Klinefelter Syndrome with Fabry Disease - a Case of Nondisjunction of the X-chromosome with Sex-linked Recessive Mutation

被引：3

作者：

Sadick, Victoria J. ^{[1
]}

Fietz, Michael J. ^{[2
]}

Tchan, Michel C. ^{[3
,4
]}

Kovoor, Pramesh ^{[5
]}

Thomas, Liza ^{[6
,7
]}

Sadick, Norman ^{[5
,8
,9
]}

机构：

[1] Univ Western Australia, Fac Med Dent & Hlth Sci, Perth, WA 6009, Australia

[2] Womens & Childrens Hosp, Dept Chem Pathol, Adelaide, SA, Australia

[3] Westmead Hosp, Dept Med Genet, Westmead, NSW 2145, Australia

[4] Univ Sydney, Western Clin Sch, Sydney, NSW 2006, Australia

[5] Westmead Hosp, Dept Cardiol, Westmead, NSW 2145, Australia

[6] Liverpool Hosp, Dept Cardiol, Liverpool, Merseyside, England

[7] UNSW, South Western Sydney Clin Sch, Sydney, NSW, Australia

[8] Blacktown Hosp, Dept Cardiol, Blacktown, NSW, Australia

[9] Univ Western Sydney, Penrith, NSW 1797, Australia

来源：

HEART LUNG AND CIRCULATION | 2014年 / 23卷 / 12期

关键词：

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

D O I：

10.1016/j.hlc.2014.07.056

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：1149 / 1152

页数：4

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