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The heart in Anderson-Fabry disease and other lysosomal storage disorders
  1. Aleš Linhart1,
  2. Perry M Elliott2
  1. 11st School of Medicine, Charles University, Prague, Czech Republic
  2. 2The Heart Hospital, University College London, UK
  1. Correspondence to:
    Dr Perry Elliott
    The Heart Hospital, 16–18 Westmoreland Street, London, W1G 8PH, UK; pelliott{at}

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Lysosomal storage disorders (LSD) comprise a group of more than 40 diseases caused by a deficiency of lysosomal enzymes, membrane transporters or other proteins involved in lysosomal biology. The predominant inheritance pattern is autosomal recessive except for Anderson-Fabry disease, glycogen storage disease (GSD) type IIb (Danon disease) and mucopolysaccharidosis (MPS) type II (Hunter disease). While the metabolic defects affect all cells, clinical organ involvement usually occurs only in the presence of substrate excess or metabolic pathway activation. Cardiac disease is particularly important in lysosomal glycogen storage diseases (Pompe and Danon disease), mucopolysaccharidoses and in glycosphingolipidoses (Anderson-Fabry disease). Various disease manifestations may be observed including hypertrophic and dilated cardiomyopathy, coronary artery disease and valvular disease (table 1).

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Table 1

 Lysosomal storage disease causing cardiac disease


Anderson-Fabry disease (AFD, synonyms Fabry disease, α-galactosidase A deficiency, angiokeratoma corporis diffusum) is an X-linked LSD caused by mutations in the gene encoding the lysosomal enzyme α-galactosidase A. The resultant deficiency in α-galactosidase A activity leads to intra-lysosomal accumulation of neutral glycosphingolipids, mainly globotriaosylceramide (Gb3), in various organ systems. The disease is characterised by progressive clinical manifestations and premature death from renal failure, stroke and cardiac disease.1


The incidence of AFD has been estimated at 1 in 40 000 to 1 in 117 000 live births for males.1 Recently, studies in high risk patient cohorts suggest that it is much more common. The reported prevalence of AFD in patients with end-stage renal disease on haemodialysis ranges between 0.2–1.2%; in patients with cryptogenic stroke the prevalence may be as high as 4.9% in men and 2.8% in women. The prevalence of AFD in patients with heart disease varies depending on the population studied. In a survey of male patients with unexplained left ventricular hypertrophy (LVH) attending an echocardiography clinic, 3% had biochemical evidence for AFD2

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  • In compliance with EBAC/EACCME guidelines, all authors participating in Education in Heart have disclosed potential conflicts of interest that might cause a bias in the article. Competing interest statement: Dr Elliott and Dr Linhart have received speaker and consultancy fees from TKT Inc (Shire Human Genetics Therapies) and Genzyme Inc. Dr Elliott is in receipt of an unrestricted educational grant from Shire Human Genetics Therapies. Neither author has any other financial conflict of interest to declare.