Treatment of hypertrophic cardiomyopathy caused by cardiospecific variants of Fabry disease with chaperone therapy

Abstract

A 52-year-old male patient diagnosed for hypertrophic cardiomyopathy was admitted to our clinic in October 2015 for unusual rapid worsening of heart failure symptoms. The electrocardiogram showed negative T-waves in inferior leads and a positive Sokolow index for left ventricular (LV) hypertrophy (Panel A). Echocardiography confirmed non-obstructive LV hypertrophy (Panel B). Cardiac serum biomarkers showed troponin and N-terminal pro-brain natriuretic peptide (NT-ProBNP) levels of 49.1 and 365 pg/mL. Cardiac magnetic resonance imaging revealed diffuse late gadolinium enhancement (LGE) in the posterolateral wall (Panels C and F). Genetic analysis excluded sarcomeric hypertrophic cardiomyopathy but revealed the mutation N215S in the alpha-galactosidase A gene, one of the most prevalent Fabry mutations in Europe and recently described for a specific cardiac form of the disease. Heart failure medication was started, but enzyme replacement therapy refused by the patient. Due to further disease progression at 10 months follow-up regarding symptoms, further