Screening of Fabry Disease in Portuguese Patients With Idiopathic Cardiomyopathies

Study Overview
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Brief Summary
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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.

Official Title
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Frequency of Fabry Disease in Portuguese Patients With Idiopathic Cardiomyopathies

Conditions
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Fabry Disease

Intervention / Treatment
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* Diagnostic Test: Alfa-galactosidase activity and genetic testing for Fabry diagnosis


Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 30 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Group A<br>Idiopathic hypertrophic cardiomyopathy | Diagnostic Test: Alfa-galactosidase activity and genetic testing for Fabry diagnosis<br>* Dry blood spot analysis and blood sample (if necessary)<br>|
| Group B<br>Idiopathic left ventricle hypertrophy | Diagnostic Test: Alfa-galactosidase activity and genetic testing for Fabry diagnosis<br>* Dry blood spot analysis and blood sample (if necessary)<br>|
| Group C<br>Idiopathic burned-out hypertrophic cardiomyopathy | Diagnostic Test: Alfa-galactosidase activity and genetic testing for Fabry diagnosis<br>* Dry blood spot analysis and blood sample (if necessary)<br>|
| Group D<br>Idiopathic dilated cardiomyopathy | Diagnostic Test: Alfa-galactosidase activity and genetic testing for Fabry diagnosis<br>* Dry blood spot analysis and blood sample (if necessary)<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Frequency of Fabry Disease in patients with idiopathic cardiomyopathies | Ratio of number of patients with Fabry Disease and total number of idiopathic cardiomyopathies patients | 12 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Familiar screening of Fabry Disease | Number of relatives with Fabry Disease | 12 months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Idiopathic cardiomyopathies