title: Histopathological evidence of Fabry disease in a female patient with left ventricular noncompaction.
abstract: Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the alpha-galactosidase gene. The most frequent cardiac presentation of Fabry disease is cardiomyopathy characterized by left ventricular (LV) hypertrophy, usually concentric. Heart disease in affected females tends to be clinically recognized later than in males and cardiac complications are the most frequently reported cause of death in females with Fabry disease. There are few data regarding the association between Fabry disease and LV noncompaction. We report a case of a 30-year-old asymptomatic woman, heterozygous for a nonsense alpha-galactosidase gene mutation (p.R220X), who presented LV noncompaction on cardiac magnetic resonance imaging, without LV wall hypertrophy. Histopathological examination of myocardial fragments showed marked deposition of glycosphingolipids in cardiomyocytes, confirming the diagnosis of Fabry cardiomyopathy. Based on this finding, the patient was proposed for enzyme replacement therapy. This case illustrates the role of endomyocardial biopsy in the clarification of doubtful or atypical findings related to cardiac Fabry disease, even in heterozygous women, and corroborates the contention that Fabry disease should be included in the differential diagnosis of LV hypertrabeculation/noncompaction.
authors.affiliation: Medical School of Porto, Department of Medicine, São João University Hospital, Porto, Portugal. Electronic address: elismartins@med.up.pt.
authors.forename: Elisabete
authors.initials: E
authors.lastname: Martins
authors.affiliation: Cardiology Department, São João University Hospital, Porto, Portugal.
authors.forename: Teresa
authors.initials: T
authors.lastname: Pinho
authors.affiliation: Pathology Department, São João University Hospital, Porto, Portugal.
authors.forename: Stirling
authors.initials: S
authors.lastname: Carpenter
authors.affiliation: Cardiology Department, São João University Hospital, Porto, Portugal.
authors.forename: Sérgio
authors.initials: S
authors.lastname: Leite
authors.affiliation: Cardiology Department, São João University Hospital, Porto, Portugal.
authors.forename: Raquel
authors.initials: R
authors.lastname: Garcia
authors.affiliation: Radiology Department, São João University Hospital, Porto, Portugal.
authors.forename: António
authors.initials: A
authors.lastname: Madureira
authors.affiliation: Medical School of Porto, Genetics Department, São João University Hospital, Porto, Portugal.
authors.forename: João Paulo
authors.initials: JP
authors.lastname: Oliveira
mesh_terms: D000328:Adult; D018389:Codon, Nonsense; D000795:Fabry Disease / Q000473:pathology*; D005260:Female; D006801:Humans; D056830:Isolated Noncompaction of the Ventricular Myocardium / Q000473:pathology*; D000519:alpha-Galactosidase / Q000235:genetics
chemical_list: D018389:Codon, Nonsense; D000519:alpha-Galactosidase
keywords: Biópsia endomiocárdica; Doença de Fabry; Endomyocardial biopsy; Fabry disease; Hipertrabeculação/não compactação; Hypertrabeculation/noncompaction