Interaction effect of type 2 diabetes mellitus and hypertension on left atrial function: a three-dimensional echocardiography study.

Background: Type 2 diabetes mellitus (T2DM) and hypertension (HT) often coexist and contribute to left atrial (LA) functional abnormalities. The aim of the present study was to explore whether there is a potential interaction effect between T2DM and HT on LA function. Methods: A total of 135 patients (45 with T2DM only, 45 with HT only, and 45 with both T2DM and HT) were enrolled and compared to 45 age- and sex-matched controls. LA volume fraction, including LA ejection fraction (LAEF), LA expansion index (LAEI), LA passive emptying fraction (LAPEF), and LA active emptying fraction (LAAEF), and strain parameters, including LA reservoir longitudinal strain (LASr), LA conduit longitudinal strain (LAScd), and LA contraction longitudinal strain (LASct), were obtained using three-dimensional echocardiography (3DE). Results: Patients with T2DM had significantly more impaired LA reservoir and conduit functions compared to those without T2DM (P<0.05), and patients with HT had a significantly more impaired LA reservoir function, conduit function, and booster pump function compared to those without HT (P<0.05). Two-way analysis of variance showed that there were significant additive interaction effects between T2DM and HT with respect to LASr (PT2DM + HT =0.002) and LAScd (PT2DM + HT =0.001). Generalized linear model demonstrated that T2DM + HT had a greater relative contribution than either T2DM or HT alone to the LA strain indexes, even after adjustment for other confounders (LASr, ßT2DM + HT =-3.931, 95% CI: -6.237 to -1.624, P=0.001; LAScd, ßT2DM + HT=-3.781, 95% CI: -5.653 to -1.908, P<0.001). Conclusions: Both T2DM and HT had an adverse effect on LA function. The coexistence of both conditions further impaired LA performance in an additive interaction fashion.

Interaction effect of hypertension and obesity on left atrial phasic function: a three-dimensional echocardiography study.

Background: Hypertension (HT) and obesity often coexist and contribute to left atrial (LA) dysfunction. The present study aimed to compare LA function in hypertensive individuals and control participants with different body mass index (BMI) categories and to explore whether there is an interaction effect between HT and obesity on LA function. Methods: In this cross-sectional study, a total of 258 individuals (145 hypertensive and 113 non-hypertensive patients) were prospectively enrolled from Fuwai Central China Cardiovascular Hospital from September 2020 to November 2021. Hypertensive and non-hypertensive patients were both divided into three study subgroups (n=35 per group) according to their BMI: normal weight (BMI 18.5-<25 kg/m2), overweight (BMI 25-<30 kg/m2), and obesity (BMI ≥30 kg/m2) groups. LA volume and strain parameters were obtained using three-dimensional echocardiography. Results: A significant interaction effect between HT and obesity on LA function was observed [PInteraction =0.04, 0.03, 0.005, 0.01, and 0.002 for LA ejection fraction (LAEF), LA passive ejection fraction (LAPEF), LA active ejection fraction (LAAEF), LA reservoir longitudinal strain (LASr), and LA contraction longitudinal strain (LASct), respectively; PInteraction <0.001 for LA conduit longitudinal strain (LAScd)]. Univariate correlation analysis revealed that HT [LASr, r=-0.53, 95% confidence interval (CI): -0.62 to -0.42, P<0.001; LAScd, r=-0.49, 95% CI: -0.58 to -0.39, P<0.001; and LASct, r=-0.46, 95% CI: -0.55 to -0.34, P<0.001] and BMI categories (LASr, r=-0.68, 95% CI: -0.75 to -0.61, P<0.001; LAScd, r=-0.47, 95% CI: -0.57 to -0.35, P<0.001; and LASct, r=-0.73, 95% CI: -0.78 to -0.66, P<0.001) were negatively correlated with LA strains. A generalized linear model further demonstrated that there was an interaction effect between HT and obesity on LA strains after adjusting for confounding factors (Model 2: LASr, ßHT*Obesity =-1.91, 95% CI: -3.48 to -0.35, P=0.01; LAScd, ßHT*Obesity =-3.26, 95% CI: -4.83 to -1.70, P<0.001; LASct, ßHT*Overweight =-1.97, 95% CI: -3.03 to -0.91, P<0.001; ßHT*Obesity =-1.54, 95% CI: -2.67 to -0.41, P=0.007). Conclusions: Both HT and increasing BMI category had an adverse effect on LA function. The coexistence of HT and obesity further impaired LA performance in an interaction manner. Weight loss is essential to reduce the incidence of adverse cardiovascular events in hypertensive patients.

