Histopathological evidence of Fabry disease in a female patient with left ventricular noncompaction

• Tipo: Artigo em Revista Científica Internacional
• Data: 2014

Autores

Martins, E (Autor) FMUP; Pinho, T (Autor) Outra; Carpenter, S (Autor) Outra; Leite, S (Autor) Outra; Garcia, R (Autor) Outra; Madureira, A (Autor) Outra; João Paulo Oliveira (Autor) FMUP

Revista

Título: Revista Portuguesa de Cardiologia

Vol. 33

ISSN: 0870-2551

Editora: Sociedade Portuguesa De Cardiologia

Indexação

Scopus - 13 Citações

Outras Informações

ID Authenticus: P-00F-ZN7

DOI: 10.1016/j.repc.2014.02.021

Abstract (EN): 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.

Idioma: Inglês

Tipo (Avaliação Docente): Científica