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.

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.

Transbrachial Access for Transcatheter Closure of Paravalvular Leak Following Prosthetic Valve Replacement.

Background: Transcatheter closure of paravalvular leak (PVL) has evolved into an alternative to surgery in high-risk patients. In this study, we introduce a new access for transcatheter closure of PVL and seek to evaluate the feasibility and safety of this access. Methods: We retrospectively analyzed patients undergoing transbrachial access for transcatheter mitral or aortic PVL closure (August 2017-November 2019) at our hospital. All patients underwent puncture of the brachial artery under local anesthesia. Results: The study population included 11 patients, with an average age of 55.91 ± 14.82 years. Ten out of 11 patients were successfully implanted with devices via the brachial artery approach, and one patient was converted to the transseptal approach. The technical success rate of transbrachial access was 90.9%. Mean NYHA functional class improved from 3.1 ± 0.5 before the procedure to 1.9 ± 0.5 after PVL closure. Severe paravalvular regurgitation (PVR) in five patients and moderate PVR in six patients prior to the procedure were significantly reduced to mild in four patients and none in seven patients after the procedure. Complications included one case of pseudoaneurysm and one case of moderate hemolysis aggravation after closure. One patient had an unknown cause of sudden death within 24 h after the procedure. The half-year mortality rate during follow-up was 9.1% (1/11). Conclusions: Transbrachial access for transcatheter closure of PVL may be a feasible and safe treatment and should include well-selected patients. It has several potential advantages of simplifying the procedure process and reducing postprocedural bed rest time.

Hybrid Balloon Valvuloplasty for the Treatment of Severe Congenital Aortic Valve Stenosis in Infants.

BACKGROUND: Surgical or percutaneous interventional treatment of severe congenital aortic valve stenosis (CAS) in early infancy remains challenging. This single-center, retrospective study analyzed midterm outcomes of a hybrid balloon valvuloplasty procedure through the ascending aorta by way of median sternotomy, including cases with improved technique. METHODS: Included were 45 consecutive infants (aged <90 days) with CAS and selected for biventricular repair who underwent hybrid balloon valvuloplasty in a hybrid or ordinary operating room from October 2010 to March 2016. Patients were assessed at 1, 3, 6, and 12 months and yearly thereafter. RESULTS: Hybrid balloon valvuloplasty was successful in all patients, with the last 8 treated in an ordinary operating room under only echocardiography guidance with a new sheath. Thirty-two patients were successfully rescued from low heart rate or left ventricular systolic dysfunction, or both, by cardiac massage under direct visualization; none required cardiopulmonary bypass. The degree of new aortic insufficiency was mild in 7 patients and changed from mild to moderate in 1 patient. Aortic valve pressure gradient decreased from 70.6 ± 17.5 mm Hg preoperatively to 15.2 ± 4.2 mm Hg immediately postoperatively (p < 0.001). Fluoroscopy time was 4.8 ± 2.3 minutes. At a median of 32.1 months (range, 1 to 68 months) follow-up, all patients were alive and healthy. Aortic valve pressure gradient remained low (19.1 ± 5.2 mm Hg). Left ventricular ejection fraction increased from 0.515 ± 0.134 (range, 0.21 to 0.70) preoperatively to 0.633 ± 0.035 (range, 0.58 to 0.75; p < 0.001). No aortic insufficiency developed, and no patient required reintervention. CONCLUSIONS: For infants with severe CAS, hybrid balloon valvuloplasty through the ascending aorta by way of a median sternotomy appears efficacious and safe up to midterm follow-up.

Biventricular Repair of Double Outlet Right Ventricle: Preoperative Echocardiography and Surgical Outcomes.

OBJECTIVE: To discuss the key anatomic features of double outlet right ventricle (DORV) assessed by preoperative echocardiography among patients treated with different types of biventricular repair. METHODS: Surgical and echocardiographic databases were queried to identify patients who had undergone biventricular repair for DORV and had adequate preoperative echocardiographic imaging. All patients underwent pre- and postoperative echocardiography and clinical evaluation following discharge. RESULTS: Two hundred sixty-two patients with DORV met the inclusion criteria of the study. The patients were divided into two groups-intraventricular tunnel repair (IVR) to the aorta (194 [74%] patients) or to the pulmonary artery with either concomitant arterial switch operation or double-root translocation (68 [26%] patients). Among 68 patients undergoing IVR to the pulmonary artery, 50 patients with transposition of the great arteries (TGA) type of DORV and 7 patients with remote ventricular septal defect (VSD) type underwent IVR plus arterial switch operation and 6 patients with TGA type and 5 patients with remote VSD type underwent IVR plus double-root translocation. There were three hospital deaths and one late death (overall operative mortality: 1.5%). CONCLUSION: Preoperative echocardiography provided crucial data to estimate the feasibility of intraventricular tunnel creation to either the aorta or the pulmonary artery and to guide the selection of either arterial switch or double-root translocation. Biventricular repair could be achieved with favorable outcomes in most patients with DORV.

