MISC

2008年2月

Terminal stage cardiac findings in patients with cardiac Fabry disease: An electrocardiographic, echocardiographic, and autopsy study

JOURNAL OF CARDIOLOGY
  • Toshhihiro Takenaka
  • ,
  • Hiroyuki Teraguchi
  • ,
  • Aichi Yoshida
  • ,
  • Syuhei Taguchi
  • ,
  • Kenjiro Ninomiya
  • ,
  • Yoshihisa Umekita
  • ,
  • Hiroki Yoshida
  • ,
  • Michiko Horinouchi
  • ,
  • Kazuhiro Tabata
  • ,
  • Suguru Yonezawa
  • ,
  • Makoto Yoshimitsu
  • ,
  • Koji Higuchi
  • ,
  • Shoichiro Nakao
  • ,
  • Ryuichiro Anan
  • ,
  • Shinichi Minagoe
  • ,
  • Chuwa Tei

51
1
開始ページ
50
終了ページ
59
記述言語
英語
掲載種別
DOI
10.1016/j.jjcc.2007.12.001
出版者・発行元
ELSEVIER IRELAND LTD

Objectives: Fabry disease is caused by deficiency of alpha-galactosidase A, and typically causes mutti-organ dysfunction. Patients with manifestations limited to the heart, We have reported a 3% prevalence of this cardiac variant in men with LVH, which we designated 'cardiac Fabry disease'. The purposes of this study were to evaluate the terminal stage cardiac manifestations and autopsy findings in patients with cardiac Fabry disease.
Methods: We examined seven terminal stage patients with cardiac Fabry disease. During hospitalization, standard 12-lead electrocardiograms, Hotter electrocardiograms, and echocardiograms were obtained. Autopsies were performed and macroscopic along with microscopic findings were evaluated.
Results: Six patients died of heart failure and one of ventricular fibrillation. Etectrocardiograms revealed the presence of conduction abnormalities and nonsustained ventricular tachycardia. Echocardiograms and autopsy findings revealed LVH in all patients. Localized basal posterior watt thinning of the left ventricle was detected in the six patients who died of heart failure. All patients had severe left ventricular dysfunction. Histologically, myocardial cells, but not cardiac vascular endothelial cells, showed glycosphingolipid accumulation. No accumulation was observed in other organs or in systemic vascular endothelial cells.
Conclusions: Severe left ventricular dysfunction with associated conduction disturbances and ventricular arrhythmias occur in patients with terminal stage cardiac Fabry disease. Furthermore, LVH is present and associated with thinning of the base of the left ventricular posterior watt. In contrast to typical Fabry disease, accumulation of glycosphingolipids was observed in myocardial cells but not in other organs. (c) 2008 Japanese College of Cardiology. Published by Elsevier Ireland Ltd. All rights reserved.

Web of Science ® 被引用回数 : 86

リンク情報
DOI
https://doi.org/10.1016/j.jjcc.2007.12.001
CiNii Articles
http://ci.nii.ac.jp/naid/10024019045
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/18522775
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000258198700006&DestApp=WOS_CPL

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