Hidden heart risk: study screens for rare genetic disease in 409 patients

NCT ID NCT05409846

First seen Nov 01, 2025 · Last updated May 15, 2026 · Updated 28 times

Summary

This study looked at 409 adults in Portugal who had heart muscle diseases (cardiomyopathies) with no clear cause. The goal was to find out how many of them actually had Fabry disease, a rare genetic condition that can affect the heart. Researchers tested patients with different types of unexplained heart problems to better understand the true frequency of Fabry disease in this group.

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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.