Echocardiographic Classification and Surgical Approaches to Double-Outlet Right Ventricle for Great Arteries Arising Almost Exclusively from the Right Ventricle.

Selecting an appropriate surgical approach for double-outlet right ventricle (DORV), a complex congenital cardiac malformation with many anatomic variations, is difficult. Therefore, we determined the feasibility of using an echocardiographic classification system, which describes the anatomic variations in more precise terms than the current system does, to determine whether it could help direct surgical plans. Our system includes 8 DORV subtypes, categorized according to 3 factors: the relative positions of the great arteries (normal or abnormal), the relationship between the great arteries and the ventricular septal defect (committed or noncommitted), and the presence or absence of right ventricular outflow tract obstruction (RVOTO). Surgical approaches in 407 patients were based on their DORV subtype, as determined by echocardiography. We found that the optimal surgical management of patients classified as normal/committed/no RVOTO, normal/committed/RVOTO, and abnormal/committed/no RVOTO was, respectively, like that for patients with large ventricular septal defects, tetralogy of Fallot, and transposition of the great arteries without RVOTO. Patients with abnormal/committed/RVOTO anatomy and those with abnormal/noncommitted/RVOTO anatomy underwent intraventricular repair and double-root translocation. For patients with other types of DORV, choosing the appropriate surgical approach and biventricular repair techniques was more complex. We think that our classification system accurately groups DORV patients and enables surgeons to select the best approach for each patient's cardiac anatomy.

Perventricular device closure of perimembranous ventricular septal defect: effectiveness of symmetric and asymmetric occluders.

Objectives: To assess safety and effectiveness of symmetric and asymmetric occluders in perventricular device closure without cardiopulmonary bypass of perimembranous ventricular septal defects (pmVSDs). Methods: The present retrospective study enrolled 581 patients who underwent perventricular device closure of pmVSDs under transoesophageal echocardiography guidance from May 2011 to April 2016, and outpatient electrocardiography and transthoracic echocardiography assessments at 1, 3, 6 and 12 months, and yearly thereafter. Results: The overall success rate of device implantation was 92.6% (43 surgical conversions immediately). Between patients receiving symmetric ( n = 353) and asymmetric ( n = 185) occluders, there were no significant differences in age, weight and defect diameter distributions; however, both before discharge and at mean 28.6 ± 21.2 (range, 1-60)-month follow-up, the symmetric group had lower rates of trivial residual shunt (5.7% vs 11.4%, P = 0.018; and 0.8% vs 5.9%, P = 0.001) and bundle branch block (0.8% vs 5.4%, P = 0.002; and 0.6% vs 3.8%, P = 0.009); and at follow-up, the asymmetric group had lower residual shunt (47.6% vs 85.0%, P = 0.020) and similar branch block (30.0% vs 33.3%, P = 1.000) disappearance rates. There were no severe complications, i.e. aortic regurgitation, malignant arrhythmias, haemolysis or device dislocation. Conclusions: Perventricular device closure of pmVSDs appears safe and effective with symmetric and asymmetric occluders. However, the lower residual shunt disappearance and higher branch block incidence rates for asymmetric occluders would favour more proactive conversion to surgical repair immediately when residual shunt is present intraoperatively.

First-in-Human Percutaneous Balloon Pulmonary Valvuloplasty Under Echocardiographic Guidance Only.

OBJECTIVE: The objective of this study was to assess the feasibility of percutaneous balloon pulmonary valvuloplasty (PBPV) under echocardiographic guidance only. SETTING: PBPV has become the preferred choice for pulmonary valve stenosis (PS). We report the first-in-human successful PBPV under only echocardiography guidance for isolated PS. METHODS: From March 2013 to December 2014, 34 patients with congenital PS underwent PBPV with echocardiography as the only imaging modality in the ordinary operation room or catheter lab. Outpatient follow-up including chest radiography, electrocardiography, and transthoracic echocardiography (TTE) was conducted at 1, 3, 6, and 12 months. RESULTS: All 34 patients successfully underwent PBPV under echocardiography guidance without radiation and contrast agent. The pulmonic transvalvular pressure gradient dropped from 62.8 ± 10.1 mm Hg to 14.7 ± 4.2 mm Hg measured on catheterization (P < .05). The balloon diameter/pulmonary annulus diameter ratio was 1.34 ± 0.07. Slight regurgitation of the pulmonary valve occurred in five patients and mild pulmonary regurgitation occurred in one patients. The pulmonic transvalvular pressure gradient measured on TTE 12 months after the procedure was 14.1 ± 4.6 mm Hg. No pericardial effusion and peripheral vascular complications occurred. CONCLUSION: This study demonstrated that PBPV can be successfully performed under only echocardiography guidance and appears safe and effective while avoiding radiation and contrast agent use.

