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Front. Cardiovasc. Med.
Sec. Cardiovascular Genetics and Systems Medicine
Volume 11 - 2024 | doi: 10.3389/fcvm.2024.1296099

Case Report: A new de novo mutation in the troponin T2 gene in a Chinese patient with left ventricular noncompaction cardiomyopathy Provisionally Accepted

 Ke Gong1 Yao Yao1 Yong Luo1 Lei Wang1  Zhi-Ping Tan1  Li Xie1* Sijie Wu1
  • 1Second Xiangya Hospital, Central South University, China

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Background: Left ventricular noncompaction cardiomyopathy (LVNC) is a rare cardiomyopathy characterized by a significant "spongiform" appearance of the left ventricular myocardium.Noncompaction of the myocardium mainly involves the distal apex of the left ventricle. The most common LVNC subtype is isolated or benign. In many cases, it may be initially asymptomatic unless it presents as a hypertrophic, dilated, or arrhythmogenic form. The main clinical manifestations of the disease are cardiac insufficiency, arrhythmia, and thrombosis. The clinical manifestations of LVNC in children are lack of specificity. The above symptoms should alert clinicians to the possibility of LVNC immediately. Echocardiography and electrocardiogram screening should be performed timeously, and genetic testing should be performed when appropriate to comprehensively evaluate the prognosis of children with LVNC.Case presentation: Here, we describe a 4-month-old boy who presented with persistent manifestations of dyspnea and pneumonia and underwent color Doppler ultrasound.Results: Cardiac computed tomography angiography and MRI revealed very poor cardiac function, which was determined to be left ventricular noncompaction. TNNT2 gene mutation was found to be the most likely cause of the disease. Whole exome sequencing revealed a de novo heterozygous TNNT2 mutation (NM_001001432.2:c.421A>G:p.K141E).We assessed it as likely pathogenic on the basis of the American College of Medical Genetics and Genomics pathogenicity assessment. This report expands the genetic map for future studies on left ventricular noncompaction and TNNT2.

Keywords: Left ventricular noncompaction, Mutation, TNNT2, Genome, Whole-exome sequencing

Received: 18 Sep 2023; Accepted: 15 Apr 2024.

Copyright: © 2024 Gong, Yao, Luo, Wang, Tan, Xie and Wu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Mx. Li Xie, Second Xiangya Hospital, Central South University, Changsha, Hunan Province, China