Transcatheter closure of perimembranous ventricular septal defect using a novel fully bioabsorbable occluder: multicenter randomized controlled trial.

Although the use of bioabsorbable occluder is expected to reduce the risk of metal occluder-related complications, it has not been approved due to incomplete degradation and new complications. Novel fully bioabsorbable occluders were designed to overcome such limitations. The aim of this study was to investigate the efficacy and safety of a fully biodegradable occluder in patients with ventricular septal defects. 125 patients with perimembranous ventricular septal defect (VSD) larger than 3 mm were screened from April 2019 to January 2020 in seven centers. 108 patients were enrolled and randomized into the bioabsorbable occluder group (n = 54 patients) and nitinol occluder group (n = 54). A non-inferiority design was utilized and all patients underwent transcatheter device occlusion. Outcomes were analyzed with a 24-month follow-up. All patients were successfully implanted and completed the trial. No residual shunt >2 mm was observed during follow-up. Transthoracic echocardiography showed a hyperechoic area corresponding to the bioabsorbable occluder which decreased primarily during the first year after implantation and disappeared within 24 months. Postprocedural arrhythmia was the only occluder-related complication with an incidence of 5.56% and 14.81% for the bioabsorbable and nitinol groups, respectively (P = 0.112). The incidence of sustained conduction block was lower in the bioabsorbable occluder group (0/54 vs. 6/54, P = 0.036) at 24-month follow-up. In conclusion, the novel fully bioabsorbable occluder can be successfully and safely implanted under echocardiography guidance and reduce the incidence of sustained postprocedural arrythmia. The efficacy and safety of this fully biodegradable occluder are non-inferior to that of a traditional nitinol one.

Fate of transposition of the great arteries with pulmonary stenosis after double-root translocation, Rastelli, and Réparation à l'Etage Ventriculaire.

OBJECTIVES:For transposition of the great arteries with unrestricted ventricular septal defect and pulmonary stenosis, double-root translocation is reported to reconstruct ideal double artery roots with growth potential. However, prospective long-term studies describing the long-term outcomes are still scarce. Therefore, the aim was to assess development of double artery roots, hemodynamics, and freedom from death and heart failure 17 years after double-root translocation, Rastelli, and Réparation à l'Etage Ventriculaire procedures.METHODS:In this prospective population-based study, 266 patients with transposition of the great arteries/ventricular septal defect/pulmonary stenosis (from July 2004 to August 2021) were consecutively included before surgery. All patients were divided into 3 groups based on the type of operation: double-root translocation (174), Rastelli (68), and Réparation à l'Etage Ventriculaire (24), who accepted postoperative evaluations annually. Generalized linear mixed model analysis was performed to determine growth potential of artery roots.RESULTS:Longitudinal repeated computed tomography measurements show the pulmonary root has significantly increased diameter (0.62 [0.03] mm/y, P < .001) over time and an adequate Z-score (-0.18) at the last follow-up only in the double-root translocation group. The pressure gradients of double outflow tracts in the double-root translocation group were the least among 3 groups. The probabilities of freedom from death/heart failure at the 15th year were 73.1%, 59.3%, and 60.9% in the double-root translocation, Rastelli, and Réparation à l'Etage Ventriculaire groups, respectively (double-root translocation vs Rastelli, P = .026; double-root translocation vs Réparation à l'Etage Ventriculaire, P = .009; Rastelli vs Réparation à l'Etage Ventriculaire, P = .449).CONCLUSIONS:By reconstructing ideal double artery roots, double-root translocation can provide postoperative long-term excellent hemodynamics and minimal death and heart failure for patients with transposition of the great arteries/ventricular septal defect/pulmonary stenosis.

MAEF-Net: Multi-attention efficient feature fusion network for left ventricular segmentation and quantitative analysis in two-dimensional echocardiography.

