Carnitine deficiency induces a short QT syndrome
Carnitine deficiency induces a short QT syndrome
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DOI：
10.1016/j.hrthm.2015.07.027
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发表时间：
2016-01-01
期刊：
影响因子：
5.5
通讯作者：
Le Guennec, Jean Yves
中科院分区：
文献类型：
--
作者：
Roussel, Julien;Labarthe, Francois;Le Guennec, Jean Yves
短QT综合征与心律失常和意外猝死的风险增加有关。到目前为止，只有基因突变编码的心脏钾和钙通道已牵连在早期T波repolarization.Objective本研究的目的是确认短QT综合征和肉毒碱deficiency.METHODS之间的关系，我们报告3例受影响的原发性全身性肉毒碱缺乏症和相关的短QT综合征。1例以成年早期室颤为首发症状。为了证实肉毒碱、短QT综合征和心律失常之间的关系，我们使用了长期皮下灌注MET 88诱导的肉毒碱缺乏小鼠模型。结果MET 88处理的小鼠发生了与线粒体网络重构相关的心肌肥大。连续监测心电图证实QT间期缩短，与血浆肉毒碱浓度呈负相关。在人类中，这样的改变正好与室性早搏和室性心动过速和fibrill.Conclusion总的来说，这些结果表明，长链脂肪酸代谢影响心脏的形态和电功能的成因。
BACKGROUND Short QT syndrome is associated with an increased risk of cardiac arrhythmias and unexpected sudden death. Until now, only mutations in genes encoding the cardiac potassium and calcium channels have been implicated in early T-wave repolarization.OBJECTIVE The purpose of this study was to confirm a relationship between a short QT syndrome and carnitine deficiency.METHODS We report 3 patients affected by primary systemic carnitine deficiency and an associated short QT syndrome. Ventricular fibrillation during early adulthood was the initial symptom in 1 case. To confirm the relationship between carnitine, short QT syndrome, and arrhythmias, we used a mouse model of carnitine deficiency induced by long-term subcutaneous perfusion of MET88.RESULTS MET88-treated mice developed cardiac hypertrophy associated with a remodeling of the mitochondrial network. The continuous monitoring of electrocardiograms confirmed a shortening of the QT interval, which was negatively correlated with the plasma carnitine concentration. As in humans, such alterations coincided with the genesis of ventricular premature beats and ventricular tachycardia and fibrillation.CONCLUSION Altogether, these results suggest that long-chain fatty acid metabolism influence the morphology and the electrical function of the heart.