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Objective:To explore the value of three-dimensional speckle tracking imaging (3D-STI) in the diagnosis of immunoglobulin light-chain cardiac amyloidosis(AL-CA) patients with normal left ventricular ejection fraction (LVEF).Methods:A total of 92 consecutive patients diagnosed with systemic immunoglobulin light chain amyloidosis(sAL) and with normal LVEF from October 2014 to January 2018 in Xijing Hospital were enrolled.Based on the diagnostic criteria of cardiac involvement, the patients were divided into AL-CA group (52 cases) and immunoglobulin light chain amyloidosis (AL) group (40 cases). The clinical data and serological markers of the patients were collected, the conventional echocardiography and full-volume three dimensional dynamic images were acquired, left ventricular global longitudinal strain (GLS), global radial strain (GRS), global circumferential strain (GCS), and global area strain (GAS) were analyzed using off-line TomTec software. The differences between the two groups were compared.Results:Compared with the AL group, the NT-proBNP of AL-CA group was significantly higher ( P<0.05) and there were no significant differences of the other serological indexes between the two groups(all P>0.05). Compared with the AL group, the maximal left ventricular wall thickness, left ventricular mass index, left atrial volume index, and E/e′ in the AL-CA group were significantly increased (all P<0.05). There were no significant differences of other conventional echocardiographic measurements between the two groups(all P>0.05). Compared with the AL group, GLS, GAS, and GRS were significantly lower in AL-CA group (all P<0.05); but there was no significant difference of GCS between the two groups( P>0.05). The ROC curve analysis showed that the cut-off values discriminating cardiac involvement were 16.09% for GLS, 36.54% for GAS and 31.90% for GRS. Conclusions:3D-STI measurements of left ventricular myocardial mechanics could detect cardiac involvement in patients with sAL amyloidosis, and provides a new method for diagnosis of AL-CA.
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Objective:To explore the value of three-dimensional speckle tracking imaging (3D-STI) and conventional echocardiography in evaluating left ventricular function characteristics of sarcomere mutation carriers in hypertrophic cardiomyopathy.Methods:Totally 91 subjects with sarcomere mutations in family HCM but without left ventricular hypertrophy (G + /P - group), and 100 normal family members with gender and age matched as the control group (G -/P - group) were enrolled from the center of hypertrophic cardiomyopathy of Xijing Hospital affiliated to the Air Force Military Medical University from February 2013 to April 2017. They all received the comprehensive evaluation of 3D-STI and conventional echocardiography. The ultrasonic paramaters between the two groups were compared. And the diagnostic performance of these paramaters with sarcomere mutations was evaluated. Results:Compared with the G -/P - group, the G + /P -group had larger left atrial diameter (LAD), longer left ventricular isovolumic relaxation time (IVRT), reduced mitral annular systolic velocity (e′), elevated E/e′ ratio, as well as impaired left ventricular global longitudinal and radial strain(GLS and GRS) ( P<0.05). Moreover, the GLS≤19.9%(AUC 0.861, sensitivity 61.4%, specificity 98.5%) and IVRT≥75.5 ms(AUC 0.762, sensitivity 61.4%, specificity 72.6%) showed the best diagnostic performance with sarcomere mutations ( P<0.05). Conclusions:In HCM family members, the sarcomere mutations carriers without left ventricular hypertrophy exhibit impaired left ventricular diastolic function, reduced longitudinal and radial systolic function.Moreover, the GLS and IVRT show the best diagnostic performance for those with sarcomere mutations.
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Objective To explore the changes of left ventricular torsion function in patients with latent obstructive hypertrophic cardiomyopathy ( HCM ) ,and provide quantitative informations for clinical evaluation of cardiac function . Methods A total of 49 consecutive patients with HCM without left ventricular outflow tract obstruction at rest were enrolled . All subjects underwent exercise stress echocardiography . After exercise left ventricular outflow tract pressure gradient ( LVO T‐PG ) ≥30 mm Hg was positive for exercise stress test ( latent obstruction) ,w hile LVO T‐PG＜ 30 mm Hg was negative for exercise stress test ( non‐obstruction) . An ultrasound system obtained two‐dimensional ultrasound images of resting and moving peaks . The global longitudinal strain ( GLS ) ,global circumferential strain ( GCS ) , global radial strain ( GRS) of the left ventricle 16 segments and left ventricular rotation ,twist were analysis using off‐line EchoPAC software . T he differences of the above parameters were compared between the two groups . Results T here were no significant differences in GLS ,GRS ,GCS and Rotation‐B between the two groups in resting and peak period of exercise ( all P ＞ 0 .05 ) ,GRS in both groups were significantly increased compared with that before exercise ( all P ＜ 0 .05 ) . Compared with the negative exercise stress group ,the left ventricular twist and Rotation‐A were significantly increased in resting and peak period of exercise in the positive exercise stress test group( all P ＜0 .05) . Compared with before exercise ,Rotation‐A and left ventricular twist were significantly decreased in the positive exercise stress test group ( all P ＜0 .05) ,while no significantly difference was found in the negative exercise stress group ( all P ＞ 0 .05 ) . Conclusions Left ventricular torsion function is significantly changed in rest and after exercise in latent obstructive HCM patients ,providing valuable quantitative information for clinical comprehensive evaluation of cardiac function .
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<p><b>OBJECTIVE</b>To explore the genotype-phenotype correlation of a MYH7-D554Y mutation identified in an ethnic Han Chinese pedigree affected with hypertrophic cardiomyopathy.</p><p><b>METHODS</b>Ninety six cardiovascular disease-related genes were detected in the proband by exonic amplification and high-throughput sequencing. Suspected mutations were verified by Sanger sequencing among 300 healthy controls as well as family members of the proband. The pathogenicity and conservation of the detected mutations were analyzed with ClustalX, MutationTaster, PolyPhen-2, Provean and SIFT software.</p><p><b>RESULTS</b>Four of the 5 first-degree relatives of the proband were diagnosed with hypertrophic cardiomyopathy. The proband has featured extremely hypertrophic left ventricular wall with a maximal thickness of 35 mm. Genetic testing showed that four of them have carried a heterozygous c.1660G>T (p.Asp554Tyr) mutation of the MYH7 gene, who the remaining one was phenotypically normal and did not carry the mutation. The mutation has not been recorded by the Human Gene Mutation Database (HGMD) and other databases. Bioinformatics analysis suggested that the mutation site is highly conserved and that the mutation is pathogenic.</p><p><b>CONCLUSION</b>The p.Asp554Tyr mutation of the MYH7 gene probably underlies the hypertrophic cardiomyopathy in this pedigree.</p>