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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 A

DOI: 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 patientBrotherDaughter
Clinical featuresSexMaleMaleFemale
Age (years old)605828
New York Heart Association Class (NYHA)III
ArrhythmiasLow-density ventricular and supraventricular premature beatsParoxysmal atrial fibrillationNone
Not performedNot performed
Cardiac features by CMRLeft atrium area (cm)151512
Indexed cardiac mass (g/m)1579056
Max. wall thicknessAnteroseptal 18 mm lateral 16 mmAnteroseptal 16 mm v inferolateral 11 mmAnteroseptal 6 mm inferolateral 6 mm
Indexed LV end diastolic volume (ml/m)938981
LVEF (%)666056
LGEPositive. Mid wall fibrosis at basal to mid lateral segmentsNegativeNegative
Native T1 mapping (ms)8308181017
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.

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923