The segmentation of cardiac chambers and the quantification of clinical functional metrics in dynamic echocardiography are the keys to the clinical diagnosis of heart disease. Identifying the end-diastolic frames (EDFs) and end-systolic frames (ESFs) and manually segmenting the left ventricle in the echocardiographic cardiac cycle before obtaining the left ventricular ejection fraction (LVEF) is a time-consuming and tedious task for clinicians. In this work, we proposed a deep learning-based fully automated echocardiographic analysis method. We proposed a multi-attention efficient feature fusion network (MAEF-Net) to automatically segment the left ventricle. Then, EDFs and ESFs in all cardiac cycles were automatically detected to compute LVEF. The MAEF-Net method used a multi-attention mechanism to guide the network to capture heartbeat features effectively, while suppressing noise, and incorporated deep supervision mechanism and spatial pyramid feature fusion to enhance feature extraction capabilities. The proposed method was validated on the public EchoNet-Dynamic dataset (n = 1226). The Dice similarity coefficient (DSC) of the left ventricular segmentation reached (93.10 ± 2.22)%, and the mean absolute error (MAE) of cardiac phase detection was (2.36 ± 2.23) frames. The MAE for predicting LVEF was 6.29 %. The proposed method was also validated on a private clinical dataset (n = 22). The DSC of the left ventricular segmentation reached (92.81 ± 2.85)%, and the MAE of cardiac phase detection was (2.25 ± 2.27) frames. The MAE for predicting LVEF was 5.91 %, and the Pearson correlation coefficient r reached 0.96. The proposed method may be used as a new method for automatic left ventricular segmentation and quantitative analysis in two-dimensional echocardiography. Our code and trained models will be made available publicly at https://github.com/xiaojinmao-code/MAEF-Net.

Two approaches for newborns with critical congenital heart disease: a comparative study.

BACKGROUND:Prenatal diagnosis and planned peripartum care is an unexplored concept in China. This study aimed to evaluate the effects of the "prenatal diagnosis and postnatal treatment integrated model" for newborns with critical congenital heart disease.METHODS:The medical records of neonates (≤ 28 days) admitted to Fuwai Hospital were reviewed retrospectively from January 2019 to December 2020. The patients were divided into "prenatal diagnosis and postnatal treatment integrated group" (n = 47) and "non-integrated group" (n = 69).RESULTS:The age of admission to the hospital and the age at surgery were earlier in the integrated group than in the non-integrated group (5.2 ± 7.2 days vs. 11.8 ± 8.0 days, P < 0.001; 11.9 ± 7.0 days vs. 16.5 ± 7.7 days, P = 0.001, respectively). The weight at surgery also was lower in the integrated group than in the non-integrated group (3.3 ± 0.4 kg vs. 3.6 ± 0.6 kg, P = 0.010). Longer postoperative recovery time was needed in the integrated group, with a median mechanical ventilation time of 97 h (interquartile range 51-259 h) vs. 69 h (29-168 h) (P = 0.030) and with intensive care unit time of 13.0 days (8.0-21.0 days) vs. 9.0 days (4.5-16.0 days) (P = 0.048). No significant difference was observed in the all-cause mortality (2.1 vs. 8.7%, P = 0.238), but it was significantly lower in the integrated group for transposition of the great arteries (0 vs. 18.8%, log rank P = 0.032).CONCLUSIONS:The prenatal diagnosis and postnatal treatment integrated model could significantly shorten the diagnosis and hospitalization interval of newborns, and surgical intervention could be performed with a lower risk of death, especially for transposition of the great arteries.

Global Myocardial Work Combined with Treadmill Exercise Stress to Detect Significant Coronary Artery Disease.

