Hidden heart risk: fabry disease found in unexplained cardiomyopathy patients

NCT ID NCT05409846

First seen Nov 01, 2025 · Last updated Apr 29, 2026 · Updated 24 times

Summary

This study looked at 409 Portuguese adults with unexplained heart muscle disease (cardiomyopathy) to see how many had Fabry disease, a rare genetic condition. Researchers tested patients with different types of heart problems, such as thickened or weakened heart muscle. The goal was to find out how often Fabry disease is missed in these patients and to screen their family members.

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Contacts and locations

Locations

  • Centro Hospitalar De Trás-Os-Montes E Alto Douro, E.P.E.

    Vila Real, 5000-508, Portugal

  • Centro Hospitalar Universitário Lisboa Norte, EPE., Hospital de Santa Maria

    Lisbon, 1600-190, Portugal

  • Centro Hospitalar Universitário São João, E.P.E.

    Porto, 4200-319, Portugal

  • Centro Hospitalar Universitário de Coimbra

    Coimbra, 3000-602, Portugal

  • Centro Hospitalar Universitário de Santo António

    Porto, 4099-001, Portugal

  • Centro Hospitalar de Entre Douro e Vouga, E.P.E., Hospital São Sebastião

    Santa Maria da Feira, 4520-220, Portugal

  • Centro Hospitalar de Vila Nova de Gaia e Espinho, E.P.E.

    Vila Nova de Gaia, 4434-502, Portugal

  • Centro Hospitalar do Tâmega e Sousa, Hospital Padre Américo

    Penafiel, 4564-007, Portugal

  • Faculty of Medicine (FMUP)

    Porto, 4200-319, Portugal

  • Hospital Pedro Hispano (Unidade Local de Saúde Matosinhos)

    Matosinhos Municipality, 4464-513, Portugal

  • Hospital da Luz, Lisboa

    Lisbon, 1500-650, Portugal

Conditions

Explore the condition pages connected to this study.