Transthoracic Echocardiography-Guided Percutaneous Patent Ductus Arteriosus Occlusion: A New Strategy for Interventional Treatment.

INTRODUCTION: Percutaneous patent ductus arteriosus (PDA) occlusion has become the preferred therapeutic option, which uses fluoroscopy as the guidance. To reduce the x-ray exposure, PDA occlusion using the Amplatzer Duct Occluder II (ADO II) under guidance of transthoracic echocardiography only was conducted. This single center study aims to access the safety and efficiency of this new strategy. METHODS AND RESULTS: From June 2013 to May 2015, 63 consecutive PDA patients underwent transthoracic echocardiography-guided PDA occlusion through the femoral artery. Outpatient follow-up was conducted at 1, 3, and 6 months, and yearly. Sixty-two patients successfully underwent echocardiography-guided percutaneous PDA occlusion. One patient was converted to minimally invasive transthoracic occlusion due to failure of delivery sheath passage through tortuous PDA. Mean procedure duration was 24.3 ± 7.0 minutes; ADO II diameter averaged 4.6 ± 0.9 mm; 8 cases showed traces of residual shunt immediately after operation which resolved after 24 hours; and mean hospital stay was 3.4 ± 0.5 days. There was no occluder migration, hemolysis, pericardial effusion, pulmonary branch or aortic stenosis at mean 13.5 ± 4.8 months follow-up. CONCLUSIONS: This study demonstrated that percutaneous PDA occlusion can be successfully performed under guidance of transthoracic echocardiography only and appears safe and effective while avoiding radiation and contrast agent use.

Surgical Treatment of Secondary Tricuspid Regurgitation: Insight Derived From Annulus Sizes and Tethering Distances.

BACKGROUND: The main goal of this study was to explore the feasibility of stratifying patients with secondary tricuspid regurgitation (TR) into different risk levels, and to compare the surgical outcomes of patients within different risk levels who underwent different tricuspid valve repair (TVP) approaches. METHODS: One hundred and one patients with left-sided valvular disease underwent either left-sided valvular replacement or repair, and 79 patients underwent concomitant TVP. Depending upon their tricuspid annulus diameter and tethering distances, the patients were assessed using 4 risk levels. The different surgical approaches were used in patients within different risk levels. RESULTS: Among the 101 patients, there were 32 patients within risk level I, 28 within risk level II, 20 within risk level III, 21 within risk level IV. In the first risk level, the patients with untreated tricuspid valves had no or mild TR after surgery. In the second and third risk levels, the patients treated with a modified De Vega procedure had mild TR at follow-up. In the fourth risk level, the patients treated with undersized annuloplasty rings exhibited an improved outcome. CONCLUSIONS: The evaluation of both tricuspid annular diameter and tethering distance may help clinicians to stratify patients with secondary TR into different risk levels as a means of choosing an optimal TVP approach. The application of a modified De Vega procedure or an undersized annuloplasty ring in patients within appropriate risk level could improve the treatment for secondary TR.

Percutaneous Closure of Atrial Septal Defects Under Transthoracic Echocardiography Guidance Without Fluoroscopy or Intubation in Children.

OBJECTIVE: Demonstrate the benefits of percutaneous atrial septal defect (ASD) closure under guidance of transthoracic echocardiography (TTE) without fluoroscopy. METHODS: From February 2013 to April 2014, 127 consecutive patients with an isolated type II ASD were recruited to undergo percutaneous closure under either TTE (n = 60, TTE group) or TEE (n = 67, TEE group) guidance. The TTE group received local anesthesia or sedation with propofol, and the TEE group received general anesthesia with endotracheal intubation. Follow-up examinations were performed for both groups at 1 month, 3 months, 6 months, and 1 year after discharge and annually thereafter. RESULTS: The TTE group had a significantly shorter procedure time and respirator ventilation duration than the TEE group. The dose of propofol required, the cost, and the pharyngeal complication rate were significantly lower in the TTE group than in the TEE group. The median follow-up of 11.6 months was uneventful in all patients. CONCLUSIONS: Percutaneous ASD closure with TTE guidance as the only imaging tool avoids fluoroscopy, endotracheal intubation, and probe insertion and is associated with a satisfactory procedural success rate and lower costs. This procedure is a safe and reliable treatment for ASD.