Circulating cardiac MicroRNAs safeguard against dilated cardiomyopathy.

BACKGROUND: Cardiac-resident or -enriched microRNAs (miRNAs) could be released into the bloodstream becoming circulating cardiac miRNAs, which are increasingly recognized as non-invasive and accessible biomarkers of multiple heart diseases. However, dilated cardiomyopathy (DCM)-associated circulating miRNAs (DACMs) and their roles in DCM pathogenesis remain largely unexplored. METHODS: Two human cohorts, consisting of healthy individuals and DCM patients, were enrolled for serum miRNA sequencing (10 vs. 10) and quantitative polymerase chain reaction validation (46 vs. 54), respectively. Rigorous screening strategy was enacted to define DACMs and their potentials for diagnosis. DCM mouse model, different sources of cardiomyocytes, adeno-associated virus 9 (AAV9), gene knockout, RNAscope miRNA in situ hybridization, mRFP-GFP-LC3B reporter, echocardiography and transmission electron microscopy were adopted for mechanistic explorations. RESULTS: Serum miRNA sequencing revealed a unique expression pattern for DCM circulating miRNAs. DACMs miR-26a-5p, miR-30c-5p, miR-126-5p and miR-126-3p were found to be depleted in DCM circulation as well as heart tissues. Their expressions in circulation and heart tissues were proven to be correlated significantly, and a combination of these miRNAs was suggested potential values for DCM diagnosis. FOXO3, a predicted common target, was experimentally demonstrated to be co-repressed within cardiomyocytes by these DACMs except miR-26a-5p. Delivery of a combination of miR-30c-5p, miR-126-5p and miR-126-3p into the murine myocardium via AAV9 carrying an expression cassette driven by cTnT promoter, or cardiac-specific knockout of FOXO3 (Myh6-CreERT2 , FOXO3 flox+/+ ) dramatically attenuated cardiac apoptosis and autophagy involved in DCM progression. Moreover, competitively disrupting the interplay between DACMs and FOXO3 mRNA by specifically introducing their interacting regions into murine myocardium crippled the cardioprotection of DACMs against DCM. CONCLUSIONS: Circulating cardiac miRNA-FOXO3 axis plays a pivotal role in safeguarding against myocardial apoptosis and excessive autophagy in DCM development, which may provide serological cues for DCM non-invasive diagnosis and shed light on DCM pathogenesis and therapeutic targets.

Novel rare genetic variants of familial and sporadic pulmonary atresia identified by whole-exome sequencing.

Pulmonary atresia (PA) is a severe cyanotic congenital heart disease. Although some genetic mutations have been described to be associated with PA, the knowledge of pathogenesis is insufficient. The aim of this research was to use whole-exome sequencing (WES) to determine novel rare genetic variants in PA patients. We performed WES in 33 patients (27 patient-parent trios and 6 single probands) and 300 healthy control individuals. By applying an enhanced analytical framework to incorporate de novo and case-control rare variation, we identified 176 risk genes (100 de novo variants and 87 rare variants). Protein‒protein interaction (PPI) analysis and Genotype-Tissue Expression analysis revealed that 35 putative candidate genes had PPIs with known PA genes with high expression in the human heart. Expression quantitative trait loci analysis revealed that 27 genes that were identified as novel PA genes that could be affected by the surrounding single nucleotide polymorphism were screened. Furthermore, we screened rare damaging variants with a threshold of minor allele frequency at 0.5% in the ExAC_EAS and GnomAD_exome_EAS databases, and the deleteriousness was predicted by bioinformatics tools. For the first time, 18 rare variants in 11 new candidate genes have been identified that may play a role in the pathogenesis of PA. Our research provides new insights into the pathogenesis of PA and helps to identify the critical genes for PA.

Favorable mid-term performance of fully biodegradable implantable device for ventricular septal defect closure.

