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 ADOI: 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.