Early diagnosis of cardiac involvement in Anderson-Fabry disease using cardiac MRI parameters.

Abstract

Anderson-Fabry disease (AFD) is a rare, X-linked, lysosomal storage disorder caused by the absence or deficiency of alpha-galactosidase A activity, leading to the progressive accumulation of sphingolipids in multiple organ systems, including the heart. Cardiac involvement accounts for > 50% of AFD-related mortality and is a primary determinant of disease prognosis. AFD cardiomyopathy is heterogenous with key features that include left ventricular hypertrophy, conduction disturbances, myocardial fibrosis and valvular disease. Early diagnosis and treatment are crucial to prevent progressive and irreversible myocardial damage. Electrocardiography and echocardiography are effective and inexpensive first-line modalities to detect abnormalities that suggest cardiac involvement in patients with AFD. However, cardiovascular magnetic resonance imaging (CMR) can provide a more comprehensive assessment of myocardial tissue characteristics and cardiac structure and function. Recent studies have strengthened the role of T1 mapping, myocardial strain and late gadolinium enhancement using CMR in the assessment of patients with AFD. Whilst CMR is less widely available than electrocardiography and echocardiography, it has the potential to improve the diagnosis, monitoring and prognostication of patients with AFD. In the future, advanced CMR techniques may further refine risk stratification, guide therapeutic decisions and facilitate earlier interventions that can ultimately improve patient outcomes.