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Prenatal Diagnosis of Atrioventricular Block and QT Interval Prolongation by Fetal Magnetocardiography in a Fetus with Trisomy 18 and SCN5A R1193Q Variant

机译:胎儿心动图对18三体和SCN5A R1193Q变异胎儿的房室传导阻滞和QT间隔延长的产前诊断

摘要

We report a case of fetal trisomy 18 with SCN5A R1193Q variant that presented with sinus bradycardia, 2 : 1 atrioventricular block (AVB), and QT interval prolongation. These complex arrhythmias were diagnosed by fetal magnetocardiography combined with ultrasound findings. Advanced AVB and ventricular arrhythmias were confirmed after birth. Genetic testing of the baby revealed a SCN5A R1193Q variant, which we considered could account for the various arrhythmias in this case.
机译:我们报告一例SCN5A R1193Q变异的胎儿三体性18例,表现为窦性心动过缓,2°:1房室传导阻滞(AVB)和QT间隔延长。这些复杂的心律失常是通过胎儿心动图结合超声检查发现的。出生后证实为晚期AVB和室性心律失常。对该婴儿进行的基因测试显示出SCN5A R1193Q变体,在这种情况下,我们认为这可以解释各种心律失常。

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