Klinefelter syndrome with fabry disease--a case of nondisjunction of the X-chromosome with sex-linked recessive mutation

Victoria J Sadick; Michael J Fietz; Michel C Tchan; Pramesh Kovoor; Liza Thomas; Norman Sadick

doi:10.1016/j.hlc.2014.07.056

Klinefelter syndrome with fabry disease--a case of nondisjunction of the X-chromosome with sex-linked recessive mutation

Heart Lung Circ. 2014 Dec;23(12):1149-52. doi: 10.1016/j.hlc.2014.07.056. Epub 2014 Jul 16.

Authors

Victoria J Sadick¹, Michael J Fietz², Michel C Tchan³, Pramesh Kovoor⁴, Liza Thomas⁵, Norman Sadick⁶

Affiliations

¹ Faculty of Medicine, Dentistry and Health Science, University of Western Australia, Perth, Australia.
² Department of Chemical Pathology, Women's and Children's Hospital, North Adelaide, SA, Australia.
³ Department of Genetic Medicine, Westmead Hospital, and Western Clinical School, University of Sydney, NSW, Australia.
⁴ Department of Cardiology, Westmead Hospital, Westmead NSW, Australia.
⁵ Department of Cardiology Liverpool Hospital, Liverpool and UNSW, South Western Sydney Clinical School, NSW, Australia.
⁶ Department of Cardiology, Westmead Hospital, Westmead NSW, Australia; Department of Cardiology, Blacktown Hospital and University of Western Sydney, NSW, Australia. Electronic address: [email protected].

PMID: 25086909
DOI: 10.1016/j.hlc.2014.07.056

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.

Keywords: Cardiomyopathy; Fabry disease; Homozygous sex-linked recessive mutation.; Klinefelter syndrome; Nondisjunction of the X-chromosome.

Copyright © 2014 Australian and New Zealand Society of Cardiac and Thoracic Surgeons (ANZSCTS) and the Cardiac Society of Australia and New Zealand (CSANZ). Published by Elsevier B.V. All rights reserved.

Publication types

Case Reports

MeSH terms

Chromosomes, Human, X / genetics*
Fabry Disease / genetics*
Fabry Disease / pathology
Genes, Recessive*
Genes, X-Linked*
Humans
Klinefelter Syndrome / genetics*
Klinefelter Syndrome / pathology
Male
Middle Aged
Mutation*

Supplementary concepts

Fabry Disease, Cardiac Variant