NASCI case of the month: "pseudo normalization of T1 values in Anderson-Fabry disease".

Anderson-Fabry disease (AFD) is a X-linked lysosomal storage disorder that can result in cardiac dysfunction including left ventricular hypertrophy (LVH) and conduction abnormalities (Frontiers in cardiovascular medicine vol. 10) [1]. The manifestations of AFD in women may be isolated to one organ and occur late in life due to the random inactivation of the X chromosome. This non-classic presentation may make reaching a diagnosis more difficult. In our case, a 63-year-old woman with family history of AFD presenting with chest pain underwent echocardiography which showed LVH. Cardiac magnetic resonance (CMR) was performed confirming LVH as well as identifying extensive late gadolinium enhancement. T1 values were normal. Despite normal T1 values and female sex, a diagnosis of cardiac involvement of AFD should still be considered and was confirmed with genetic testing.