neurological signs, type 2 with acute neurological manifestations, and type 3 with subacute/chronic neurological symptoms. It is uncommon, but cardiac involvement in the form of structural calcifications may be present in type 3. Case We present the case of a 20-year-old male patient diagnosed with severe mitro-aortic lesions. During surgery, massive mitral calcification and a small aortic annulus forced us to perform a Root-Commando operation with mechanical prostheses. The patient was diagnosed with type 3C Gaucher disease, and enzyme replacement therapy was started. Conclusion Our manuscript presents a rare case of cardiac affection of type 3C Gaucher disease. Early start of enzyme replacement therapy ensures a better outcome.
Source: Journal of Rare Diseases
Institutions: Hospital Clínic de Barcelona, Universitat de Barcelona
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4416210610