Case Report
Copyright ©The Author(s) 2015. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jun 16, 2015; 3(6): 519-524
Published online Jun 16, 2015. doi: 10.12998/wjcc.v3.i6.519
Advanced Anderson-Fabry disease presenting with left ventricular apical aneurysm and ventricular tachycardia
Marie-France Poulin, Alap Shah, Richard G Trohman, Christopher Madias
Marie-France Poulin, Alap Shah, Richard G Trohman, Christopher Madias, Department of Medicine, Division of Cardiology, Rush University Medical Center, Chicago, IL 60612, United States
Author contributions: Poulin MF, Shah A, Trohman RG and Madias C designed the report and contributed to the writing and editing of the paper; Poulin MF and Shah A collected the clinical data.
Supported by Rush University Medical Center, Chicago, IL, United States.
Ethics approval: Rush University Medical Center Institutional Board Review.
Informed consent: The patient gave her verbal informed consent prior to study inclusion.
Conflict-of-interest: All authors have no conflict of to report.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See:
Correspondence to: Christopher Madias, MD, Department of Medicine, Division of Cardiology, Rush University Medical Center, 1750 W. Harrison Street, Suite 985 Jelke, Chicago, IL 60612, United States.
Telephone: +1-312-9426858 Fax: +1-312-9425862
Received: October 20, 2014
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.

Keywords: Anderson-Fabry disease, Sustained ventricular tachycardia, Left ventricular apical aneurysm, Hemodynamic compensation, Transthoracic echocardiography, Magnetic resonance imaging, Hypertrophic cardiomyopathy

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.