Objectives: To assess the mid-term safety and efficacy of transthoracic perimembranous ventricular septal defect (Pm-VSD) closure using a new biodegradable device. Implantation entailed right subaxillary minithoracotomy under transesophageal echocardiography guidance. Methods: Between October 2019 and January 2020, 13 patients (males, 5; mean age, 3.6 ± 2.5 years) with Pm-VSDs underwent transthoracic device closures at Zhengzhou University Central China Fuwai Hospital as described previously. Delivery pathways were established by manipulating a hollow probe from right atrium through tricuspid valve to right ventricle and then through VSDs to left ventricle, whereupon installation took place. Results: All occluder implantations were successfully executed. Mean defect size was 4.1 ± 1.0 mm, and mean device waist size was 5.2 ± 1.1 mm. One patient (7.7%) with 1.5-mm residual shunt showed complete closure at discharge. There was 1 instance of postoperative incomplete right bundle branch block, which converted to complete right bundle branch block at month 1. During patient follow-up (mean, 24.6 ± 0.8 months), no device dislocations, new residual shunts, new valvular regurgitation, or detectable atrioventricular block ensued. Conclusions: Closure of Pm-VSDs using a novel, fully biodegradable occluder in the manner described has proven safe and effective at mid-term follow-up. Long-term safety and efficacy of this device must be further corroborated in a large patient cohort going forward.

Evaluation of myocardial work in patients with hypertrophic cardiomyopathy and hypertensive left ventricular hypertrophy based on non-invasive pressure-strain loops.

Background: The capacity to distinguish hypertrophic cardiomyopathy (HCM) from hypertensive left ventricular hypertrophy (H-LVH) based on morphological features obtained by conventional echocardiography is limited. We investigated the global myocardial work of the left ventricle in two types of hypertrophies using the non-invasive myocardial work index (NMWI). Methods: Conventional echocardiography was performed on 107 subjects with preserved left ventricular ejection fraction (LVEF ≥ 50%), who comprised patients with HCM (n = 40), H-LVH (n = 35), and healthy people with normal blood pressure and left ventricular structure (n = 32). Except for the conventional echocardiographic parameters, the left ventricular myocardial work parameters based on pressure-strain loops, including global myocardial work index (GWI), global constructive work (GCW), global wasted work (GWW), and global work efficiency (GWE), were evaluated in three groups. Multivariate discriminant analysis and receiver operating characteristic (ROC) curve were used to evaluate the incremental value of NMWI for distinguishing HCM from H-LVH. Results: Compared to the control group, GWI and GCW were significantly lower in HCM patients (P < 0.05), whereas GWI was significantly higher in H-LVH patients. GWW was higher and GWE was significantly decreased in both HCM and H-LVH patients than in the control group (P < 0.05). Multivariate discriminant analysis and ROC curve revealed that the inter-ventricular septum thickness (IVST)/left ventricular posterior wall thickness (LVPWT) and GCW were each able to distinguish HCM from H-LVH. The combination of IVST/LVPWT and GCW discriminated HCM and H-LVH with a higher predictive accuracy of 94.7%. Conclusion: NMWI may provide additional information in evaluating the myocardial function in patients with HCM and H-LVH. Myocardial work combined with conventional echocardiography could improve the clinical diagnostic accuracy of distinguishing HCM and H-LVH.

Non-invasive myocardial work index contributes to early identification of impaired left ventricular myocardial function in uremic patients with preserved left ventricular ejection fraction.

BACKGROUND: Cardiac damage is the leading cause of death in uremic patients. This study aimed to evaluate the application of non-invasive myocardial work index (NIMWI) by echocardiography in assessing the left ventricular (LV) systolic function in uremic patients. METHODS: Twenty-six uremic patients and 27 age- and sex-matched healthy volunteers were enrolled in the study. Except for the conventional echocardiographic parameters, the LV myocardial work (MW) parameters including GWI (myocardial global work index), GCW (global constructive work), GWW (global wasted work), and GWE (global work efficiency) were calculated in study participants. Differences in MW parameters between the uremic and normal groups were compared by independent-sample t-test. Receiver operating characteristic (ROC) curves were constructed for MW parameters to detect abnormal LV systolic function in uremic patients. RESULTS: Compared with the normal group, GWW was significantly increased and GWE decreased in the uremic group (P < 0.05). Area under the curve (AUC) for GWE by the ROC analysis was 0.966. The best threshold, sensitivity and specificity values of GWE to detect abnormality of LV systolic function in uremic patients were 92.5%, 0.89 and 0.96, respectively. CONCLUSIONS: NIMWI may be applied to assess the global MW of uremic patients. The presence of reduced GWE can help identify impaired left ventricular myocardial function in uremic patients with preserved LV ejection fraction with a high sensitivity and specificity.

