Cardiac Anderson-Fabry disease: lessons from a 25-year-follow up

Abstract

Sarcomeric hypertrophic cardiomyopathy (HCM) is the most common genetic cause of unexplained left ventricular hypertrophy and has no specific treatment. Anderson-Fabry disease (AFD) is rare and usually multisystemic, but occasionally expresses clinically as a predominantly cardiac phenotype mimicking HCM. We describe an illustrative case of a patient followed regularly for 25 years with a diagnosis of familial HCM and no identified sarcomeric mutations. Next-generation sequencing analysis identified a novel pathogenic mutation in the GLA gene, leading to a diagnosis of previously unknown multisystemic AFD, with consequent implications for the patient's treatment and prognosis and familial screening.

Keywords: Anderson-Fabry disease; Doença de Anderson-Fabry; Hypertrophic cardiomyopathy; Miocardiopatia hipertrófica; Next-generation sequencing; Sequenciação de nova geração.