Hybrid balloon valvuloplasty through the ascending aorta via median sternotomy in infants with severe congenital valvular aortic stenosis: feasibility of a new method†.

OBJECTIVES: To evaluate a novel hybrid balloon valvuloplasty procedure for severe congenital valvular aortic stenosis in low-weight infants, performed through the ascending aorta via median sternotomy. METHODS: Eighteen infants (<90 days of age) with severe congenital aortic stenosis were included in this study. Hybrid balloon valvuloplasty procedures were performed in a hybrid operating room. Patients were followed up at 3 months, 6 months, 1 year and then annually following the procedure. RESULTS: The hybrid balloon valvuloplasty procedure was successful in all patients. Eight patients were successfully rescued from left ventricular systolic dysfunction by cardiac compression under direct vision. The aortic valve pressure gradient decreased from 80.3 ± 20.8 mmHg preoperatively to 16.0 ± 3.6 mmHg immediately postoperatively (P < 0.001). None of the patients developed significant aortic insufficiency. The fluoroscopy time was 6.2 ± 2.9 min. Intraoperative blood transfusions and pacing were not required. The patients were all alive and healthy at the end of the follow-up period (mean 21.3 months; range 3-41 months), and the aortic valve pressure gradient remained low (21.7 ± 5.3 mmHg). Reintervention was not required in any of the patients. CONCLUSIONS: Hybrid balloon valvuloplasty through the ascending aorta via median sternotomy is an effective and safe procedure for infants with severe congenital aortic stenosis.

[Safety and efficacy of percutaneous transcatheter closure of atrial septal defect under transesophageal echocardiography guidance in children].

OBJECTIVE: To assess the safety and effectiveness of percutaneous transcatheter closure of atrial septal defect (ASD) under transesophageal echocardiography (TEE) guidance in children. METHODS: The study included 20 cases of patients with ASD. The patients were (4.2 ± 1.2) years old and the mean body weights were (18.2 ± 4.2) kg. The diameter of ASD before closure was (13.4 ± 3.3) mm . All procedures were guided under TEE. Procedure success was evaluated by TEE immediately after procedure. RESULTS: Closure devices were successfully implanted in all 20 patients under TEE guidance. The diameter of closure devices was 14-26 mm. There were no procedure related complications. The ventilation time was (2.9 ± 0.8)h and the hospitalization time was (3.2 ± 0.7) days. CONCLUSION: TEE guided percutaneous transcatheter closure is safe and effective for patients with ASD and avoids the radiation damages.

[Screening study of pulmonary arterial hypertension in patients with congenital heart diseases].

OBJECTIVE: To determine the prevalence and influencing factors of pulmonary arterial hypertension (PAH) in patients with congenital heart disease (CHD). METHODS: Between May 2007 and December 2008, a total of 692 CHD patients admitted into Fuwai Hospital were prospectively enrolled. Doppler echocardiography was employed to measure the level of pulmonary artery systolic pressure (PASP). PAH occurred when there was an increase in PASP > 40 mm Hg (1 mm Hg = 0.133 kPa) at rest. Eisenmenger syndrome was defined when there was a reversed (pulmonary-to-systemic) or bidirectional shunt. The clinical characteristics between the patients with/without PAH and Eisenmenger syndrome were compared and their risk factors analyzed with a multivariate Logistic model. RESULTS: The underlying conditions included atrial septal defect (n = 187, 27.0%), ventricular septal defect (n = 456, 65.9%) and patent ductus arteriosus (n = 49, 7.1%). The numbers of patients with PAH-CHD and Eisenmenger syndrome were 329 (47.5%) and 105 (15.2%) respectively. Among the PAH-CHD patients, 31.9% of them had Eisenmenger syndrome. The patients with large shunts were at an elevated risk of PAH. Logistic regression analysis showed that advanced age was an independent risk factor of PAH (OR = 1.04, P < 0.001). Compared with atrial septal defect, ventricular septal defect and patent ductus arteriosus increased the risks of PAH (OR = 2.78, P < 0.001 and OR = 2.50, P < 0.001 respectively). CONCLUSIONS: PAH is a common complication in CHD patients. And ventricular septal defect is the most common pathogenic type of PAH. Advanced age, ventricular septal defect and patent ductus arteriosus are the risk factors of PAH.