BACKGROUND:Myocardial work (MW) derived from the left ventricular pressure-strain loop is a novel and noninvasive method for assessing left ventricular function that accounts for loading conditions. We aimed to explore whether global MW combined with treadmill exercise stress could detect significant coronary artery disease (CAD) in patients with angina pectoris.METHODS:Eighty-five patients with angina pectoris and no prior CAD history were included. All patients underwent treadmill exercise stress echocardiography and coronary angiography. Global MW was constructed from speckle-tracking echocardiography indexed to the brachial systolic blood pressure. The association between MW parameters and the presence of significant CAD was assessed with logistic regression. The discriminative power of MW parameters to detect CAD was assessed with receiver operative characteristic curve, net reclassification improvement, and integrated discrimination improvement analysis.RESULTS:Twenty-five patients had a positive exercise echocardiogram, while significant coronary artery stenosis (≥70% in one or more major epicardial vessels or ≥50% in the left main coronary artery) was observed in 41 patients. The global wasted work (GWW) and global work efficiency (GWE) were significantly higher or lower, respectively, in patients with significant CAD compared with those of nonsignificant CAD at the peak exercise and during recovery periods (P < .05 for all). Multivariate logistic regression analysis demonstrated that peak GWE and recovery GWW could predict significant CAD. Peak GWE had the highest area under the receiver operating characteristic curve (AUC) among all global MW parameters (AUC = 0.836). Furthermore, a model comprising peak GWE and recovery GWW performed better for the identification of significant CAD than peak GWE alone (AUC = 0.856).CONCLUSIONS:Peak GWE could detect significant CAD. The new model, incorporating peak GWE and recovery GWW, not only identified but also provided additional value for estimating the probability of significant CAD. Global MW parameters combined with exercise stress perform as an accurate noninvasive screening before the invasive diagnostic technique.

Echocardiography in the diagnosis of Shone's complex and analysis of the causes for missed diagnosis and misdiagnosis.

BACKGROUND:Shone's complex is a rare syndrome characterized by congenital left heart defects that can differ among the patients.AIM:To use echocardiography in the diagnosis of Shone's complex and analyze the causes of missed diagnosis and misdiagnosis.METHODS:This was a retrospective study of patients who underwent echocardiography and repair surgery from February 14, 2008, to November 22, 2019. The patients were followed once a year at the outpatient clinic after surgery.RESULTS:Sixty-six patients were included. The patients were 2.7 (0.8-5.6) years of age, and 54.5% were male. Ten (15.2%) had a history of heart surgery. The most common heart defect was the Annulo-Leaflet mitral ring (ALMR) (50/66, 75.8%), followed by coarctation of the aorta (CoA) (43/66, 65.2%). The patients had a variety of combinations of defects. Only two (3.0%) patients had all four defects. None of the patients had a family history of congenital heart disease. The preoperative echocardiographic findings were examined against the intraoperative findings. Echocardiography missed an ALMR in 31 patients (47.0%), a parachute mitral valve (PMV) in one patient (1.5%), subaortic stenosis in one patient (1.5%), and CoA in two patients (3.0%).CONCLUSION:Echocardiography is an effective method to diagnose the Shone's complex. Due to this disease's complexity and interindividual variability, Improving the understanding of the disease can reduce misdiagnosis and missed diagnosis.

Handmade tri-leaflet ePTFE conduits versus homografts for right ventricular outflow tract reconstruction.

BACKGROUND:This study aimed to investigate the performance of handmade tri-leaflet expanded polytetrafluoroethylene (ePTFE) conduits in the absence of a suitable homograft.METHODS:Patients who underwent right ventricular outflow tract reconstruction with tri-leaflet ePTFE conduits or homografts between December 2016 and August 2020 were included. The primary endpoint was the incidence of moderate or severe conduit stenosis (≥ 36 mmHg) and/or moderate or severe insufficiency. The secondary endpoint was the incidence of severe conduit stenosis (≥ 64 mmHg) and/or severe insufficiency.RESULTS:There were 102 patients in the ePTFE group and 52 patients in the homograft group. The median age was younger [34.5 (interquartile range: 20.8-62.8) vs. 60.0 (interquartile range: 39.3-81.0) months, P = 0.001] and the median weight was lower [13.5 (10.0-19.0) vs. 17.8 (13.6-25.8) kg, P = 0.003] in the ePTFE group. The conduit size was smaller (17.9 ± 2.2 vs. 20.5 ± 3.0 mm, P < 0.001) and the conduit Z score was lower (1.48 ± 1.04 vs. 1.83 ± 1.05, P = 0.048) in the ePTFE group. There was no significant difference in the primary endpoints (log rank, P = 0.33) and secondary endpoints (log rank, P = 0.35). Multivariate analysis identified lower weight at surgery [P = 0.01; hazard ratio: 0.75; 95% confidence interval (CI) 0.59-0.94] and homograft conduit use (P = 0.04; hazard ratio: 8.43; 95% CI 1.14-62.29) to be risk factors for moderate or severe conduit insufficiency. No risk factors were found for moderate or severe conduit stenosis or conduit dysfunction on multivariate analysis.CONCLUSION:Handmade tri-leaflet ePTFE conduits showed acceptable early and midterm outcomes in the absence of a suitable homograft, but a longer follow-up is needed.

