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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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Nomen est omen. Fabry disease.

F Weidemann1, C Wanner, F Breunig

  • 1Department of Medicine/Nephrology, University of Würzburg, Josef-Schneider Str. 2, D 20, 97080 Wuerzburg, Germany. weidemann_f@medizin.uni-wuerzburg.de

European Journal of Echocardiography : the Journal of the Working Group on Echocardiography of the European Society of Cardiology
|May 22, 2008
PubMed
Summary
This summary is machine-generated.

A woman with confirmed Fabry disease presented with classic Fabry cardiomyopathy. Echocardiography and MRI revealed characteristic left ventricular hypertrophy and fibrosis, confirming the diagnosis.

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Area of Science:

  • Cardiology
  • Genetics
  • Medical Imaging

Background:

  • Fabry disease is a rare genetic disorder affecting multiple organs.
  • Cardiac involvement, known as Fabry cardiomyopathy, is a significant complication.
  • Early diagnosis and management are crucial for improving patient outcomes.

Observation:

  • A 47-year-old woman presented with dyspnea and neuropathic pain.
  • Echocardiography showed normal global left ventricular function (ejection fraction 65%) but concentric left ventricular hypertrophy and prominent papillary muscles.
  • Magnetic resonance tomography revealed characteristic postero-lateral wall late enhancement, indicative of fibrosis.

Findings:

  • The patient had genetically confirmed Fabry disease.
  • Imaging findings were typical for Fabry cardiomyopathy.
  • The patient's family name was coincidentally Fabry.

Implications:

  • This case highlights the importance of recognizing cardiac manifestations in Fabry disease.
  • Multimodality imaging plays a key role in diagnosing and characterizing Fabry cardiomyopathy.
  • Understanding the genetic basis and clinical presentation aids in patient management and family screening.