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Backgrounds  Arrhythmic right ventricular cardiomyopathy (ARVC) is a cardiomyopathy with a genetic predisposition that can lead to a sudden cardiac death and heart failure. According to the 2010 Task Force Criteria, genetic diagnosis is one of the most important methods, but, so far, only a few genes related to ARVC have been identified.    Methods  In this study, the pathogenic gene of a patient with ARVC was examined using whole-exome sequencing. The plasmids of  TNNI3K  were constructed, and the effects of the  TNNI3K  variant was investigated by a real-time polymerase chain reaction (PCR) and western blot.    Results  A novel variant (c.1538T &amp;gt; C) of  TNNI3K  was identified, with phenotypes of dominant right ventricular (RV) disease preliminarily fulfilling the diagnosis of ARVC. A comprehensive assessment revealed that the variant was pathogenic. We found that this variant would lead to a decrease in the level of  TNNI3K  mRNA and protein, as well as a decrease in the expression of the  RYR2  gene, which further proves that  TNNI3K  plays an important role in cardiomyopathy and expands the spectrum of the  TNNI3K  variants.    Conclusion  In this study, we reported a  TNNI3K  variant in ARVC for the first time, and the results not only contribute to the diagnosis of ARVC, but also provide a reference for genetic counseling and promote the understanding of the genetic mechanism of cardiomyopathy.

Whole-Exome Sequencing Identifies a Novel Variant (c.1538T > C) of TNNI3K in Arrhythmogenic Right Ventricular Cardiomyopathy