一名特发性心室颤动患者中的一种新的SCN5A变体：心脏成像的阴暗面。
A New SCN5A Variant in a Patient with Idiopathic Ventricular Fibrillation: The Dark Side of Cardiac Imaging.
作者信息
Benvenga Rossella Maria, Polito Maria Vincenza, Prota Costantina, Dellegrottaglie Santo, Ragosa Nicola, D'Arco Gianpaolo, Ducceschi Valentino, Aloia Antonio
机构信息
Division of Cardiology, Presidio Ospedaliero San Luca, Vallo della Lucania, Acerra, Naples, Italy.
Division of Cardiology, Ospedale Evangelico Betania, Acerra, Naples, Italy.
出版信息
J Cardiovasc Echogr. 2021 Oct-Dec;31(4):242-245. doi: 10.4103/jcecho.jcecho_66_21. Epub 2022 Jan 24.
We present the case of a patient with recurrent episodes of ventricular fibrillation without evidence of structural cardiac diseases on imaging techniques and negative genetic testing for the most common primary arrhythmia syndromes. A new variant c.6023C>T p.Pro2008Leu of the SCN5A protein, responsible for the sodium inward current (I) through the cardiomyocytes, was found. A likely pathogenic effect of this gene variant was hypothesized.
我们报告了一例室颤反复发作的患者，影像学检查未发现结构性心脏病证据，针对最常见的原发性心律失常综合征的基因检测结果为阴性。发现了SCN5A蛋白的一个新变异c.6023C>T p.Pro2008Leu，该蛋白负责心肌细胞的内向钠电流（I）。推测该基因变异可能具有致病作用。
Zotero 插件