Cardiac Anderson-Fabry disease: lessons from a 25-year-follow up.
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.
Cardiology Department, Hospital Universitario de Santa Maria, Lisbon, Portugal; Lisbon Academic Medical Centre/Cardiovascular Centre of the University of Lisbon, Portugal.
Dulce
D
Brito
Instituto de Medicina Molecular, Faculty of Medicine, Lisbon, Portugal. Electronic address: gmiltenyi@fm.ul.pt.
Gabriel
G
Miltenberger-Miltenyi
Clinical Genetics Department, Hospital Universitario de Santa Maria, Lisbon, Portugal.
Oana
O
Moldovan
Department of Pathology & Neuropathology, Institute of Biomedical Research of Vigo (IBIV), University Hospital of Vigo (CHUVI), Spain.
Carmen
C
Navarro
Lisbon Academic Medical Centre/Cardiovascular Centre of the University of Lisbon, Portugal.
Hugo Costa
HC
Madeira
D000328:Adult; D000795:Fabry Disease / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006331:Heart Diseases / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D009154:Mutation; D010375:Pedigree; D013997:Time Factors
Anderson-Fabry disease; Doença de Anderson-Fabry; Hypertrophic cardiomyopathy; Miocardiopatia hipertrófica; Next-generation sequencing; Sequenciação de nova geração