Abstract
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 accumulation can take place in all cardiac cell types which manifests as left ventricular hypertrophy, microvascular ischaemia, conduction abnormalities, arrhythmia, heart failure, and valvular disease. The use of advanced cardiovascular imaging techniques have enabled clinicians to stage and prognosticate the disease and guide therapy. Transthoracic echocardiography (TTE) and cardiac magnetic resonance imaging (CMR) in conjunction are the hallmark imaging modalities to allow for this assessment. Traditionally, the assessment of cardiac involvement in FD was based on the assessment of maximal wall thickness (MWT) and the development of left ventricular hypertrophy (LVH). It is now understood that sphingolipid accumulation takes place before the development of LVH. Advances in techniques within TTE and CMR, particularly that of strain assessment and T1/T2 mapping, have meant that Fabry cardiomyopathy (FCM) can be diagnosed earlier in the disease process. This potentially provides a window for initiation of enzyme replacement therapy (ERT) at a stage where it is likely to have the most beneficial effect in reducing the high mortality associated with FCM. This review outlines the advances in multimodality imaging in staging and prognosticating FCM, as well as the applications of cardiac imaging in assessing symptoms and complications of FCM.
Highlights
Fabry disease (FD) is an X-linked lysosomal storage disorder, which manifests as a deficiency in the enzyme α-Galactosidase A [1]
Transthoracic echocardiography (TTE) is a readily available and accessible imaging modality that is widely used for screening, assessment, and monitoring of cardiac involvement in FD by determining systolic and diastolic function, left ventricular (LV) mass, LV wall thickness (LVWT), presence of left ventricular outflow tract obstruction (LVOTO), and the presence of valvular heart disease [4]
Diagnosis of cardiac phenotype in FD has hitherto been based primarily on measurement of maximal wall thickness (MWT) and development of left ventricular hypertrophy (LVH), it is understood that sphingolipid deposition precedes the development of hypertrophy and is a continuous process that results in insidious progression of organ involvement over time
Summary
Fabry disease (FD) is an X-linked lysosomal storage disorder, which manifests as a deficiency in the enzyme α-Galactosidase A [1]. This leads to progressive and multiorgan accumulation of sphingolipids, globotriasylceramide (Gb3) and lysoglobotriasylceramide (lyso-Gb3) [2]. Over time, this results in end-organ damage with predominant cardiac, renal, and cerebrovascular manifestations that cause significant morbidity and premature mortality [3]. Fabry disease is rare, it serves as a paradigm for the application of modern cardiovascular imaging techniques in diagnosis, guiding therapy and determining prognosis. The aim of this article is to outline the advantages of state-of-the-art imaging in the staging, management, and prognosticating of patients with FD
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