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.

Eligibility

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