Predictive value of the echocardiographic noninvasive myocardial work index for left ventricular reverse remodeling in patients with multivessel coronary artery disease after percutaneous coronary intervention.

Background: Coronary artery disease (CAD) can lead to left ventricular (LV) remodeling, which, in adverse cases, has been associated with heart failure and increased mortality. Here, we aimed to evaluate the predictive value of the noninvasive myocardial work index (NIMWI) for LV reverse remodeling in patients with multivessel CAD after percutaneous coronary intervention (PCI). Methods: A total of 88 consecutive patients with multivessel CAD treated with PCI were identified and categorized according to the presence of LV reverse remodeling 3 months after PCI [≥15% decrease in the LV end diastolic volume (LVEDV)]. With the LV pressure-strain loop (PSL) technique, NIMWIs, including the global work index (GWI), global constructive work (GCW), global wasted work (GWW), and global work efficiency (GWE), were statistically compared between the reverse LV remodeling group and nonreverse LV remodeling group 1 week before PCI. Results: Significantly lower GWI, GCW, and GWE, and significantly higher GWW were observed in the reverse LV remodeling group compared with the nonreverse LV remodeling group (P<0.05). Left ventricular mass index (LVMI), GCW, and GWE were independently associated with early LV reverse remodeling. Receiver operating characteristic (ROC) curve analysis demonstrated that GCW was the most powerful predictor of early LV reverse remodeling in patients with CAD [area under the curve (AUC) =0.867]. The optimal cutoff GCW value predictive of early LV reverse remodeling was 1,438.5 mmHg% (sensitivity, 85%; specificity, 70%). Conclusions: GCW, among the NIMWIs, may be the major predictor of LV reverse remodeling in patients with multivessel CAD after PCI. NIMWI could potentially provide a new reference index for the quantitative evaluation of LV myocardial work.

Reference Values of Noninvasive Myocardial Work Indices Measured by Echocardiography in Healthy Children.

Backgroud: Noninvasive myocardial work, estimated by left ventricular (LV) pressure-strain loop (PSL), has been introduced for assessing LV myocardial performance. Based on both blood pressure and speckle-tracking derived strain data, noninvasive myocardial work is considered to be less load-dependent than global longitudinal strain (GLS). In some conditions, such as hypertension or aortic coarctation, the increased afterload will affect strain measurements, and myocardial work can serve as a more robust metric. Objective: We prospectively recruited healthy children to explore the relationship between myocardial work indices and body size parameters, and to determine the reference values of noninvasive myocardial work indices in healthy children. Methods: 183 healthy children (aged 1-18 years, males: 52.5%) were enrolled in the study. Global work index (GWI), global constructive work (GCW), global wasted work (GWW), global work efficiency (GWE), were assessed by LVPSL and compared according to age and sex. Results: The mean for GWI was 1,448.7 ± 265.0 mm Hg%, 1,859.8 ± 290.7 mm Hg% for GCW, and the median (interquartile range) for GWW was 54.0 (33.0-82.0) mm Hg% and 97.0 (95.0-99.0) % for GWE. male had greater GWI and GCW) than female (1,572.5 ± 250.2 mm Hg% vs. 1,312.2 ± 208.7 mm Hg% and 1,944.3 ± 299.2 mm Hg% vs. 1,766.6 ± 251.5 mm Hg%, respectively, all P < 0.001). GWI and GCW were significantly correlated with baseline parameters, including age, height, weight, BSA, body mass index, heart rate, and blood pressure. After indexed to BSA, GWI (BSA), GCW (BSA) remained significantly negatively correlated with age (P < 0.001). Conclusions: we proposed the normal reference values and regression equations for GWI and GCW based on age and BSA in healthy children. This might provide a basis of reference for the evaluation of cardiac function in children with cardiopulmonary disease.

