Cardiovascular disorders in a patient with Fabry disease: A serious prognostic factor

Fabry disease (FD) is an inherited rare metabolic disease caused by a mutation in the GLA gene, encoding the lysosomal enzyme alpha-galactosidase A. The disorder is a systemic disease that manifests as cerebrovascular and cardiac disease, chronic renal failure, skin lesions, peripheral neuropathy, and other abnormalities. Arrhythmias, cardiac conduction disorders, and sudden deaths in Fabry diseases represent the main prognostic factors and are usually hard to manage. We describe here the case of a 56-year-old woman followed for Fabry disease with conductive and rhythmic cardiac involvement. Our case illustrates the pivotal role of critical clinical thinking in the management of rare but treatable hereditary cardiomyopathy like Fabry disease.