Article
Different Phenotypes of Anderson-Fabry Disease Identified with Cardiac Magnetic Resonance Imaging in a Family with the Same Late-Onset Mutation.
The American journal of case reports - 29 Oct 2020
Ávila-Sánchez Diego A, Cambronero-Cortinas Esther, Barreiro-Pérez Manuel, Rodríguez-Hernández Juan L, Díaz-Fernández Brais, Sánchez Pedro L
Abstract excerpt
BACKGROUND Cardiac magnetic resonance imaging (CMR) is the only noninvasive test capable of differentiating between hypertrophic cardiomyopathy (HCM) and late-onset Anderson-Fabry disease (AFD). The purpose of this report is to show how CMR led to diagnosis of AFD in 3 family members, 1 of whom previously was misdiagnosed with HCM, and how late-onset AFD can present with different cardiac phenotypes, even in a...
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