Association of PLXND1 with a novel subtype of anomalous pulmonary venous return.

Anomalous pulmonary venous return (APVR) is a potentially lethal congenital heart disease. Elucidating the genetic etiology is crucial for understanding its pathogenesis and improving clinical practice, whereas its genetic basis remains largely unknown because of complex genetic etiology. We thus performed whole-exome sequencing for 144 APVR patients and 1636 healthy controls and report a comprehensive atlas of APVR-related rare genetic variants. Novel singleton, loss-of-function and deleterious missense variants (DVars) were enriched in patients, particularly for genes highly expressed in the developing human heart at the critical time point for pulmonary veins draining into the left atrium. Notably, PLXND1, encoding a receptor for semaphorins, represents a strong candidate gene of APVR (adjusted P = 1.1e-03, odds ratio: 10.9-69.3), accounting for 4.17% of APVR. We further validated this finding in an independent cohort consisting of 82 case-control pairs. In these two cohorts, eight DVars were identified in different patients, which convergently disrupt the GTPase-activating protein-related domain of PLXND1. All variant carriers displayed strikingly similar clinical features, in that all anomalous drainage of pulmonary vein(s) occurred on the right side and incorrectly connected to the right atrium, which may represent a novel subtype of APVR for molecular diagnosis. Studies in Plxnd1 knockout mice further revealed the effects of PLXND1 deficiency on severe heart and lung defects and cellular abnormalities related to APVR such as abnormal migration and vascular formation of vascular endothelial cells. These findings indicate the important role of PLXND1 in APVR pathogenesis, providing novel insights into the genetic etiology and molecular subtyping for APVR.

Univentricular palliation for a child with severe Uhl's anomaly.

Congenitally corrected transposition with left ventricular outflow obstruction and cardiac malposition: One-and-a-half ventricular repair vs. Fontan pathway?

Objectives:This study was to assess the mid-term results of the one-and-a-half ventricular repair (hemi-Mustard and bidirectional Glenn procedures combined with the Rastelli procedure) and Fontan pathway for correcting congenitally corrected transposition of great artery (ccTGA) patients with left ventricular outflow tract obstruction (LVOTO) and cardiac malposition.Methods:In this retrospective study, 74 consecutive ccTGA with LVOTO and cardiac malposition underwent the one-and-a-half ventricular repair (group A; 33 cases) and Fontan operation (group B; 41 cases) between October 2011 and March 2018. The Median follow-up time was 49 (20-84) and 42 (7-85) months in groups A and B, respectively. To estimate excise tolerance the 6-min walk test (MWT) was performed.Results:No in-hospital death. Compared with group A, group B have significantly less CPB, mechanical ventilation time, and intensive care unit stay, but prolonged pleural effusions developed more frequently in Group B. The survival probability was 90.2% (95% CI, 80.2-100%) and 97.2% (95% CI, 92-100%) at 7 years (p = 0.300) in group A and B. The probability of freedom from re-intervention were 80.6% (95% CI, 66.5-97.6%) and 97.2% (95% CI, 92-100%) at 7 years (p = 0.110). Longitudinal repeated measured echo data at every follow-up time shows that group A has more systemic ventricular EF% (p < 0.001) and less moderate systemic ventricular valve regurgitation (p < 0.001) compared with group B. Estimated by 6 MWT, group A has better outcomes for 6-min walk distance.Conclusions:For correction of ccTGA with LVOTO and cardiac malposition, the one-and-a-half ventricular repair had superior midterm heart function and excise tolerance.

