Diagnosis of cardiovascular involvement in Fabry disease

Abstract

Fabry disease is a rare X-linked genetic disorder, caused by partial or total loss of function of the lysosomal enzyme α-galactosidase A that induces glycosphingolipid accumulation in various organs and tissues, modifying their structure and function. Cardiovascular involvement in classic and late onset forms has emerged to be a major determinant of prognosis. In recent years, a constant evolution in imaging techniques and their mindful application has led to interesting results in the diagnostic workup, progressively reducing time required to recognize early signs of this disease. Owing to the growing awareness for diagnostic screening and the efficacy of the many therapeutic options currently available, the clinical history of Fabry patients has changed during the last decades. Therefore, an early diagnosis of Fabry disease and especially of cardiac involvement is essential to promptly adopt an adequate therapy.