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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.
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.
A comprehensive echocardiogram – standard two-dimensional Doppler echocardiography and three-dimensional speckle tracking echocardiography – and electrocardiogram were obtained for members in this family.
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.
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.
In this work, the relationship between the substrate crystallinity and the on-state resistances of silicon carbide (SiC) photoconductive semiconductor switches (PCSSs) was investigated. PCSSs with different channel lengths were fabricated on semi insulating 6H–SiC having different crystal qualities. A method was introduced for determining the photoconductive capacity of the SiC PCSSs. The experimental data suggest that the photoconductive capacity decreases sharply with the degradation of the full width at half maximum of the rocking curve of the 6H–SiC substrates. It is found that increasing the carrier mobility is a key factor for reducing the on-state resistance of the 6H–SiC PCSSs. Moreover, the results in this work present reference for the selection of 6H–SiC substrates for the fabrication of PCSSs and some other photoelectric devices.
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