Screening of Fabry Disease in Portuguese Patients With Idiopathic Cardiomyopathies

Universidade do Porto409 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

409

Conditions

Fabry Disease

Interventions

Alfa-galactosidase activity and genetic testing for Fabry diagnosisDIAGNOSTIC_TEST

Dry blood spot analysis and blood sample (if necessary)

Eligibility

Sex: ALLMin age: 30 Years

Medical Language ↔ Plain English

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

Locations (11)

Centro Hospitalar Universitário de Coimbra

Coimbra, Portugal

Hospital da Luz, Lisboa

Lisbon, Portugal

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

Lisbon, Portugal

Outcomes

Primary Outcomes

Frequency of Fabry Disease in patients with idiopathic cardiomyopathies

Ratio of number of patients with Fabry Disease and total number of idiopathic cardiomyopathies patients

Time frame: 12 months

Secondary Outcomes

Familiar screening of Fabry Disease

Number of relatives with Fabry Disease

Time frame: 12 months

Data from ClinicalTrials.gov

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