Transcatheter closure of perimembranous ventricular septal defect using a novel fully bioabsorbable occluder: multicenter randomized controlled trial.

Although the use of bioabsorbable occluder is expected to reduce the risk of metal occluder-related complications, it has not been approved due to incomplete degradation and new complications. Novel fully bioabsorbable occluders were designed to overcome such limitations. The aim of this study was to investigate the efficacy and safety of a fully biodegradable occluder in patients with ventricular septal defects. 125 patients with perimembranous ventricular septal defect (VSD) larger than 3 mm were screened from April 2019 to January 2020 in seven centers. 108 patients were enrolled and randomized into the bioabsorbable occluder group (n = 54 patients) and nitinol occluder group (n = 54). A non-inferiority design was utilized and all patients underwent transcatheter device occlusion. Outcomes were analyzed with a 24-month follow-up. All patients were successfully implanted and completed the trial. No residual shunt >2 mm was observed during follow-up. Transthoracic echocardiography showed a hyperechoic area corresponding to the bioabsorbable occluder which decreased primarily during the first year after implantation and disappeared within 24 months. Postprocedural arrhythmia was the only occluder-related complication with an incidence of 5.56% and 14.81% for the bioabsorbable and nitinol groups, respectively (P = 0.112). The incidence of sustained conduction block was lower in the bioabsorbable occluder group (0/54 vs. 6/54, P = 0.036) at 24-month follow-up. In conclusion, the novel fully bioabsorbable occluder can be successfully and safely implanted under echocardiography guidance and reduce the incidence of sustained postprocedural arrythmia. The efficacy and safety of this fully biodegradable occluder are non-inferior to that of a traditional nitinol one.

Fate of transposition of the great arteries with pulmonary stenosis after double-root translocation, Rastelli, and Réparation à l'Etage Ventriculaire.

OBJECTIVES:For transposition of the great arteries with unrestricted ventricular septal defect and pulmonary stenosis, double-root translocation is reported to reconstruct ideal double artery roots with growth potential. However, prospective long-term studies describing the long-term outcomes are still scarce. Therefore, the aim was to assess development of double artery roots, hemodynamics, and freedom from death and heart failure 17 years after double-root translocation, Rastelli, and Réparation à l'Etage Ventriculaire procedures.METHODS:In this prospective population-based study, 266 patients with transposition of the great arteries/ventricular septal defect/pulmonary stenosis (from July 2004 to August 2021) were consecutively included before surgery. All patients were divided into 3 groups based on the type of operation: double-root translocation (174), Rastelli (68), and Réparation à l'Etage Ventriculaire (24), who accepted postoperative evaluations annually. Generalized linear mixed model analysis was performed to determine growth potential of artery roots.RESULTS:Longitudinal repeated computed tomography measurements show the pulmonary root has significantly increased diameter (0.62 [0.03] mm/y, P < .001) over time and an adequate Z-score (-0.18) at the last follow-up only in the double-root translocation group. The pressure gradients of double outflow tracts in the double-root translocation group were the least among 3 groups. The probabilities of freedom from death/heart failure at the 15th year were 73.1%, 59.3%, and 60.9% in the double-root translocation, Rastelli, and Réparation à l'Etage Ventriculaire groups, respectively (double-root translocation vs Rastelli, P = .026; double-root translocation vs Réparation à l'Etage Ventriculaire, P = .009; Rastelli vs Réparation à l'Etage Ventriculaire, P = .449).CONCLUSIONS:By reconstructing ideal double artery roots, double-root translocation can provide postoperative long-term excellent hemodynamics and minimal death and heart failure for patients with transposition of the great arteries/ventricular septal defect/pulmonary stenosis.

MAEF-Net: Multi-attention efficient feature fusion network for left ventricular segmentation and quantitative analysis in two-dimensional echocardiography.

