Cardiac magnetic resonance diagnosis of Fabry disease leads to incidental diagnosis of Klinefelter syndrome: a case report.

Background: Fabry disease is an X-linked lysosomal storage disorder resulting in deficient activity of alpha-galactosidase. Males are general more severely affected however heterozygous females can variably express the disease depending on the degree of random X chromosome inactivation (Lyonization). We present a case where cardiac magnetic resonance diagnosis of late onset Fabry Disease leads to an incidental diagnosis of Klinefelter syndrome.