Mild Regurgitation Research Articles

Noninvasive Assessment of Cardiopulmonary Hemodynamics Using Cardiovascular Magnetic Resonance Pulmonary Transit Time.

Introduction: Pulmonary transit time (PTT) is the time it takes blood to pass from the right ventricle to the left ventricle via the pulmonary circulation, making it a potentially useful marker for heart failure. We assessed the association of PTT with diastolic dysfunction (DD) and mitral valve regurgitation (MVR). Methods: We evaluated routine stress perfusion cardiovascular magnetic resonance (CMR) scans in 83 patients including assessment of PTT with simultaneously available echocardiographic assessment. Relevant DD and MVR were defined as exceeding Grade I (impaired relaxation and mild regurgitation). PTT was determined from CMR rest perfusion scans. Normalized PTT (nPTT), adjusted for heart rate, was calculated using Bazett's formula. Results: Higher PTT and nPTT values were associated with higher grade DD and MVR. The diagnostic accuracy for the prediction of DD as quantified by the area under the ROC curve (AUC) was 0.73 (CI 0.61-0.85; p = 0.001) for PTT and 0.81 (CI 0.71-0.89; p < 0.001) for nPTT. For MVR, the diagnostic performance amounted to an AUC of 0.80 (CI 0.68-0.92; p < 0.001) for PTT and 0.78 (CI 0.65-0.90; p < 0.001) for nPTT. PTT values < 8 s rule out the presence of DD and MVR with a probability of 70% (negative predictive value 78%). Conclusion: CMR-derived PTT is a readily obtainable hemodynamic parameter. It is elevated in patients with DD and moderate to severe MVR. Low PTT values make the presence of DD and MVR-as assessed by echocardiography-unlikely.

Bilateral Upper Limb Congenital Anomalies in a Neonate: A Case Report

Congenital anomalies are diverse in nature and can affect multiple organ systems, posing significant diagnostic and management challenges. Among these, nubbins, characterised by the absence or underdevelopment of distal terminal phalanges, present a rare clinical finding. The present case report discusses a neonate born via normal vaginal delivery who demonstrated immediate cries upon birth. The patient’s clinical presentation led to a series of diagnostic investigations. The absence of distal terminal phalanges in both hands was concerning; however, radiographs of the forearms showed normal structural findings. The detection of mild Developmental Dysplasia of the Hip (DDH) on hip Ultrasonography (USG) necessitated regular monitoring with USG and radiographs of both hips to ensure proper hip joint development. The USG of the spine revealed no anomalies, which was reassuring. The most significant finding came from the Echocardiogram (ECHO), which identified a small ostium secundum Atrial Septal Defect (ASD) with mild tricuspid regurgitation and pulmonary hypertension. The present case underscores the importance of ongoing research and collaboration in advancing our understanding and management of rare congenital anomalies.

Five-Year Follow-Up from the CoreValve Expanded Use Transcatheter Aortic Valve-in-Surgical Aortic Valve Study

Transcatheter aortic valve replacement (TAVR) provides an option for extreme-risk patients who underwent reoperation for a failed surgical aortic bioprosthesis. Long-term data on patients who underwent TAVR within a failed surgical aortic valve (TAV-in-SAV) are limited. The CoreValve Expanded Use Study evaluated patients at extreme surgical risk who underwent TAV-in-SAV. Outcomes at 5 years were analyzed by SAV failure mode (stenosis, regurgitation, or combined). Echocardiographic outcomes are site-reported. TAV-in-SAV was attempted in 226 patients with a mean age of 76.7 ± 10.8 years; 63.3% were male, the Society of Thoracic Surgeons predicted risk of mortality score was 9.0 ± 6.7%, and 87.5% had a New York Heart Association classification III or IV symptoms. Most of the failed surgical bioprostheses were stented (81.9%), with an average implant duration of 10.2 ± 4.3 years. The 5-year all-cause mortality or major stroke rate was 47.2% in all patients; 54.4% in the stenosis, 37.6% in the regurgitation, and 38.0% in the combined groups (p = 0.046). At 5 years, all-cause mortality was higher in patients with versus without 30-day severe prosthesis-patient mismatch (51.7% vs 38.3%, p = 0.026). The overall aortic valve reintervention rate was 5.9%; highest in the regurgitation group (12.6%). The mean aortic valve gradient was 14.1 ± 9.8 mm Hg and effective orifice area was 1.57 ± 0.70 at 5 years. Few patients had >mild paravalvular regurgitation at 5 years (5.5% moderate, 0.0% severe). TAV-in-SAV with supra-annular, self-expanding TAVR continues to represent a safe and lasting intermediate option for extreme-risk patients who have appropriate sizing of the preexisting failed surgical valve. Clinical and hemodynamic outcomes were stable through 5 years.

Exercise Capacity and Clinical Outcomes in Chronic Heart Failure Patients with Mild Tricuspid Regurgitation

Aim: The present study aimed to investigate the impact of mild tricuspid regurgitation (TR) on the exercise capacity or clinical outcomes in patients with chronic heart failure (CHF). Methods and Results: The study enrolled 511 patients with CHF who underwent cardiopulmonary exercise testing (CPET) between 2013 and 2018. The primary outcome was a composite of heart failure hospitalization and death. Patients with mild TR (n = 324) or significant TR (moderate or greater; n = 60) displayed worse NHYA class and reduced exercise capacity on CPET than those with non-TR (n = 127), but these were more severely impaired in patients with significant TR. A total of 90 patients experienced events over a median follow-up period of 3.3 (interquartile range 0.8–5.5) years. Patients with significant TR displayed a higher risk of events, while patients with mild TR had a 3.0-fold higher risk of events than patients with non-TR (hazard ratio (HR) 3.01; 95% confidence interval (CI), 1.50–6.07). Multivariate Cox regression analysis showed that, compared with non-TR, mild TR was associated with increased adverse events, even after adjustment for co-variates (HR 2.97; 95% CI, 1.35–6.55). Conclusions: TR severity was associated with worse symptoms, reduced exercise capacity, and poor clinical outcomes. Even patients with mild TR had worse clinical characteristics than those with non-TR.

