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Patients with genetic cardiomyopathies experience high morbidity and mortality. These patients require prompt cardiac assessments and early interventions to prevent progression to advanced heart failure. Plasma biomarkers, such as B-type natriuretic peptide (BNP), N-terminal prohormone of brain natriuretic peptide (NT-proBNP), and high-sensitive troponin T (hsTropT) may be able to prognosticate major adverse cardiac events (MACE) in this group of patients.
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Fabry Disease (FD) is a systemic X-linked lysosomal storage disorder that can result in renal, cardiovascular, and neurovascular disease due to glycosphingolipid globotriaosylceramide (Gb3) accumulation in the endothelium of various organs. As a result, patients with FD have significantly reduced life expectancy with cardiac disease noted as being the primary cause of death in these patients.
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