The segmentation of cardiac chambers and the quantification of clinical functional metrics in dynamic echocardiography are the keys to the clinical diagnosis of heart disease. Identifying the end-diastolic frames (EDFs) and end-systolic frames (ESFs) and manually segmenting the left ventricle in the echocardiographic cardiac cycle before obtaining the left ventricular ejection fraction (LVEF) is a time-consuming and tedious task for clinicians. In this work, we proposed a deep learning-based fully automated echocardiographic analysis method. We proposed a multi-attention efficient feature fusion network (MAEF-Net) to automatically segment the left ventricle. Then, EDFs and ESFs in all cardiac cycles were automatically detected to compute LVEF. The MAEF-Net method used a multi-attention mechanism to guide the network to capture heartbeat features effectively, while suppressing noise, and incorporated deep supervision mechanism and spatial pyramid feature fusion to enhance feature extraction capabilities. The proposed method was validated on the public EchoNet-Dynamic dataset (n = 1226). The Dice similarity coefficient (DSC) of the left ventricular segmentation reached (93.10 ± 2.22)%, and the mean absolute error (MAE) of cardiac phase detection was (2.36 ± 2.23) frames. The MAE for predicting LVEF was 6.29 %. The proposed method was also validated on a private clinical dataset (n = 22). The DSC of the left ventricular segmentation reached (92.81 ± 2.85)%, and the MAE of cardiac phase detection was (2.25 ± 2.27) frames. The MAE for predicting LVEF was 5.91 %, and the Pearson correlation coefficient r reached 0.96. The proposed method may be used as a new method for automatic left ventricular segmentation and quantitative analysis in two-dimensional echocardiography. Our code and trained models will be made available publicly at https://github.com/xiaojinmao-code/MAEF-Net.

Two approaches for newborns with critical congenital heart disease: a comparative study.

BACKGROUND:Prenatal diagnosis and planned peripartum care is an unexplored concept in China. This study aimed to evaluate the effects of the "prenatal diagnosis and postnatal treatment integrated model" for newborns with critical congenital heart disease.METHODS:The medical records of neonates (≤ 28 days) admitted to Fuwai Hospital were reviewed retrospectively from January 2019 to December 2020. The patients were divided into "prenatal diagnosis and postnatal treatment integrated group" (n = 47) and "non-integrated group" (n = 69).RESULTS:The age of admission to the hospital and the age at surgery were earlier in the integrated group than in the non-integrated group (5.2 ± 7.2 days vs. 11.8 ± 8.0 days, P < 0.001; 11.9 ± 7.0 days vs. 16.5 ± 7.7 days, P = 0.001, respectively). The weight at surgery also was lower in the integrated group than in the non-integrated group (3.3 ± 0.4 kg vs. 3.6 ± 0.6 kg, P = 0.010). Longer postoperative recovery time was needed in the integrated group, with a median mechanical ventilation time of 97 h (interquartile range 51-259 h) vs. 69 h (29-168 h) (P = 0.030) and with intensive care unit time of 13.0 days (8.0-21.0 days) vs. 9.0 days (4.5-16.0 days) (P = 0.048). No significant difference was observed in the all-cause mortality (2.1 vs. 8.7%, P = 0.238), but it was significantly lower in the integrated group for transposition of the great arteries (0 vs. 18.8%, log rank P = 0.032).CONCLUSIONS:The prenatal diagnosis and postnatal treatment integrated model could significantly shorten the diagnosis and hospitalization interval of newborns, and surgical intervention could be performed with a lower risk of death, especially for transposition of the great arteries.

Global Myocardial Work Combined with Treadmill Exercise Stress to Detect Significant Coronary Artery Disease.

