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

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

Research output: Contribution to journal › Article › peer-review

3 Citations (Scopus)

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.

Original language	English
Pages (from-to)	1149-1152
Number of pages	4
Journal	Heart, Lung and Circulation
Volume	23
Issue number	12
DOIs	https://doi.org/10.1016/j.hlc.2014.07.056
Publication status	Published - 2014

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

cardiomyopathy
chromosome
recessive

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10.1016/j.hlc.2014.07.056

Cite this

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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.",

keywords = "cardiomyopathy, chromosome, recessive",

author = "Sadick, \{Victoria J.\} and Fietz, \{Michael J.\} and Tchan, \{Michel C.\} and Pramesh Kovoor and Liza Thomas and Norman Sadick",

year = "2014",

doi = "10.1016/j.hlc.2014.07.056",

language = "English",

volume = "23",

pages = "1149--1152",

journal = "Heart, Lung and Circulation",

issn = "1443-9506",

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TY - JOUR

T1 - Klinefelter syndrome with fabry disease - a case of nondisjunction of the x-chromosome with sex-linked recessive mutation

AU - Sadick, Victoria J.

AU - Fietz, Michael J.

AU - Tchan, Michel C.

AU - Kovoor, Pramesh

AU - Thomas, Liza

AU - Sadick, Norman

PY - 2014

Y1 - 2014

N2 - 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.

AB - 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.

KW - cardiomyopathy

KW - chromosome

KW - recessive

UR - http://hdl.handle.net/1959.7/uws:28599

U2 - 10.1016/j.hlc.2014.07.056

DO - 10.1016/j.hlc.2014.07.056

M3 - Article

SN - 1443-9506

VL - 23

SP - 1149

EP - 1152

JO - Heart, Lung and Circulation

JF - Heart, Lung and Circulation

IS - 12

ER -

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

Abstract

UN SDGs

Keywords

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