Application value of myocardial work technology by non-invasive echocardiography in evaluating left ventricular function in patients with chronic heart failure.

BACKGROUND: Accurate evaluation of left ventricular (LV) systolic function is the premise for diagnosing and treating chronic heart failure. This study aimed to explore the incremental value of echocardiographic myocardial work in evaluating the LV systolic dysfunction in patients with chronic heart failure. METHODS: A total of 206 participants were enrolled, including 155 patients with chronic heart failure and 51 healthy controls (HC). The chronic heart failure patients were divided into three groups according to LV ejection fraction (LVEF): Heart failure with preserved ejection fraction (HFpEF group, 54 cases, LVEF ≥50%), heart failure with mid-range ejection fraction (HFmrEF group, 50 cases, 40%≤ LVEF <50%), and heart failure with reduced ejection fraction (HFrEF group, 51 cases, LVEF <40%). Except for the conventional echocardiographic parameters, the left ventricular myocardial work parameters, including the global myocardial work index (GWI), global constructive work (GCW), global wasted work (GWW), and global work efficiency (GWE), were calculated in the study participants. One-way analysis of variance test followed by Fisher's least significant difference (LSD) t-test were used to obtain parameters with significant differences, which were then fed into a machine learning model established for subsequent multi-classification of the four groups. The selected myocardial work parameters with high importance rankings resulting from the machine learning model were further compared with the traditional LVEF in the multi-classification of the four groups. RESULTS: All conventional echocardiographic parameters were significantly different between the HFmrEF and HFrEF groups, but only E/e', left atrium showed notable differences between the HFpEF and HC groups (P<0.05). All myocardial work parameters were markedly different between the four groups (P<0.05). LVEF and GWI were more important than the other parameters according to the multi-classification machine learning model. The multi-classification diagnostic performances of LVEF, GWI, and LVEF + GWI were 82%, 88%, and 98%, respectively, which confirmed that GWI + LVEF could complementarily improve the diagnosis accuracy in classifying the four groups, with a performance increase of approximately 10% than each individually. CONCLUSIONS: GWI can play a complementary role to LVEF in the early diagnosis of HFpEF patients from the HC group and improve the clinical evaluation accuracy in chronic heart failure patients. Echocardiographic myocardial work should be utilized along with conventional LVEF to evaluate the systolic function of chronic heart failure patients in clinical practice.

Quantitative Analysis of Myocardial Work by Non-invasive Left Ventricular Pressure-Strain Loop in Patients With Type 2 Diabetes Mellitus.

Background: Type 2 diabetes mellitus (T2DM) is a common risk factor for cardiovascular diseases. The aims of this study were to evaluate the changes in the left ventricular myocardial work in T2DM patients using the left ventricular pressure-strain loop (PSL) technique, and to explore the risk factors for the left ventricular myocardial work impairment. Methods: Fifty patients with T2DM and 50 normal controls (NCs) were included in the study. In addition to conventional echocardiography and two-dimensional speckle tracking echocardiography, the left ventricular myocardial work parameters were measured using PSL technology. Results: The absolute value for global longitudinal strain (GLS), global work index (GWI) and, global constructive work (GCW) were significantly decreased in the T2DM group (P < 0.05), while the left ventricular ejection fraction (LVEF) was not significantly different between the T2DM and NC groups. Multivariable linear regression analysis showed that hemoglobin A1c (HbA1c) was independently related to GWI (ß = -0.452, P < 0.05), while HbA1c and the diabetes duration were independently related to GCW (ß = -0.393, P < 0.05 and ß = -0.298, P < 0.05, respectively). Conclusions: Changes in the left ventricular myocardial systolic function in T2DM patients were identified using PSL technology. HbA1c was shown to be an independent risk factor affecting GWI, while HbA1c and diabetes duration were demonstrated to be independent risk factors affecting GCW.

Association Between Echocardiographic Non-invasive Myocardial Work Indices and Myocardial Fibrosis in Patients With Dilated Cardiomyopathy.

