Fabry disease and its cardiac involvement

Abstract

Fabry disease (FD) is an X-linked lysosomal storage disorder that results from a deficiency of α-galactosidase A activity. This enzymatic defect leads to the progressive accumulation of glycosphingolipids throughout the body and causes multiple systemic problems including neurological, ocular, cutaneous, renal, and cardiac manifestations in the classic type of FD. The majority of patients with this disease have cardiac involvement that is mainly manifested as left ventricular hypertrophy (LVH). A cardiac variant of FD with late-onset isolated cardiac manifestation has also been recognized. Recent studies have revealed that the prevalence of FD in patients with unexplained LVH is about 1 %. Cardiac involvement of FD is associated with significant morbidity and early death due to heart failure or ventricular arrhythmias. As disease-specific enzyme replacement therapy has now become available for FD, a correct diagnosis is essential.