Advanced Anderson-Fabry disease presenting with left ventricular apical aneurysm and ventricular tachycardia
Advanced Anderson-Fabry disease presenting with left ventricular apical aneurysm and ventricular tachycardia作者机构：Department of Medicine Division of Cardiology Rush University Medical Center
出 版 物：《World Journal of Clinical Cases》 (世界临床病例杂志)
年 卷 期：2015年第3卷第6期
页 面：519-524页
核心收录：
学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学]
基 金：Supported by Rush University Medical Center Chicago IL United States
主 题：Anderson-Fabry disease Sustained ventricular tachycardia Left ventricular apical aneurysm Hemodynamic compensation Transthoracic echocardiography Magnetic resonance imaging Hypertrophic cardiomyopathy
摘 要：A 54-year-old female with Anderson-Fabry disease(AFD)-R342 Q missense mutation on exon 7 in alphagalactosidase 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.
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