BACKGROUND:Myocardial work (MW) derived from the left ventricular pressure-strain loop is a novel and noninvasive method for assessing left ventricular function that accounts for loading conditions. We aimed to explore whether global MW combined with treadmill exercise stress could detect significant coronary artery disease (CAD) in patients with angina pectoris.METHODS:Eighty-five patients with angina pectoris and no prior CAD history were included. All patients underwent treadmill exercise stress echocardiography and coronary angiography. Global MW was constructed from speckle-tracking echocardiography indexed to the brachial systolic blood pressure. The association between MW parameters and the presence of significant CAD was assessed with logistic regression. The discriminative power of MW parameters to detect CAD was assessed with receiver operative characteristic curve, net reclassification improvement, and integrated discrimination improvement analysis.RESULTS:Twenty-five patients had a positive exercise echocardiogram, while significant coronary artery stenosis (≥70% in one or more major epicardial vessels or ≥50% in the left main coronary artery) was observed in 41 patients. The global wasted work (GWW) and global work efficiency (GWE) were significantly higher or lower, respectively, in patients with significant CAD compared with those of nonsignificant CAD at the peak exercise and during recovery periods (P < .05 for all). Multivariate logistic regression analysis demonstrated that peak GWE and recovery GWW could predict significant CAD. Peak GWE had the highest area under the receiver operating characteristic curve (AUC) among all global MW parameters (AUC = 0.836). Furthermore, a model comprising peak GWE and recovery GWW performed better for the identification of significant CAD than peak GWE alone (AUC = 0.856).CONCLUSIONS:Peak GWE could detect significant CAD. The new model, incorporating peak GWE and recovery GWW, not only identified but also provided additional value for estimating the probability of significant CAD. Global MW parameters combined with exercise stress perform as an accurate noninvasive screening before the invasive diagnostic technique.

Echocardiography in the diagnosis of Shone's complex and analysis of the causes for missed diagnosis and misdiagnosis.

BACKGROUND:Shone's complex is a rare syndrome characterized by congenital left heart defects that can differ among the patients.AIM:To use echocardiography in the diagnosis of Shone's complex and analyze the causes of missed diagnosis and misdiagnosis.METHODS:This was a retrospective study of patients who underwent echocardiography and repair surgery from February 14, 2008, to November 22, 2019. The patients were followed once a year at the outpatient clinic after surgery.RESULTS:Sixty-six patients were included. The patients were 2.7 (0.8-5.6) years of age, and 54.5% were male. Ten (15.2%) had a history of heart surgery. The most common heart defect was the Annulo-Leaflet mitral ring (ALMR) (50/66, 75.8%), followed by coarctation of the aorta (CoA) (43/66, 65.2%). The patients had a variety of combinations of defects. Only two (3.0%) patients had all four defects. None of the patients had a family history of congenital heart disease. The preoperative echocardiographic findings were examined against the intraoperative findings. Echocardiography missed an ALMR in 31 patients (47.0%), a parachute mitral valve (PMV) in one patient (1.5%), subaortic stenosis in one patient (1.5%), and CoA in two patients (3.0%).CONCLUSION:Echocardiography is an effective method to diagnose the Shone's complex. Due to this disease's complexity and interindividual variability, Improving the understanding of the disease can reduce misdiagnosis and missed diagnosis.

Handmade tri-leaflet ePTFE conduits versus homografts for right ventricular outflow tract reconstruction.

BACKGROUND:This study aimed to investigate the performance of handmade tri-leaflet expanded polytetrafluoroethylene (ePTFE) conduits in the absence of a suitable homograft.METHODS:Patients who underwent right ventricular outflow tract reconstruction with tri-leaflet ePTFE conduits or homografts between December 2016 and August 2020 were included. The primary endpoint was the incidence of moderate or severe conduit stenosis (≥ 36 mmHg) and/or moderate or severe insufficiency. The secondary endpoint was the incidence of severe conduit stenosis (≥ 64 mmHg) and/or severe insufficiency.RESULTS:There were 102 patients in the ePTFE group and 52 patients in the homograft group. The median age was younger [34.5 (interquartile range: 20.8-62.8) vs. 60.0 (interquartile range: 39.3-81.0) months, P = 0.001] and the median weight was lower [13.5 (10.0-19.0) vs. 17.8 (13.6-25.8) kg, P = 0.003] in the ePTFE group. The conduit size was smaller (17.9 ± 2.2 vs. 20.5 ± 3.0 mm, P < 0.001) and the conduit Z score was lower (1.48 ± 1.04 vs. 1.83 ± 1.05, P = 0.048) in the ePTFE group. There was no significant difference in the primary endpoints (log rank, P = 0.33) and secondary endpoints (log rank, P = 0.35). Multivariate analysis identified lower weight at surgery [P = 0.01; hazard ratio: 0.75; 95% confidence interval (CI) 0.59-0.94] and homograft conduit use (P = 0.04; hazard ratio: 8.43; 95% CI 1.14-62.29) to be risk factors for moderate or severe conduit insufficiency. No risk factors were found for moderate or severe conduit stenosis or conduit dysfunction on multivariate analysis.CONCLUSION:Handmade tri-leaflet ePTFE conduits showed acceptable early and midterm outcomes in the absence of a suitable homograft, but a longer follow-up is needed.

