Fabry Disease
Conditions
Keywords
Idiopathic cardiomyopathies
Brief summary
In Portugal, the prevalence of Fabry disease is largely unknown as recently has been stressed by the Portuguese hypertrophic cardiomyopathy registry investigators. On the other hand, few data on Fabry screening protocols in patients with compromised ejection fraction including burned-out hypertrophic cardiomyopathy series have been published. This project intends to perform screening of Fabry disease in patients with distinct cardiomyopathy phenotypes of unknown or dubious etiology and explore the less knew impact of the disease in other cardiac phenotypes.
Interventions
DIAGNOSTIC_TESTAlfa-galactosidase activity and genetic testing for Fabry diagnosis
Dry blood spot analysis and blood sample (if necessary)
Sponsors
Centro Hospitalar De São João, E.P.E.
Hospital Pedro Hispano
Centro Hospitalar do Tâmega e Sousa, Hospital Padre Américo
Hospital da Luz, Lisboa
Centro Hospitalar De Trás-Os-Montes E Alto Douro, E.P.E.
Centro Hospitalar Universitário Lisboa Norte, EPE., Hospital de Santa Maria
Centro Hospitalar de Entre Douro e Vouga, E.P.E., Hospital São Sebastião
Centro Hospitalar Universitário de Coimbra
Centro Hospitalar de Vila Nova de Gaia e Espinho, E.P.E.
Centro Hospitalar Universitário de Santo António
Centro de Investigação em Tecnologias e Serviços de Saúde
Rede de Investigação em Saúde
Universidade do Porto
Study design
Observational model
OTHER
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
30 Years to No maximum
Healthy volunteers
No
Inclusion criteria
Patients with heart disease diagnosed after the age of 30: * unexplained hypertrophic cardiomyopathy (Group A) * unexplained left ventricle hypertrophy confirmed in two different examinations using the same or different imaging methods (Group B) * unexplained burned-out hypertrophic cardiomyopathy (Group C) * unexplained dilated cardiomyopathy with evidence of late gadolinium enhancement involving the basal posterolateral wall segments (Group D)
Exclusion criteria
* previous exclusion of Fabry disease * previous identified causal pathogenic/likely pathogenic genetic variant * evidence of cardiomyopathy under the age of 30
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Frequency of Fabry Disease in patients with idiopathic cardiomyopathies | 12 months | Ratio of number of patients with Fabry Disease and total number of idiopathic cardiomyopathies patients |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Familiar screening of Fabry Disease | 12 months | Number of relatives with Fabry Disease |
Countries
Portugal
Outcome results
None listed