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: Articles

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 ^A* , Esther Cambronero-Cortinas ^A , Manuel Barreiro-Pérez ^B , Juan L. Rodríguez-Hernández ^B , Brais Díaz-Fernández ^C , Pedro L. Sánchez ^A

DOI: 10.12659/AJCR.925631

Am J Case Rep 2020; 21:e925631

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Video 5. Cardiac magnetic resonance imaging of the index patient’s daughter. SSFP cine video at short-axis, 2-chamber, 3-chamber and 4-chamber views. Normal biventricular ejection fraction, no regional wall motion abnormalities. No left ventricular hypertrophy.

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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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