Objectives: To analyze the association between global myocardial work indices evaluated by non-invasive left ventricular (LV) pressure-strain loop (PSL) and LV myocardial fibrosis in patients with dilated cardiomyopathy (DCM). Methods: A total of 57 patients with DCM were included in this prospective study. Global work index (GWI), global constructive work (GCW), global wasted work (GWW), global work efficiency (GWE) and global longitudinal strain (GLS) were measured using LVPSL. LV volumes and LV ejection fraction (LVEF) were evaluated using cardiac magnetic resonance imaging (CMRI), LV myocardial fibrosis was estimated at CMRI by qualitative assessment of late gadolinium enhancement (LGE). According to the CMRI, the studied population was divided into two groups, namely: patients without LGE (LGE-) and patients with LGE (LGE+). Results: The LGE+ group presented with increased age, LV end systolic volume (LVESV) index and reduced GWI, GCW, GWE, GLS, CMRI-derived LVEF (LVEFCMRI), the differences between the two groups were statistically significant (P < 0.05). After correcting for age and LVESV index, LVEFCMRI, GLS, GWI, GCW, and GWE retained independent associations with LV myocardial fibrosis. According to receiver operating characteristics (ROC) analysis, LVEFCMRI, and GCW showed larger AUC and higher accuracy, sensitivity, and specificity than GLS, the accuracy of predicting LV myocardial fibrosis ranged from high to low as: LVEFCMRI, GCW, GWE, GWI, and GLS. Conclusions: LVEFCMRI, GWI, GCW, GWE, and GLS remained significant predictors of LV myocardial fibrosis. LVEFCMRI, and GCW appeared to better predict LV myocardial fibrosis compared with GLS.

Left Ventricular Pressure-Strain Loop-Based Quantitative Examination of the Global and Regional Myocardial Work of Patients with Dilated Cardiomyopathy.

The aim of our prospective pilot study was to explore the distribution characteristics of myocardial work (MW) of patients with dilated cardiomyopathy (DCM) and their clinical value in evaluation of therapeutic effects. Thirty patients with DCM were enrolled in the case group, and 30 healthy patients were randomly allocated to the control group. Global myocardial work (GMW) and regional myocardial work (RMW) of the control and case groups before and after therapy were evaluated by using left ventricular pressure-strain loops and then compared. We found significant differences in GMW and RMW between the control and case groups (p < 0.05). Compared with before therapy, the global work index and 6-min walking distance increased, but LV ejection fraction and global longitudinal strain did not significantly change after therapy. GMW was significantly correlated with LV ejection fraction and global longitudinal strain (p < 0.01). Bland-Altman plot analysis revealed that GMW values were consistent between and within the groups. The results suggest that LV MW values were diffusely impaired in patients with DCM and that the global work index may be used as an indicator in evaluation of therapeutic effects.

Prenatal diagnosis of a right coronary artery to right atrial fistula with a giant coronary artery aneurysm: A case report.

Coronary artery fistula (CAF) is a rare cardiac anomaly. Here, we diagnosed a right coronary artery-right atrium fistula with giant coronary artery aneurysm (CAA) via fetal echocardiography at 35 weeks' gestation. An urgent caesarean delivery was performed at 36 weeks' gestation because CAA caused mitral obstruction, and fetal atrial flutter was present. Following delivery, we performed aneurysm ligation because the new-born developed atrial tachycardia. The intraoperative findings confirmed the sonographic findings. To the best of our knowledge, prenatal ultrasound diagnosis of CAF and giant CAA has not been reported in the literature. We focus on the ultrasonic characteristics and differential diagnosis in this literature.

Prenatal echocardiographic classification and prognostic evaluation strategy in fetal pulmonary atresia with intact ventricular septum.

