Fig. 1

Echocardiograms from the two patients presented. Panel a, parasternal images from the asymptomatic daughter. The interventricular septum measured 15 mm (reference < 11 mm). Panel b, the echocardiogram from the mother aged 81 years. The scan demonstrates a dilated left ventricle (LVIDd 46 mm/m², reference < 32 mm/m²) and severe systolic heart failure (left ventricular ejection fraction estimated to 15%). Panel c, cardiac magnetic resonance imaging of the daughter. The cardiac magnetic resonance scan demonstrated preserved systolic function and mild left ventricular hypertrophy (143 g/m², normal range 69–141 g/m²). The cardiac magnetic resonance also demonstrated late gadolinium hyperenhancement in inferolateral left ventricular myocardial segments, that is, in a pattern highly suspicious of a cardiac phenotype with Fabry’s disease