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Objective:To explore the relationship between genotypes and phenotypes in hypertrophic cardiomyopathy(HCM) patients using whole exome sequencing(WES) and three-dimensional speckle-tracking echocardiography(3D-STE).Methods:Twenty patients with apical HCM(ApHCM) and 25 patients with non-apical HCM(non-ApHCM) from June 2018 to January 2019 in Zhongshan Hospital of Fudan University were enrolled. All subjects underwent venous blood sampling and WES. Regular two-dimensional echocardiography was performed to acquire the following parameters: interventricular septum thickness, left ventricular posterior wall thickness, left ventricular end diastolic diameter, left ventricular end systolic diameter, the maximum thickness of left ventricular walls and left ventricular ejection fraction(LVEF). Full volume images were collected and then off-time analyzed with 3D-STE to acquire global longitudinal strain(GLS), global circumferential strain(GCS), twist and torsion. The relationships between above parameters, genotypes and phenotypes of left ventricle were analyzed.Results:Mutations were found in 73% of HCM patients.The two most common genes MYBPC3 and MYH7 accounted for 18% and 15% of mutations respectively. KCNEc.79C>T(p.Arg27Cys) and PRKAG2c.905G>A (p.Arg302Gln) were detected in both ApHCM group and non-ApHCM group. In ApHCM group, 60% of patients carried genetic mutations, which was significantly lower than non-ApHCM group(84%)( P=0.041). Compared with non-ApHCM group, GLS in ApHCM group was significantly higher ( P=0.008). There was no statistical difference of GLS between patients with mutations and without mutations( P=0.068). GLS demonstrated a moderate correlation with morphologic types of HCM(ApHCM and non-ApHCM)( r=0.364, P=0.012). However, there was no correlation between GLS and the condition of mutations( r=0.269, P=0.062). Conclusions:The relationship between genetics and phenotypic expression of HCM appears to be complex and heterogeneous. There are marked differences in gene mutations and systolic functions between ApHCM and non-ApHCM. The value of GLS correlates with the shape of left ventricle but not with genotypes.
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Objective The aim of the present study is to measure multi-directional strain in patients with hyperuricemia through 3-dimensional speckle-tracking echocardiography (3D-STE) in order to investigate the left ventricular function early changes and clinical application value of 3D-STE. Methods 3-dimension dynamic images of left ventricular full volume in Apical 4-chamber heart view was collected and stored. 3-dimensional specke-tracking technology was applied to measure and compare the left ventricular multi-directional strain of patients with hyperuricemia and healthy controls in order to evaluate the left ventricular systolic function. Results A total of 24 healthy controls and 38 patients with hyperuricemia were included into the study. Among them,patients with hyperuricemia were divided into simple hyperuricemia group(n=12), hyperuricemia complicated with hyperlipidemia group (n=16)and hyperuricemia complicated with both hyper-tension and hyperlipidemia group (n=10). The circumferential strain [(-18.8±4.4)% vs (-25.9±6.4)%, t=-3.48, P=0.001] and area strain [(-31.2±3.9)% vs (-36.8±7.1)%, t=-2.55, P=0.018] of patients with simple hyper-uricemia significantly decreased compared with healthy controls. Besides, the circumferential strain [(-19.9 ± 5.8)% vs (-25.9 ±6.4)%, t=-3.02, P=0.002], longitudinal strain [(-12.6 ±3.3)% vs (-14.4 ±2.5)%, t=-1.95, P=0.038] and area strain [(-29.9±6.6)% vs (-25.9±6.4)%, t=-3.15, P=0.001] of patients with hyperuricemia complicated with hyperlipidemia significantly decreased compared with healthy controls. Conclusion Myo-cardial strain of patients with hyperuricemia complicated with hyperlipidemia or not is both decreased, indicating a decline in left ventricular systolic function.
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Objective To investigate the difference between three-dimensional transesophageal echocardiography ( 3DTEE) and CT in measuring the size of aortic ring and the height of coronary ostium . Methods Fifteen patients were recruited and were treated with the transcatheter aortic valve implantation ( TAVI) . Routine transthoracic echocardiography ,two-dimensional echocardiography ( 2DTEE) ,3DTEE and CT examinations were taken preoperatively . Results The minimal diameter ,maximum diameter , perimeter ,area of the aortic ring measured by 3DTTE showed a close correlation and a strong consistency with those measured by CT [ r = 0 .88 , P < 0 .0001 ,ICC = 0 .928 (0 .788 - 0 .976) ; r = 0 .81 , P = 0 .0003 , ICC = 0 .890 ( 0 .673 - 0 .963) , r = 0 .85 , P = 0 .0001 ,ICC = 0 .914 ( 0 .744 - 0 .971) ; r = 0 .88 , P <0 .0001 ,ICC = 0 .932 (0 .799 - 0 .977) ] .The ostium height of the left and right coronary arteries measured by 3DTEE also showed a close correlation and a strong consistency with those measured by MDCT [ r =0 .87 , P < 0 .0001 ,ICC = 0 .923 ( 0 .777 - 0 .975) ; r = 0 .82 , P < 0 .0002 ,ICC = 0 .897 ( 0 .693 - 0 .965) ] . Besides ,inter-observer and intra-observer reproducibility for 3DTEE measurement data were very good . Conclusions 3DTEE has a high repeatability in evaluating minimal diameter , maximum diameter , perimeter ,area of the aortic ring and the height of coronary ostium ,which also shows good correlation with those measured by CT .