29 October 2020
: Case report 
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-Sánchez1ABDEF*, Esther Cambronero-Cortinas1ADE, Manuel Barreiro-Pérez1BDE, Juan L. Rodríguez-Hernández1BF, Brais Díaz-Fernández1CF, Pedro L. Sánchez1ADOI: 10.12659/AJCR.925631
Am J Case Rep 2020; 21:e925631
Figure 7. Comparison between the index patient and his brother and daughter. The 3 individuals have the same heterozygote GLA p.F113L mutation for late-onset Anderson-Fabry disease (AFD). Steady-state free precession cine (left column) and native T1 mapping (right column) in mid-short-axis view. (A1, A2) The index patient, a 60-year-old man with late-onset AFD in the hypertrophic and inflammatory phase. (B1, B2) The index patient’s 58-year-old brother, who has AFD in the hypertrophic and inflammatory phase. (C1, C2) The index patient’s 28-year-old daughter, who has late-onset AFD in the accumulation phase.