Details

Autor(en) / Beteiligte

• Coy-Canguçu, Andréa
• Martins, Camila Nicolela Geraldo
• Bau, Adriana Aparecida
• Uellendahl, Marly
• Coelho-Filho, Otavio Rizzi

Titel

Cardiac Magnetic Resonance Imaging in Fabry Disease

Ist Teil von

• Amyloidosis and Fabry Disease, p.387-400

Ort / Verlag

Cham: Springer International Publishing

Link zum Volltext

Quelle

Alma/SFX Local Collection

Beschreibungen/Notizen

• Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants in the galactosidase alpha gene, leading to deficient or undetectable α-galactosidase A enzyme activity and a progressive accumulation of glycosphingolipids within lysosomes. Diagnosing FD represents a challenging task due to its multisystemic involvement, relatively rare clinical prevalence, and similarities to other left ventricle hypertrophy etiologies. However, as a potentially reversible disorder, it is essential that early FD diagnosis be established to start enzyme replacement therapy, the treatment of choice to avoid disease-related complications, as soon as possible. In this setting, cardiovascular magnetic resonance has become an increasingly employed imaging modality in FD due to its ability to assess cardiac changes throughout all stages of the disease—particularly those related to myocardial glycosphingolipid accumulation, edema, and interstitial fibrosis—using native T1 mapping, quantification of extracellular volume, and assessment of late gadolinium enhancement. This chapter aims to address the potential challenges in the diagnosis of FD, emphasizing the importance of cardiovascular magnetic resonance for diagnostic accuracy, disease management, and therapy monitoring.