Cardiac manifestations of Fabry disease: are women getting enough attention?

Identification of a cardiomyopathy phenotype should prompt a systematic search for the underlying aetiology, which may be genetic or acquired and can be associated with extracardiac manifestations. Fabry Disease (FD) is an inherited metabolic disorder causing left ventricular hypertrophy along with multiples other cardiac symptoms. Due to its X-linked transmission, FD was long thought to only affect men, although women are also involved but with a different spectrum of presentations, with less important symptoms that tend to appear later or with atypical phenotype.