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 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.