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Echocardiography in Fabry disease: diagnostic value of endocardial border binary appearance

Juha W Koskenvuo1, Erik Engblom, Ilkka M Kantola

  • 1Department of Clinical Physiology, Nuclear Medicine and PET Centre, Turku University Hospital, Turku, Finland. juhkos@utu.fi

Clinical Physiology and Functional Imaging
|March 27, 2009
PubMed

Insights

The binary appearance of the endocardium on echocardiography is not a reliable method for screening Fabry disease. This diagnostic sign showed low sensitivity and specificity in distinguishing Fabry disease from other conditions.

Area of Science:

  • Cardiology
  • Medical Imaging
  • Genetics

Background:

  • Fabry disease is a rare genetic disorder affecting the heart.
  • The endocardium's binary appearance on echocardiography has been proposed as a screening tool for Fabry disease.
  • This sign was suggested to differentiate Fabry disease from hypertrophic cardiomyopathy.

Purpose of the Study:

  • To evaluate the accuracy of the endocardial binary appearance on echocardiography for screening Fabry disease.
  • To assess the utility of this sign in differentiating Fabry disease from hypertrophic cardiomyopathy.

Main Methods:

  • A blinded echocardiography study was conducted.
  • Included 23 patients with Fabry disease and matched controls.
  • Evaluated the presence of endocardial binary appearance in both groups.

Main Results:

  • Only two Fabry patients exhibited the binary endocardial appearance.
  • The sign was also observed in four control subjects.
  • Sensitivity and specificity for detecting Fabry disease were low (15.4% and 73.3% overall, respectively).

Conclusions:

  • The endocardial binary appearance on echocardiography is not a feasible screening method for Fabry disease.
  • This echocardiographic sign lacks sufficient accuracy for reliable diagnosis or screening.
Abstract

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