Fetal pulmonary atresia with intact ventricular septum (PA/IVS) is a rare congenital heart disease. The present study aimed to classify PA/IVS and determine the relationship between prenatal echocardiographic characteristics and postnatal biventricular or univentricular repair strategies.A total of 51 fetuses with PA/IVS were examined from 2012 to 2019. Data on prenatal echocardiography, associated anomaly, karyotype, and outcome were collected. Two-dimensional measurements included tricuspid valve (TV) z-score, mitral valve (MV) z-score, TV/MV ratio, and ratio of right to left ventricle (RV/LV) length, whereas color Doppler measurements included degree of tricuspid regurgitation (TR), ventriculo-coronary artery communication (VCAC), tricuspid inflow duration (TID), cardiac cycle duration (CCD), middle cerebral artery pulsatility index (MCA PI), and umbilical artery pulsatility index (UA PI). Diagnostic classification was based on the development of RV and the presence or absence of VCAC. Postnatal evaluation was divided according biventricular or univentricular repair.Of the 51 fetuses with PA/IVS, 20 were type I, 17 were type II, and 14 were type III. Only one fetus exhibited right aortic arch. The karyotype of all the fetuses was normal. Of the 28 patients who underwent postnatal surgery, 13 (46%) underwent biventricular repair and 15 (54%) underwent univentricular repair. TV z-score was significantly higher for the biventricular repair group compared with univentricular repair group (-1.20 ±â€Š0.98 vs -4.33 ±â€Š0.80, P = .000). TV/MV, RV/LV length, and TID/CCD were significantly higher for the biventricular repair group than the univentricular repair group (0.81 ±â€Š0.14 vs 0.54 ±â€Š0.09, 0.71 ±â€Š0.11 vs 0.49 ±â€Š0.09, 39.20 ±â€Š3.84 vs 29.16 ±â€Š4.58, P = .000). Moderate or severe TR and VCAC were significantly different between the 2 groups (P = .000). Gestational age, MCA PI, and UA PI did not differ between the 2 groups (P = .72, P = .36, P = .06). The cutoff values for the biventricular repair characteristic curves were TV z-score >-3.28, TV/MV ratio >0.71, RV/LV length >0.62, and TID/CCD >33.95%. The sensitivities of the TV z-score, TV/MV, RV/LV length, and TID/CCD were 100%, 77%, 85%, and 92%, respectively. The specificities of the TV z-score, TV/MV, RV/LV length, and TID/CCD were 94%, 100%, 100%, and 94%, respectively.Fetal echocardiography was able to classify PA/IVS according to variable degree of RV and VCAC. In fetal PA/IVS, TV z-score >-3.28, TV/MV >0.71, RV/LV length >0.62, TID/CCD >33.95%, moderate and severe TR, and the absence of VCAC were associated with postnatal biventricular repair strategy. These findings may have implications for prenatal counseling and prediction of fetal outcome.

Investigating the characteristics of echocardiogram, surgical treatment, chromosome and prognosis for fetal right heart enlargement: A STROBE-compliant article.

The prognosis of right heart enlargement varies according to different etiologies. The purpose of this study was to investigate the characteristics of echocardiogram, surgical treatment, chromosome and prognosis for fetal right heart enlargement.The foetal echocardiogram was performed on 3987 pregnant women, and then 88 fetuses with right heart enlargement were identified. The data about prenatal and postnatal echocardiograms, postnatal cardiac surgical treatment, karyotype analysis and autopsy after induced labor were analyzed in the 88 fetuses.Except the 1111 cases that had loss of follow-up, 2876 cases had complete data. Among the 2876 cases, right heart enlargement was identified in 88 fetuses. Of the 88 fetuses, 15 had total atrioventricular septal defect (unbalanced type: right ventricular dominance), 15 Ebstein's anomaly, 18 fallot tetrad, 14 double outlet right ventricle, 13 total anomalous pulmonary venous drainage, and 13 premature closure of ductus arteriosus. Chromosomal abnormality was found in 12 cases.There are many etiological factors causing right heart enlargement. The prognosis is better in the fetuses with single heart malformation than in the fetuses who have extracardiac malformation or/and chromosomal abnormality besides heart malformation. Fetal echocardiography combined with karyotype analysis can provide important bases for evaluating the prognosis of fetuses with right heart enlargement.

Effects of nonvalvular atrial fibrillation on the structure and function of mitral valves (a STROBE-compliant article).

