Arrhythmogenic cardiomyopathy (AC) is an inherited cardiomyopathy characterized by fibro-fatty replacement of cardiomyocytes, leading to life-threatening ventricular arrhythmia and heart failure. Pathogenic variants of desmoglein2 gene (DSG2) have been reported as genetic etiologies of AC. In contrast, many reported DSG2 variants are benign or variants of uncertain significance. Correct genetic variant classification is crucial for determining the best medical therapy for the patient and family members.

中文翻译：

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Ser194Leu DSG2 突变，与致心律失常性左心室心肌病和室性心动过速相关

致心律失常性心肌病（AC）是一种遗传性心肌病，其特征是心肌细胞的纤维脂肪替代，导致危及生命的室性心律失常和心力衰竭。桥粒芯糖蛋白 2 基因 (DSG2) 的致病性变异已被报道为 AC 的遗传病因。相比之下，许多报道的 DSG2 变异是良性的或意义不确定的变异。正确的遗传变异分类对于确定患者及其家人的最佳药物治疗至关重要。