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Electrocardiographic Assessment and Genetic Analysis in Neonates: A Current Topic of Discussion

机译:新生儿心电图评估和遗传分析:当前的讨论话题

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摘要

Sudden death of a newborn is a rare entity, which may be caused by genetic cardiac arrhythmias. Among these diseases, Long QT syndrome is the most prevalent arrhythmia in neonates, but other diseases such as Brugada syndrome, Short QT syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia also cause sudden death in infants. All these entities are charac-terized by well-known alterations in the electrocardiogram and the first symptom of the disease may be an unexpected death. Despite the low prevalence of these diseases, the performance of an electro-cardiogram in the first hours or days after birth could help identify these electrical disruptions and adopt preventive measures. In recent years, there has been an important impulse by some experts in the scientific community towards the initiation of a newborn electrocardiogram-screening program, for the detection of these electrocardiographic abnormalities. In addition, the use of genetic analysis in neonates could identify the cause of these heart alterations. Identification of relatives carrying the ge-netic alteration associated with the disease allows adoption of measures to prevent lethal episodes.
机译:新生儿突然死亡是一种罕见的病因,可能是由于遗传性心律不齐所致。在这些疾病中,长QT综合征是新生儿中最普遍的心律失常,但是其他疾病(例如Brugada综合征,Short QT综合征和儿茶酚胺能性多形性室性心动过速)也会导致婴儿猝死。所有这些实体的特征都是心电图的众所周知的变化,该病的首发症状可能是意外死亡。尽管这些疾病的患病率较低,但在出生后头几小时或几天内的心电图表现可能有助于识别这些电干扰并采取预防措施。近年来,科学界的一些专家对启动新生儿心电图检查程序进行检测,以检测这些心电图异常表现出了重要的推动力。另外,在新生儿中进行基因分析可以确定这些心脏改变的原因。鉴定携带与该疾病有关的遗传改变的亲属,可以采取预防致命事件的措施。

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