Prolonged QTc-intervals and decreased left ventricular contractility in patients with propionic acidemia
Prolonged QTc-intervals and decreased left ventricular contractility in patients with propionic acidemia
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DOI：
10.1016/j.jpeds.2006.11.043
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发表时间：
2007-02-01
影响因子：
5.1
通讯作者：
Karall, Daniela
中科院分区：
文献类型：
--
作者：
Baumgartner, Daniela;Scholl-Buergi, Sabine;Karall, Daniela
目的：探讨丙酸血症（PA）患者心肌损伤的电生理和功能体征，PA是一种由丙酰辅酶A羧化酶（PCC）缺乏引起的先天性代谢缺陷。在一项观察性纵向研究中，10例PA患者（6名男孩和4名女孩），范围在2.5至20.2之间末次随访时的年龄（中位数9.0）岁，研究时间长达20年使用12导联心电图（ECG）、24小时连续ECG记录、自行车运动试验，以及超声心动图，特别关注复极异常，如校正的QT间期（QTc）延长、心室心律失常和左心室收缩功能。70%的患儿在婴儿期以后QTc间期延长（> 440 ms）。连续心电图记录显示20%的患者心律紊乱。M型超声心动图左室功能降低（缩短分数[FS] < 30%）40%。一名患者表现出扩张型心肌病的迹象。结论：大多数PA患者（即使在临床稳定的情况下）有干扰心脏电生理，可以有助于心脏并发症。可能的机制包括毒性代谢物的影响或必需底物的剥夺。为了避免危及生命的并发症，我们建议对这类患者进行定期心脏病评估。
Objective: To investigate electrophysiological and functional signs of myocardial damage in patients with propionic acidemia (PA), an inborn error of metabolism caused by deficiency of propionyl CoA carboxylase (PCC).Study design: in an observational longitudinal study 10 patients with PA (6 boys and 4 girls) ranging between 2.5 and 20.2 (median 9.0) years of age at last follow-up were investigated over a period of up to 20 (mean 7.4) years using 12-lead electrocardiograms (ECGs), 24-hour continuous ECG recordings, bicycle exercise testings, and echocardiography with special focus on repolarization abnormalities such as corrected QT interval (QTc) prolongation, ventricular dysrhythmias, and left ventricular systolic function.Results: QTc interval was prolonged (> 440 ms) in 70% of patients beyond infanthood. Continuous ECG recordings revealed rhythm disturbances in 20% of patients. M-mode echocardiographic left ventricular function was reduced (fractional shortening [FS] < 30%) in 40%. One patient showed signs of dilated cardiomyopathy.Conclusions: The majority of patients with PA (even in clinically stable situations) have disturbances in cardiac electrophysiology that can contribute to cardiac complications. Possible mechanisms include effects of toxic metabolites or deprivation of essential substrates. To avoid life-threatening complications, we recommend regular cardiological evaluations in this group of patients.