Case Report: Restrictive cardiomyopathy due to a rare mutation in troponin I gene (TNNI3) in a patient

This study identified a case of RCM due to TNNI3 mutation, emphasizing the importance of cardiac MRI and genetic testing in the clinical diagnosis of RCM and the need for heart transplantation. The study also revealed the possible heterogeneity of TNNI3 mutations across ethnic and geographic backgrounds, suggesting that long-term studies of genetic mutations should be strengthened in the future to promote the development of precision treatment strategies for cardiomyopathy.

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Publication Details

Journal
Frontiers in Cardiovascular Medicine
Published
2024-11-20
DOI
https://doi.org/10.3389/fcvm.2024.1456542
Primary Topic
Cardiomyopathy and Myosin Studies
Type
article
Field-Weighted Citation Impact
0.00
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article

Case Report: Restrictive cardiomyopathy due to a rare mutation in troponin I gene (TNNI3) in a patient

Lili Deng, Liming Luo, Kai Liu, Min Zhang et al.
Frontiers in Cardiovascular Medicine
Cardiomyopathy and Myosin Studies
article

Case Report: Restrictive cardiomyopathy due to a rare mutation in troponin I gene (TNNI3) in a patient

Lili Deng, Liming Luo, Kai Liu, Min Zhang, Cheng Guo
article en

Abstract

This study identified a case of RCM due to TNNI3 mutation, emphasizing the importance of cardiac MRI and genetic testing in the clinical diagnosis of RCM and the need for heart transplantation. The study also revealed the possible heterogeneity of TNNI3 mutations across ethnic and geographic backgrounds, suggesting that long-term studies of genetic mutations should be strengthened in the future to promote the development of precision treatment strategies for cardiomyopathy.

Frontiers in Cardiovascular MedicineVol. 11
Kunming Children's Hospital (CN)
Good health and well-being
Openalex Percentile: Top 61%
Cardiomyopathy and Myosin Studies
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