Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children
Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children
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DOI：
10.1161/01.cir.100.22.2248
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发表时间：
1999-11-30
期刊：
影响因子：
37.8
通讯作者：
Saudubray, JM
中科院分区：
文献类型：
--
作者：
Bonnet, D;Martin, D;Saudubray, JM
背景-遗传性脂肪酸氧化障碍的临床表现因酶缺陷而异。它们可能表现为孤立性心肌病、猝死、进行性骨骼肌病或肝功能衰竭。心律失常是一种不寻常的表现症状的脂肪酸氧化deficiency.Methods和Results-Over一段时间的25年，107例患者被诊断为遗传性脂肪酸氧化障碍。24例以心律失常为主要临床表现。这24例病例包括15例室性心动过速，4例房性心动过速，4例窦房结功能障碍伴房性心动过速发作，6例房室传导阻滞，4例新生儿左冠状支传导阻滞。在线粒体内膜长链脂肪酸转运缺陷（肉毒碱棕榈酰转移酶II型缺陷和肉毒碱酰基肉毒碱转位酶缺陷）和三功能蛋白质缺乏症患者中观察到传导障碍和房性心动过速。在任何类型的脂肪酸氧化缺乏症患者中均观察到室性心动过速。心律失常是缺席的患者与初级肉毒碱载体，肉毒碱棕榈酰转移酶I，和中链酰基辅酶A脱氢酶deficiencies. Conclusions-脂肪酸，如长链酰基肉毒碱，代谢中间产物的促炎性的积累，主要是：导致心律失常在婴儿不明原因猝死或未遂以及婴儿传导缺陷或室性心动过速时，应考虑脂肪酸氧化的先天性错误。通过滤纸上血斑的酰基肉毒碱谱可以很容易地确定诊断。
Background-The clinical manifestations of inherited disorders of fatty acid oxidation vary according to the enzymatic defect. They may present as isolated cardiomyopathy, sudden death, progressive skeletal myopathy, or hepatic failure. Arrhythmia is an unusual presenting symptom of fatty acid oxidation deficiencies.Methods and Results-Over a period of 25 years, 107 patients were diagnosed with an inherited fatty acid oxidation disorder. Arrhythmia was the predominant presenting symptom in 24 cases. These 24 cases included 15 ventricular tachycardias, 4 atrial tachycardias, 4 sinus node dysfunctions with episodes of atrial tachycardia, 6 atrioventricular blocks, and 4 left bundle-branch blocks in newborn infants. Conduction disorders and atrial tachycardias were observed in patients with defects of long-chain fatty acid transport across the inner mitochondrial membrane (carnitine palmitoyl transferase type II deficiency and carnitine acylcarnitine translocase deficiency) and in patients with trifunctional protein deficiency. Ventricular tachycardias were observed in patients with any type of fatty acid oxidation deficiency. Arrhythmias were absent in patients with primary carnitine carrier, carnitine palmitoyl transferase I, and medium chain acyl coenzyme A dehydrogenase deficiencies.Conclusions-The accumulation of arrhythmogenic intermediary metabolites of fatty acids, such as long-chain acylcarnitines, ma!: be responsible for arrhythmias. Inborn errors of fatty acid oxidation should be considered in unexplained sudden death or near-miss in infants and in infants with conduction defects or ventricular tachycardia. Diagnosis can be easily ascertained by an acylcarnitine profile from blood spots on filter paper.