Case report: A new de novo mutation of the Troponin T2 gene in a Chinese patient with dilated cardiomyopathy

Huan Yang; Ke Gong; Yong Luo; Lei Wang; Zhiping Tan; Yao Yao; Li Xie

doi:10.3389/fcvm.2023.1288328

Case report: A new de novo mutation of the Troponin T2 gene in a Chinese patient with dilated cardiomyopathy

Front Cardiovasc Med. 2023 Nov 20:10:1288328. doi: 10.3389/fcvm.2023.1288328. eCollection 2023.

Authors

Huan Yang^#¹, Ke Gong^#², Yong Luo², Lei Wang², Zhiping Tan², Yao Yao³, Li Xie²

Affiliations

¹ Department of Pulmonary and Critical Care Medicine, Hunan Provincial People's Hospital, The First Affiliated Hospital of Hunan Normal University, Changsha, China.
² Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Central South University, Changsha, China.
³ Department of Blood Transfusion, The Second Xiangya Hospital of Central South University, Central South University, Changsha, China.

^# Contributed equally.

Abstract

Dilated cardiomyopathy (DCM) is a cardiovascular disease characterized by persistent ventricular dilatation and systolic dysfunction. DCM has a variety of causes, including myocarditis; exposure to narcotics, alcohol, or other toxins; and metabolic or endocrine disorders. Genetic factors play a dominant role in 30%-40% of DCM cases. Here, we report a case of DCM with very severe heart failure. Because of the severity of heart failure, the patient underwent heart transplantation. We speculated that the patient's DCM might be due to a mutation; hence, we performed whole-exome sequencing of the patient and their parents, which showed a de novo heterozygous mutation (NM_001001431.2c.769G>A:p.E257K) in TNNT2, which was considered pathogenic according to the ACMG pathogenicity assessment. This finding expands the genetic map of DCM and TNNT2 and will be important for future studies on the genetic and disease relationships between DCM and TNNT2.

Keywords: TNNT2; dilated cardiomyopathy; genome; mutation; whole-exome sequencing.

Publication types

Case Reports

Grants and funding

The author(s) declare financial support was received for the research, authorship, and/or publication of this article.