Prolonged QTc Interval in Association With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

被引:7
|
作者
Wiles, Jason R. [1 ]
Leslie, Nancy [2 ,3 ]
Knilans, Timothy K. [3 ,4 ,5 ]
Akinbi, Henry [1 ,3 ]
机构
[1] Univ Cincinnati, Coll Med, Perinatal Inst, Div Neonatol, Cincinnati, OH USA
[2] Univ Cincinnati, Coll Med, Div Human Genet, Cincinnati, OH USA
[3] Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH USA
[4] Univ Cincinnati, Coll Med, Inst Heart, Cincinnati, OH USA
[5] Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA
基金
美国国家卫生研究院;
关键词
medium-chain acyl-coenzyme A dehydrogenase deficiency; MCAD; neonate; prolonged QT; COMMON VARIANTS; ARRHYTHMIAS; DURATION;
D O I
10.1542/peds.2013-1105
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is the most common disorder of mitochondrial fatty acid oxidation. We report a term male infant who presented at 3 days of age with hypoglycemia, compensated metabolic acidosis, hypocalcemia, and prolonged QTc interval. Pregnancy was complicated by maternal premature atrial contractions and premature ventricular contractions. Prolongation of the QTc interval resolved after correction of metabolic derangements. The newborn screen was suggestive for MCAD deficiency, a diagnosis that was confirmed on genetic analysis that showed homozygosity for the disease-associated missense A985G mutation in the ACADM gene. This is the first report of acquired prolonged QTc in a neonate with MCAD deficiency, and it suggests that MCAD deficiency should be considered in the differential diagnoses of acute neonatal illnesses associated with electrocardiographic abnormality. We review the clinical presentation and diagnosis of MCAD deficiency in neonates.
引用
收藏
页码:E1781 / E1786
页数:6
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