Published online Jun 16, 2015. doi: 10.12998/wjcc.v3.i6.519
Peer-review started: October 20, 2014
First decision: November 14, 2014
Revised: February 6, 2015
Accepted: March 18, 2015
Article in press: March 20, 2015
Published online: June 16, 2015
A 54-year-old female with Anderson-Fabry disease (AFD)-R342Q missense mutation on exon 7 in alpha-galactosidase A (GLA) gene - presented with sustained ventricular tachycardia. Imaging confirmed the presence of a new left ventricular apical aneurysm (LVAA) and a significantly reduced intra-cavitary gradient compared to two years prior. AFDcv is an X-linked lysosomal storage disorder caused by GLA enzyme deficiency. The phenotypic expression of AFD in the heart is not well described. Cardiac involvement can include left ventricular hypertrophy (LVH), which is typically symmetric, but can also mimic hypertrophic cardiomyopathy (HCM). Left ventricular apical aneurysm is a rare finding in HCM. We suggest a shared mechanism of LVAA formation in AFD and HCM, independent of the underlying cardiomyopathy. Mechanisms of LVAA formation in HCM include genetic predisposition and long-standing left ventricular wall stress from elevated intra-cavitary systolic pressures due to mid-cavitary obstruction. Both mechanisms are supported in this patient (a brother with AFD also developed a small LVAA). Screening for AFD should be considered in cases of unexplained LVH, particularly in patients with the aneurysmal variant of HCM.
Core tip: Left ventricular apical aneurysm (LVAA) is a very rare phenomenon in patients with Anderson-Fabry disease (AFD); however, this patient with genetically confirmed AFD presented with a new LVAA. The authors believe that formation of the LVAA is the result of long-standing elevated intra-cavitary systolic pressures and possibly genetic predisposition, similar to what can be seen in hypertrophic cardiomyopathy.