Early Diagnosis of Abnormal Left Ventricular Systolic Functions of Rare Pathogenic Titin Mutation Gene Carriers in FHCM by Three-Dimensional Speckle Tracking Echocardiography Combined with Gene Detection.
Journal
International journal of clinical practice
ISSN: 1742-1241
Titre abrégé: Int J Clin Pract
Pays: India
ID NLM: 9712381
Informations de publication
Date de publication:
2022
2022
Historique:
received:
07
06
2022
accepted:
14
09
2022
entrez:
28
10
2022
pubmed:
29
10
2022
medline:
1
11
2022
Statut:
epublish
Résumé
This study aimed to explore the early diagnosis of abnormal left ventricular systolic function of rare pathogenic titin (TTN) mutation gene carriers in familial hypertrophic cardiomyopathy (FHCM) by three-dimensional speckle tracking echocardiography (3D-STE) combined with gene detection. Eighteen members of a Hui nationality family in Ningxia province of China were enrolled in this study in July 2019. The proband was tested with high-throughput sequencing of gene detection technology to detect the whole exome, and the mutation locus of pathogenic TTN gene was analyzed. According to the result, 16 subjects were divided into two groups: carrier group ( There were 4 subjects diagnosed as asymptomatic TTN gene carriers with the mutation locus of Val135643Ile. Compared with the noncarrier group, GLS and partial RLS were significantly reduced in the carrier group. The ROC curve shows that GLS has the largest AUC, and its sensitivity was better than LVPWD and specificity was better than IVSD and LVMI obtained from 2DE in the carrier group. There were 4 subjects diagnosed as asymptomatic TTN gene carriers with the mutation locus of Val135643Ile, and their GLS and partial RLS were significantly reduced; GLS had the better sensitivity and specificity than LVPWD, IVSD, and LVMI.
Identifiants
pubmed: 36304977
doi: 10.1155/2022/3415545
pmc: PMC9578807
doi:
Substances chimiques
Connectin
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
3415545Informations de copyright
Copyright © 2022 Xiang-hong Luo et al.
Déclaration de conflit d'intérêts
The authors declare that there are no conflicts of interest.
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