Malignant Arrhythmia with Variants of Desmocollin-2 and Desmoplakin Genes
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- Chen Da-Qiu
- Department of Cardiology, Affiliated Nanping First Hospital, Fujian Medical University
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- Shen Xue-Bin
- Department of Cardiology, Affiliated Nanping First Hospital, Fujian Medical University
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- Zhang Shao-Hong
- Department of Medical Laboratory Medicine, Affiliated Nanping First Hospital, Fujian Medical University
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- Ye Gui-Yun
- Department of Medical Laboratory Medicine, Affiliated Nanping First Hospital, Fujian Medical University
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- Xu Shang-Hua
- Department of Cardiology, Affiliated Nanping First Hospital, Fujian Medical University
書誌事項
- タイトル別名
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- A Case Report
抄録
<p>Malignant arrhythmia is a fast cardiac arrhythmia that can lead to a hemodynamic abnormality within a short time, most of which is ventricular tachycardia or ventricular fibrillation (VF), which should be managed in time. Both organic and nonorganic cardiac diseases have the potential to cause malignant arrhythmia. We report a noteworthy case of malignant arrhythmia in a teenager during exercise. Transthoracic echocardiography, cardiac magnetic resonance (CMR), electrophysiological study, magnetic resonance imaging of the brain, electroencephalography, chest X-ray, and blood tests were all normal. Twelve-lead electrocardiography showed incomplete right bundle branch block (IRBBB). Two heterozygous missense variants of the desmocollin-2 gene (DSC2, c.G2446A/p.V816M) and desmoplakin gene (DSP, c.G3620A/p.R1207K) were detected in the peripheral blood of this teenager and his father by genetic testing, which encoded a desmosomal protein that was related to arrhythmogenic right ventricular cardiomyopathy (ARVC). In these two rare variants, DSC2 V816M has been reported but uncertain significance, whereas DSP R1207K is never reported. Therefore, the two site variants in DSC2 and DSP genes are likely to become a new research focus for diagnosis and treatment of ARVC in the future. Meanwhile, this report emphasizes that, in addition to a standard set of laboratory tests and examinations, genetic testing may be useful for analyzing the causes of malignant arrhythmia.</p>
収録刊行物
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- International Heart Journal
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International Heart Journal 60 (5), 1196-1200, 2019-09-27
一般社団法人 インターナショナル・ハート・ジャーナル刊行会