关键词: Andersen-Tawil syndrome CALM Calmodulinopathy Long QT syndrome Prolonged QT QTc TANGO2 Timothy syndrome

Mesh : Humans Diagnosis, Differential Electrocardiography Arrhythmias, Cardiac / diagnosis genetics physiopathology Long QT Syndrome / diagnosis genetics physiopathology Child Male Female Adolescent Genetic Testing

来  源:   DOI:10.1016/j.ccep.2023.10.006

Abstract:
The case series reviews differential diagnosis of a genetic arrhythmia syndrome when evaluating a patient with prolonged QTc. Making the correct diagnosis requires: detailed patient history, family history, and careful review of the electrocardiogram (ECG). Signs and symptoms and ECG characteristics can often help clinicians make the diagnosis before genetic testing results return. These skills can help clinicians make an accurate and timely diagnosis and prevent life-threatening events.
摘要:
该病例系列回顾了在评估QTc延长的患者时对遗传性心律失常综合征的鉴别诊断。做出正确的诊断需要:详细的病史,家族史,仔细检查心电图(ECG)。体征和症状以及心电图特征通常可以帮助临床医生在基因检测结果返回之前做出诊断。这些技能可以帮助临床医生做出准确和及时的诊断,并防止危及生命的事件。
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