Fabry disease and its cardiac involvement

J Gen Fam Med. 2017 May 8;18(5):225-229. doi: 10.1002/jgf2.76. eCollection 2017 Oct.


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 multisystemic problems including neurological, ocular, skin, renal, and cardiac manifestations in classical 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 is now available for FD, correct diagnosis is important.

Keywords: cardiac hypertrophy; enzyme replacement therapy; fabry disease; hypertrophic cardiomyopathy.

Publication types

  • Review