Multi-Modality Cardiovascular Imaging Assessment in Fabry Disease

نویسندگان

چکیده

Fabry disease (FD) is a rare X-linked lysosomal storage disorder manifesting as progressive multi-organ accumulation of sphingolipids due to deficiency in the enzyme α-Galactosidase A. Sphingolipid can take place all cardiac cell types which manifests left ventricular hypertrophy, microvascular ischaemia, conduction abnormalities, arrhythmia, heart failure, and valvular disease. The use advanced cardiovascular imaging techniques have enabled clinicians stage prognosticate guide therapy. Transthoracic echocardiography (TTE) magnetic resonance (CMR) conjunction are hallmark modalities allow for this assessment. Traditionally, assessment involvement FD was based on maximal wall thickness (MWT) development hypertrophy (LVH). It now understood that sphingolipid takes before LVH. Advances within TTE CMR, particularly strain T1/T2 mapping, meant cardiomyopathy (FCM) be diagnosed earlier process. This potentially provides window initiation replacement therapy (ERT) at where it likely most beneficial effect reducing high mortality associated with FCM. review outlines advances multimodality staging prognosticating FCM, well applications assessing symptoms complications

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ژورنال

عنوان ژورنال: Applied sciences

سال: 2022

ISSN: ['2076-3417']

DOI: https://doi.org/10.3390/app12031605