Fabry disease: A fundamental genetic modifier of cardiac function.
Fabry disease (FD) is an inherited X-linked metabolic storage disorder triggered by abnormalities in the GLA gene at Xq22, which leads to a deficiency in α-galactosidase A and massive accumulation of intralysosomal glycosphingolipids. Cardiac complications are very common in FD and are the main cause of late morbidity, as well as early mortality in both hemizygous men and heterozygous women. There is a need for a multidisciplinary approach to evaluation and management of FD patients as there is a wide range of presentation of FD, which varies with mutation and other organ involvement/dysfunction. An overview of common cardiac involvement and clinical characteristics in FD including: left ventricular hypertrophy (LVH), conduction abnormalities and arrhythmias, coronary artery disease and valvular infiltrative myopathy are provided in this review. Current therapeutic approaches such as enzyme replacement therapy as well as the emergence of novel therapeutic options such as gene therapy to optimize disease outcomes in FD patients will be highlighted in this paper.
Département de Biochimie, Centre Hospitalier de l'Université de Montréal, Hôpital Saint-Luc, 1058, rue Saint-Denis, H2X 3J4 Montréal, Québec, Canada; Département de Biochimie et Médecine Moléculaire, Université de Montréal, PO Box 6128, Station Centre-ville, H3C 3J7, Montréal, Québec, Canada. Electronic address: artavazd.tadevosyan.chum@ssss.gouv.qc.ca.
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Tadevosyan
D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000150:complications* / Q000235:genetics*; D060045:Genes, Modifier / Q000502:physiology*; D006331:Heart Diseases / Q000235:genetics*; D006801:Humans; D009154:Mutation; D000519:alpha-Galactosidase / Q000235:genetics / Q000627:therapeutic use
D000519:alpha-Galactosidase
Enzyme replacement therapy; Fabry cardiomyopathy; Fabry disease; X-linked disorder