Echocardiographic ultrasonic tissue characterization in a case of Fabry's disease following renal transplantation

ABSTRACT

We report a case of Fabry's disease where stabilization of progressive cardiac involvement was recorded in a 29-yr-old Caucasian man, to our knowledge, for the first time by ultrasonic tissue characterization echocardiography after 1 yr of successful renal transplantation.
Three echocardiographic evaluations have been made: the first 3 months before, the second 6 months after, and the third 1 yr after kidney transplantation.
The myocardial structural damage – evaluated by integrated backscatter index – shows a persistence of the impairment of intrinsic myocardial contractility at septum level, probably due to coexistent hypertensive status, which is able to induce per se alterations of myocardial textural parameters. On the other hand, the cyclic variation index at posterior free wall, which is less dependent on strictly hemodynamic factors than the septum, appears quite normal at the third observation.
These data could reflect the improvement of the ultrastuctural myocardial findings in relation to renal transplantation, which could correct not only renal failure but also the enzymatic deficiency by replacement of α-galactosidase A through the transplanted kidney.