The aim of this study was to explore the effects of nonvalvular atrial fibrillation (NVAF) on the structure and function of mitral valve and analyze independent risk factors of moderate to severe mitral regurgitation (MR) by quantitative measurement of mitral parameters using real-time 3-dimensional transesophageal echocardiography.This study included 30 subjects with sinus rhythm group, and 65 patients with NVAF. The 65 patients with NVAF were divided into 35 with paroxysmal atrial fibrillation group and 30 with persistent atrial fibrillation. According to MR degree, the patients with NVAF were again divided into no or mild MR group (n = 44) and moderate to severe MR group (n = 21).There were significant differences in anterolateral-to-posteromedial diameter (DAlPm), anterior-to-posterior diameter, 3-dimensional circumference (C3D), 2-dimensional area (A2D), mitral leaflet surface area in late systolic phase, the index of mitral valve coaptation and left atrial internal diameter (LAID) between different cardiac rhythm groups (all P < .05). The DAlPm, C3D, A2D, nonplanar angle (θNPA), and LAID were greater but the mitral valve coaptation index was smaller in the moderate to severe MR group than in the no or mild MR group (all P < .05). Logistic regression analysis indicated that DAlPm and LAID were independent risk factors of moderate to severe MR in the patients with NVAF (OR > 1, P < .05).DAlPm and LAID are independent risk factors of moderate to severe MR in the patients with NVAF. NVAF can change the structure and function of mitral valve, which leads to MR.

Evaluation of the left atrial appendage by real time three-dimensional transesophageal echocardiography online.

OBJECTIVE: The objective of this study was to evaluate the feasibility of online real time three-dimensional transesophageal echocardiography (RT3DTEE) in the measurement of left atrial appendage (LAA) orifice size. We also analyzed the correlation between LAA ejection fraction (EF) and its peak empty velocity (PEV). METHODS: There were 91 subjects enrolled in this study, with 46 patients with AF and 45 individuals with sinus rhythm (SR). RT3DTEE was performed by four methods including iSlice and iCrop online and QLAB software 3DQ and GI-3DQ off-line which were used to measure LAA orifice area, long diameter, short diameter, depth in the largest LAA, and number of LAA lobes. These LAA parameters achieved by the four methods were compared, respectively. GI-3DQ off-line was used to measure LAA end-diastolic and end-systolic volumes to calculate EF of LAA. Two-dimensional (2D) TEE was applied to measure PEV of LAA. The correlation between EF and PEV was analyzed. RESULTS: There were no significant differences in all LAA parameters between any two RT3DTEE methods (All P > .05). There was a significant and positive correlation between PEV and EF (r = .423, P = .000). There were statistical differences in LAA EF and PEV between patients with AF and SR individuals (0.38 ± 0.12 vs 0.61 ± 0.07, 35.7 ± 12.1 vs 49.5 ± 10.0 cm/s, P = .000). CONCLUSION: Using online RT3DTEE for measuring LAA orifice size is feasible, and online RT3DTEE is more convenient than offline RT3DTEE. EF is positively correlated with PEV. LAA function is significantly decreased in patients with AF.

Clinical and molecular cytogenetic analyses of four families with 1q21.1 microdeletion or microduplication.

BACKGROUND: Little information is available regarding the penetrance of 1q21.1 copy number variants (CNVs). In the present study, we explored the clinical significance of 1q21.1 microdeletion or microduplication. METHODS: In four families, chromosome karyotype was analyzed using G-banding karyotype analysis technology. CNVs were detected using array-comparative genomic hybridization (aCGH) and then a quantitative polymerase chain reaction (qPCR) was used to validate candidate CNVs. Sequence signature in the breakpoint region was analyzed using University of California Santa Cruz (UCSC) databases. RESULTS: Except for karyotype 45, XX, der (13, 14) (q10, q10) in the mother (I2) of family 2, the karyotype was normal in all other members of the four families. In the mother (I2) and fetus (II2) of family 1, in newborn (II1) of family 2 and in fetus (II1) of family 3, there was 1.22-Mb heterozygous microdeletion in the chromosome 1q21.1q21.2 region. The child (II1) of family 4 had a 1.46-Mb heterozygous microduplication in the chromosome 1q21.1q21.2 region. The results of the qPCR were consistent with that of aCGH. There was large number of low copy repeats (LCRs) in the breakpoint region found by analysis of the UCSC database, and multiple LCRs were matched with sequences in the chromosome 1 short-arm region. CONCLUSIONS: 1q21.1 microdeletion and microduplication exhibit a variety of clinical manifestations and the specificity of their clinical features is not high. The penetrance of the distal 1q21.1 microdeletion may be affected by other factors in the present study. In summary, we report the discovery of a new distal 1q21.1 microduplication, which enriches the CNV spectrum in the 1q21.1 region and is conducive to prenatal genetic counseling.