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Screening of Fabry Disease in Patients with Chest Pain Without Obstructive Coronary Artery Disease

Aitor Hernández-Hernández1, Carles Diez-López2, Olga Azevedo3

  • 1Hospital Universitario Puerta de Hierro Majadahonda, CIBERCV, Manuel de Falla, 2. Majadahonda, 28222, Madrid, Spain.

Journal of Cardiovascular Translational Research
|January 21, 2021
PubMed

Insights

Anderson-Fabry disease (AFD) is rarely a cause of chest pain in patients without obstructive coronary artery disease. Screening for AFD in this population is not recommended due to its low prevalence.

Area of Science:

  • Cardiology
  • Genetics
  • Rare Diseases

Background:

  • Anderson-Fabry disease (AFD) diagnosis in cardiac patients has historically focused on left ventricular hypertrophy.
  • Coronary microvascular dysfunction is increasingly recognized in AFD, potentially serving as an early diagnostic marker, even without cardiac hypertrophy.

Purpose of the Study:

  • To investigate the prevalence of Anderson-Fabry disease (AFD) in patients presenting with chest pain but having normal or non-obstructive coronary arteries.

Main Methods:

  • A cohort of 663 patients with chest pain and normal or non-obstructive coronary arteries was studied.
  • Prevalence of AFD was determined within this specific patient group.

Main Results:

  • The overall prevalence of Anderson-Fabry disease (AFD) in the studied cohort was found to be very low, at only 0.15% (1 out of 663 patients).
  • AFD is not a common etiological factor for chest pain in individuals without obstructive coronary artery disease.

Conclusions:

  • Anderson-Fabry disease (AFD) is an infrequent cause of chest pain in patients with normal or non-obstructive coronary arteries.
  • Routine screening for AFD is not advisable in this patient population due to the low observed prevalence.

Keywords:
AnginaCardiovascular diseaseChest painFabry disease

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