Diagnosis and Management of Cardiovascular Involvement in Fabry Disease

Fabry disease (FD, OMIM 301500) is an X-linked lysosomal storage disease caused by pathogenic variants in the GLA gene. Cardiac involvement is common in FD and is responsible for impaired quality of life and premature death. The classic cardiac involvement is a nonobstructive form of hypertrophic cardiomyopathy, usually manifesting as concentric left ventricular hypertrophy, with subsequent arrhythmogenic intramural fibrosis. Treatment of patients with FD should be directed to prevent the disease progression to irreversible organ damage and organ failure. The aim of this review is to describe the current state of knowledge regarding cardiovascular involvement in FD, focusing on clinical and instrumental features, cardiovascular management, and targeted therapy.

Source: Heart Failure Clinics - October 25, 2021 Category: Cardiology Authors: Marta Rubino, Emanuele Monda, Michele Lioncino, Martina Caiazza, Giuseppe Palmiero, Francesca Dongiglio, Adelaide Fusco, Annapaola Cirillo, Arturo Cesaro, Laura Capodicasa, Marialuisa Mazzella, Flavia Chiosi, Paolo Orabona, Eduardo Bossone, Paolo Calabr à Source Type: research