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
Table 1. The main clinical and cardiac features by cardiac magnetic resonance imaging in 3 family members with late-onset Anderson-Fabry disease and the same p.F113L pathogenic mutation.
Index patient | Brother | Daughter | ||
---|---|---|---|---|
Clinical features | Sex | Male | Male | Female |
Age (years old) | 60 | 58 | 28 | |
New York Heart Association Class (NYHA) | I | I | I | |
Arrhythmias | Low-density ventricular and supraventricular premature beats | Paroxysmal atrial fibrillation | None | |
Not performedNot performed | ||||
Cardiac features by CMR | Left atrium area (cm) | 15 | 15 | 12 |
Indexed cardiac mass (g/m) | 157 | 90 | 56 | |
Max. wall thickness | Anteroseptal 18 mm lateral 16 mm | Anteroseptal 16 mm v inferolateral 11 mm | Anteroseptal 6 mm inferolateral 6 mm | |
Indexed LV end diastolic volume (ml/m) | 93 | 89 | 81 | |
LVEF (%) | 66 | 60 | 56 | |
LGE | Positive. Mid wall fibrosis at basal to mid lateral segments | Negative | Negative | |
Native T1 mapping (ms) | 830 | 818 | 1017 | |
CMR – cardiac magnetic resonance imaging; ERT – enzyme replacement therapy; LGE – late gadolinium enhancement; LV – left ventricle; LVEF – left ventricular ejection fraction. * Less than 2.8 ng/mL is the lowest quantification limit detected. The normal reference value is >15.3 ng/mL. |