Different Phenotypes of Anderson-Fabry Disease Identified with Cardiac Magnetic Resonance Imaging in a Family with the Same Late-Onset Mutation

Diego A. Ávila-Sánchez; Esther Cambronero-Cortinas; Manuel Barreiro-Pérez; Juan L. Rodríguez-Hernández; Brais Díaz-Fernández; Pedro L. Sánchez

doi:10.12659/AJCR.925631

29 October 2020 : Case report Spain

Different Phenotypes of Anderson-Fabry Disease Identified with Cardiac Magnetic Resonance Imaging in a Family with the Same Late-Onset Mutation

Unusual clinical course, Challenging differential diagnosis, Rare disease

Diego A. Ávila-Sánchez^1ABDEF*, Esther Cambronero-Cortinas^1ADE, Manuel Barreiro-Pérez^1BDE, Juan L. Rodríguez-Hernández^1BF, Brais Díaz-Fernández^1CF, Pedro L. Sánchez^1A

DOI: 10.12659/AJCR.925631

Am J Case Rep 2020; 21:e925631

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Figure 5. Cardiac magnetic resonance imaging of the index patient. Late gadolinium enhancement study showing mid-wall fibrosis in the basal to mid-lateral segments (white arrow). (A, B) Short-axis view of basal segments. (C, D) Short-axis view of mid-segments.

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Different Phenotypes of Anderson-Fabry Disease Identified with Cardiac Magnetic Resonance Imaging in a Family with the Same Late-Onset Mutation

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