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Revista Colombiana de Cardiología
versão impressa ISSN 0120-5633
Resumo
HOYOS, Diego H. et al. An adult patient with heart abnormalities secondary to Fabry disease. Rev. Colomb. Cardiol. [online]. 2022, vol.29, suppl.4, pp.11-19. Epub 20-Dez-2022. ISSN 0120-5633. https://doi.org/10.24875/rccar.m22000199.
Introduction:
Fabrys disease is a chronic, progressive and a multisystemic disease of genetic origin, with a recessive pattern of inheritance tied to the X chromosome, characterized by the lisosomal deposit of globotriaosylceramide as a consequence of a deficiency in the activity of the alpha-galactosidase A enzyme.
Clinical case:
We present a clinical case of a 53-year old male patient carrying this disease with family history of Fabrys disease, who suffers cardiac compromise as the main clinical manifestation. He is a patient who required the implantation of a permanent pacemaker and enzyme replacement therapy.
Conclusions:
Fabry´s disease is a systemic and progressive disease, low fre-quency, and not well known by the health personnel, which implies a late diagnosis, being the cardiac compromise the second in frequency after renal compromise, which can lead to the patient to a hypertrophic cardiomyopathy and a rhythm and cardiac conduction disorder.
Palavras-chave : Fabry disease; Hypertrophic myocardiopathy; Enzyme replacement therapy.