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Investigation of myocardial dysfunction using three-dimensional speckle tracking echocardiography in a genetic positive hypertrophic cardiomyopathy Chinese family

Published online by Cambridge University Press:  06 July 2018

Jing Wang ,
Rui-Qi Guo ,
Jian-Ying Guo ,
Lei Zuo ,
Chang-Hui Lei ,
Hong Shao ,
Li-Feng Wang ,
Yan-Min Zhang  and
Li-Wen Liu
Jing Wang
Affiliation:
Department of Ultrasound, Xijing Hospital, Fourth Military Medical University, Xi’an, Shaanxi, China
Rui-Qi Guo
Affiliation:
Department of Ultrasound, Xijing Hospital, Fourth Military Medical University, Xi’an, Shaanxi, China
Jian-Ying Guo
Affiliation:
Military Patients Reception Center, Xijing Hospital, Fourth Military Medical University, Xi’an, Shaanxi, China
Lei Zuo
Affiliation:
Department of Ultrasound, Xijing Hospital, Fourth Military Medical University, Xi’an, Shaanxi, China
Chang-Hui Lei
Affiliation:
Department of Ultrasound, Xijing Hospital, Fourth Military Medical University, Xi’an, Shaanxi, China
Hong Shao
Affiliation:
Department of Ultrasound, Xijing Hospital, Fourth Military Medical University, Xi’an, Shaanxi, China Department of Cardiology, Xijing Hospital, Fourth Military Medical University, Xi’an, Shaanxi, China
Li-Feng Wang
Affiliation:
Department of Biochemistry and Molecular Biology, Fourth Military Medical University, Xi’an, Shaanxi, China
Yan-Min Zhang
Affiliation:
Xi’an Children’s Hospital of Xi’an Jiaotong University, Children’s Research Institute of Shaanxi Province, Xi’an, Shaanxi, China
Li-Wen Liu*
Affiliation:
Department of Ultrasound, Xijing Hospital, Fourth Military Medical University, Xi’an, Shaanxi, China
*
Author for correspondence: Prof. L.-W. Liu, Department of Ultrasound, Xijing Hospital, Fourth Military Medical University, Xi’an, Shaanxi 710032, China. Tel: +86 29 8477 5443; Fax: +86 29 8324 4121; E-mail: [email protected]
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Abstract

Background

We previously reported four heterozygous missense mutations of MYH7, KCNQ1, MYLK2, and TMEM70 in a single three-generation Chinese family with dual Long QT and hypertrophic cardiomyopathy phenotypes for the first time. However, the clinical course among the family members was various, and the potential myocardial dysfunction has not been investigated.

Objectives

The objective of this study was to investigate the echocardiographic and electrocardiographic characteristics in a genetic positive Chinese family with hypertrophic cardiomyopathy and further to explore the association between myocardial dysfunction and electric activity, and the identified mutations.

Methods

A comprehensive echocardiogram – standard two-dimensional Doppler echocardiography and three-dimensional speckle tracking echocardiography – and electrocardiogram were obtained for members in this family.

Results

As previously reported, four missense mutations – MYH7-H1717Q, KCNQ1-R190W, MYLK2-K324E, and TMEM70-I147T – were identified in this family. The MYH7-H1717Q mutation carriers had significantly increased left ventricular mass indices, elevated E/e’ ratio, deteriorated global longitudinal stain, but enhanced global circumferential and radial strain compared with those in non-mutation patients (all p<0.05). The KCNQ1-R190W carriers showed significantly prolonged QTc intervals, and the MYLK2-K324E mutation carriers showed inverted T-waves (both p<0.05). However, the TMEM70-I147T mutation carriers had similar echocardiography and electrocardiographic data as non-mutation patients.

Conclusions

Three of the identified four mutations had potential pathogenic effects in this family: MYH7-H1717Q was associated with increased left ventricular thickness, elevated left ventricular filling pressure, and altered myocardial deformation; KCNQ1-R190W and MYLK2-K324E mutations were correlated with electrocardiographic abnormalities reflected in long QT phenotype and inverted T-waves, respectively.

Keywords

Hypertrophic cardiomyopathymyocardial dysfunctionthree-dimensional speckle tracking echocardiographymultiple mutations
Type
Original Article
Information
Cardiology in the Young , Volume 28 , Issue 9 , September 2018 , pp. 1106 - 1114
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Copyright
© Cambridge University Press 2018 

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Footnotes

Cite this article: Wang J, Guo R-Q, Guo J-Y, Zuo L, Lei C-H, Shao H, Wang L-F, Zhang Y-M, Liu L-W. (2018). Investigation of myocardial dysfunction using three-dimensional speckle tracking echocardiography in a genetic positive hypertrophic cardiomyopathy Chinese family. Cardiology in the Young28: 1106–1114. doi: 10.1017/S1047951118000860

*

Jing Wang, Rui-Qi Guo, and Jian-Ying Guo contributed equally to this work.

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