Left Ventricular Non-Compaction, Atrial Fibrillation and ANK2 Mutation in a Young Athlete.

IF 2 Q2 MEDICINE, GENERAL & INTERNAL
Journal of clinical medicine research Pub Date : 2025-01-01 Epub Date: 2025-01-06 DOI:10.14740/jocmr6126
Gabriele De Masi De Luca, Enrico Brancati, Luigi Sciarra, Arianna Di Daniele, Zefferino Palama, Antonio Gianluca Robles, Antonio Scara, Alessio Borrelli, Martina Nesti, Paola Papadia, Giuseppe Prete, Giuseppe De Masi De Luca, Silvio Romano
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Abstract

Left ventricular non-compaction (LVNC) is a rare primary cardiomyopathy with genetic etiology, resulting from an abnormality of myocardial development during embryogenesis. It carries an elevated risk of left ventricular dysfunction, thromboembolic events and malignant arrhythmias. We report the case of LVNC associated with paroxysmal atrial fibrillation and ankyrin 2 (ANK2) mutation at the genetic test. An 18-year-old competitive athlete visited our medical center to undergo the diagnostic investigations protocol preparatory to the release of the suitability for competitive practice. The echocardiographic examination shows LVNC without ventricular remodeling (left ventricular ejection fraction (LVEF) 53%, global longitudinal strain (GLS) -18.3%). The echocardiographic diagnosis was confirmed by cardiac magnetic resonance imaging (cMRI), which revealed dense hypertrabeculation in the left ventricular apex and lateral wall. The cardiogenetic investigation showed a c.9145C>T variant (p.Arg3049Trp) identified in the ANK2 gene. This mutation is associated in the literature with rare cases of LVNC. The patient underwent an extended Holter monitoring which excluded ventricular arrhythmic events but showed two brief episodes of paroxysmal atrial fibrillation. Despite the absence of significant ventricular remodeling, considering the presence of paroxysmal atrial fibrillation and the presence of a mutation in the ANK2 gene, which has several variants related to high-risk phenotypes, it has been decided to suspend the competitive practice, and is defined an adequate clinical-diagnostic follow-up.

一名年轻运动员的左心室非压迫症、心房颤动和 ANK2 基因突变
摘要左心室非压实性心肌病是一种罕见的遗传性原发性心肌病,是由胚胎发育过程中心肌发育异常引起的。它会增加左心室功能障碍、血栓栓塞事件和恶性心律失常的风险。我们报告的情况下,LVNC与阵发性心房颤动和锚蛋白2 (ANK2)突变在基因测试。一名18岁的竞技运动员到我们的医疗中心接受诊断调查,为释放竞技训练的适宜性做准备。超声心动图检查显示LVNC无心室重构(左室射血分数(LVEF) 53%,全纵应变(GLS) -18.3%)。超声心动图诊断经心脏磁共振成像(cMRI)证实,显示左心室尖部和外侧壁致密的高小梁。心脏遗传学研究显示,在ANK2基因中发现了c.9145C>T变异(p.a g3049trp)。在文献中,这种突变与罕见的LVNC病例有关。患者接受了延长的动态心电图监测,排除了室性心律失常事件,但显示了两次短暂的阵发性心房颤动。尽管没有明显的心室重构,但考虑到阵发性心房颤动的存在和ANK2基因突变的存在,该基因有几种与高风险表型相关的变异,已决定暂停竞争性实践,并定义为充分的临床诊断随访。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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CiteScore
5.10
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