Interv Akut Kardiol. 2018;17(3):153-157 | DOI: 10.36290/kar.2018.052

Fabry disease and its cardiac involvement

Lenka Roblová

II. interní klinika – klinika kardiologie a angiologie Všeobecné fakultní nemocnice

a 1. lékařské fakulty Univerzity Karlovy, Praha

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

Keywords: left ventricular hypertrophy, hypertrophic cardiomyopathy, enzyme replacement therapy, Fabry disease

Published: October 1, 2018  Show citation