Association of PLXND1 with a novel subtype of anomalous pulmonary venous return.

Anomalous pulmonary venous return (APVR) is a potentially lethal congenital heart disease. Elucidating the genetic etiology is crucial for understanding its pathogenesis and improving clinical practice, whereas its genetic basis remains largely unknown because of complex genetic etiology. We thus performed whole-exome sequencing for 144 APVR patients and 1636 healthy controls and report a comprehensive atlas of APVR-related rare genetic variants. Novel singleton, loss-of-function and deleterious missense variants (DVars) were enriched in patients, particularly for genes highly expressed in the developing human heart at the critical time point for pulmonary veins draining into the left atrium. Notably, PLXND1, encoding a receptor for semaphorins, represents a strong candidate gene of APVR (adjusted P = 1.1e-03, odds ratio: 10.9-69.3), accounting for 4.17% of APVR. We further validated this finding in an independent cohort consisting of 82 case-control pairs. In these two cohorts, eight DVars were identified in different patients, which convergently disrupt the GTPase-activating protein-related domain of PLXND1. All variant carriers displayed strikingly similar clinical features, in that all anomalous drainage of pulmonary vein(s) occurred on the right side and incorrectly connected to the right atrium, which may represent a novel subtype of APVR for molecular diagnosis. Studies in Plxnd1 knockout mice further revealed the effects of PLXND1 deficiency on severe heart and lung defects and cellular abnormalities related to APVR such as abnormal migration and vascular formation of vascular endothelial cells. These findings indicate the important role of PLXND1 in APVR pathogenesis, providing novel insights into the genetic etiology and molecular subtyping for APVR.

Univentricular palliation for a child with severe Uhl's anomaly.

Congenitally corrected transposition with left ventricular outflow obstruction and cardiac malposition: One-and-a-half ventricular repair vs. Fontan pathway?

Objectives:This study was to assess the mid-term results of the one-and-a-half ventricular repair (hemi-Mustard and bidirectional Glenn procedures combined with the Rastelli procedure) and Fontan pathway for correcting congenitally corrected transposition of great artery (ccTGA) patients with left ventricular outflow tract obstruction (LVOTO) and cardiac malposition.Methods:In this retrospective study, 74 consecutive ccTGA with LVOTO and cardiac malposition underwent the one-and-a-half ventricular repair (group A; 33 cases) and Fontan operation (group B; 41 cases) between October 2011 and March 2018. The Median follow-up time was 49 (20-84) and 42 (7-85) months in groups A and B, respectively. To estimate excise tolerance the 6-min walk test (MWT) was performed.Results:No in-hospital death. Compared with group A, group B have significantly less CPB, mechanical ventilation time, and intensive care unit stay, but prolonged pleural effusions developed more frequently in Group B. The survival probability was 90.2% (95% CI, 80.2-100%) and 97.2% (95% CI, 92-100%) at 7 years (p = 0.300) in group A and B. The probability of freedom from re-intervention were 80.6% (95% CI, 66.5-97.6%) and 97.2% (95% CI, 92-100%) at 7 years (p = 0.110). Longitudinal repeated measured echo data at every follow-up time shows that group A has more systemic ventricular EF% (p < 0.001) and less moderate systemic ventricular valve regurgitation (p < 0.001) compared with group B. Estimated by 6 MWT, group A has better outcomes for 6-min walk distance.Conclusions:For correction of ccTGA with LVOTO and cardiac malposition, the one-and-a-half ventricular repair had superior midterm heart function and excise tolerance.