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 2. Transthoracic echocardiogram. (A) Apical 4-chamber. (B) Apical 2-chamber. (C) Parasternal long-axis. (D) Polar map (“bullseye”) of global longitudinal strain of the left ventricle with loss of normal base-to-apex strain values, as an early marker of cardiac involvement in Anderson-Fabry disease. AFD – Anderson-Fabry disease; Ao – aorta; GLS – global longitudinal strain; LV – left ventricle; RV – right ventricle.

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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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