title: Klinefelter syndrome with fabry disease--a case of nondisjunction of the X-chromosome with sex-linked recessive mutation.
abstract: A 52 year-old male with Klinefelter syndrome presented with chest tightness and rapid atrial fibrillation with hypotension. His echocardiogram demonstrated symmetrical left ventricular hypertrophy with minimal diastolic dysfunction. Subsequent investigations confirmed the diagnosis of Fabry cardiomyopathy. This is the first reported case of Klinefelter syndrome with homozygous sex-linked recessive mutation presenting primarily with cardiac manifestation.
authors.affiliation: Faculty of Medicine, Dentistry and Health Science, University of Western Australia, Perth, Australia.
authors.forename: Victoria J
authors.initials: VJ
authors.lastname: Sadick
authors.affiliation: Department of Chemical Pathology, Women's and Children's Hospital, North Adelaide, SA, Australia.
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Fietz
authors.affiliation: Department of Genetic Medicine, Westmead Hospital, and Western Clinical School, University of Sydney, NSW, Australia.
authors.forename: Michel C
authors.initials: MC
authors.lastname: Tchan
authors.affiliation: Department of Cardiology, Westmead Hospital, Westmead NSW, Australia.
authors.forename: Pramesh
authors.initials: P
authors.lastname: Kovoor
authors.affiliation: Department of Cardiology Liverpool Hospital, Liverpool and UNSW, South Western Sydney Clinical School, NSW, Australia.
authors.forename: Liza
authors.initials: L
authors.lastname: Thomas
authors.affiliation: Department of Cardiology, Westmead Hospital, Westmead NSW, Australia; Department of Cardiology, Blacktown Hospital and University of Western Sydney, NSW, Australia. Electronic address: normansadick@gmail.com.
authors.forename: Norman
authors.initials: N
authors.lastname: Sadick
mesh_terms: D041321:Chromosomes, Human, X / Q000235:genetics*; D000795:Fabry Disease / Q000235:genetics* / Q000473:pathology; D005808:Genes, Recessive; D050172:Genes, X-Linked; D006801:Humans; D007713:Klinefelter Syndrome / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation
keywords: Cardiomyopathy; Fabry disease; Homozygous sex-linked recessive mutation.; Klinefelter syndrome; Nondisjunction of the X-chromosome