Prognostic value of the severity of tricuspid regurgitation on Doppler echocardiography in patient with heart failure with reduced ejection fraction

Background: Tricuspid regurgitation severity has recently gained attention as a prognostic predictor of outcome events in patients who have leftsided heart failure. This study sought to define the relationship between tricuspid regurgitation and outcome in patients with heart failure with reduced ejection fraction. Objective: To investigate the characteristics of tricuspid regurgitation by Doppler echocardiography in patients with heart failure and reduced ejection fraction. To explore the association between the severity of tricuspid regurgitation and short-term mortality and hospital readmission in the study patients. Methods: 116 heart failurereduced ejection fraction patients were enrolled in this study, followed up, and evaluated after 3 - 6 months. Results: 48.3% of patients have mild tricuspid regurgitation, 33.6% of patients have moderate tricuspid regurgitation, and 18.1% of patients have severe tricuspid regurgitation. 47 events (40.5%) occurred: 11 deaths (9.5%) and 38 readmissions (32.8%). A Kaplan - Meier curve showed that the survival rate of the severe tricuspid regurgitation group was significantly lower than the group with mild to moderate tricuspid regurgitation. A multivariate Cox regression model identified that tricuspid regurgitation severity was an independent predictor of 3-to-6-month mortality or readmission (HR 1.94; CI 95% 1.30 - 2.91). Conclusion: Tricuspid regurgitation severity was an independent predictor of reduced ejection fraction in patients with heart failure.

Case Report: Mutation in TNNI3(c. 544G&gt;A): a novel likely pathogenic mechanism of neonatal dilated cardiomyopathy

BackgroundDilated cardiomyopathy (DCM) is a rare disease that causes heart failure due to malfunction of the heart muscle characterized by left ventricular dilation and poor systolic function. Genetic screening leads to advantages in early diagnosis and prognostic assessment of patients with suspected inherited cardiomyopathies. Here, we report a case of neonatal dilated cardiomyopathy due to a mutation of the TNNI3 gene, which has not been published in neonatal dilated cardiomyopathy before.Case presentationThe patient was a 22-day-old newborn boy with poor ability to respond to stimuli, presenting with shortness of breath over 11 days. He presented with irregular fever, tachypnea, difficulty in ventilator withdrawal, and mild edema of both lower limbs, and III/6SM could be heard in the precardiac area. He presented repeated weaning difficulties during hospitalization with intractable low EF heart insufficiency. Doppler echocardiography showed refractory low ejection fraction, cardiac enlargement, cardiac insufficiency, mild pulmonary hypertension, and mitral and tricuspid insufficiency with mild valve regurgitation. Whole-exome sequencing showed a mutation in the TNNI3 gene, c. 544G&amp;gt;A (p.Glu182Lys). Thus, he was diagnosed with neonatal DCM. There was no mutation in the parents, the child died 2 weeks after discharge.ConclusionsTNNI3 mutation is a novel likely pathogenic mechanism of neonatal dilated cardiomyopathy. Therefore, systematic use of diagnostic tools, advanced risk models, and a deeper understanding of the mechanism are required to reduce morbidity and mortality in this disease.

Surgical Treatment Methods for Tricuspid Valve Infective Endocarditis

Introduction: In recent years, there has been a significant increase in the incidence of tricuspid valve infective endocarditis (IE), which is associated with both the increased number of invasive examinations and procedures and the high rates of intravenous drug use. The initial treatment for tricuspid valve IE was surgical removal of the focus of infection and restoration of intracardiac hemodynamics.Reconstructive surgery aimed at preserving the valve is the preferred method of surgical treatment. If a valve-­preserving operation is not possible due to significant valvular apparatus destruction, implantation of artificial heart valves (both mechanical and biological) is the method of choice.Objective: To analyze the results of reconstructive valve-­preserving surgery and tricuspid valve replacement for tricuspid valve IE treatment.Materials and methods: In the Scientific Research Institute – Specialized Cardiac Surgery Clinical Hospital named after Academician B.A. Korolev (Nizhny Novgorod, Russian Federation) 110 patients underwent surgery for tricuspid valve IE. Primary surgery was performed in 97 patients, and 13 patients underwent repeated surgery. The patients were divided into 2 groups based on the chosen surgical method for correcting tricuspid valve disease. Group 1 included 62 patients who successfully underwent tricuspid valve replacement: mechanical prostheses in 10 patients and biological prostheses in 52 patients. Group 2 included 38 patients who underwent reconstructive valve­preserving surgery. All patients underwent De Vega annuloplasty. In 10 patients it was directly associated with bicuspidalization of the tricuspid valve and plastic surgery of intact leaflets. Two patients had suture annuloplasty of the tricuspid valve based on the modified technique. In 2 of 3 patients, an infected right atrial thrombus was removed. Three patients underwent removal of the left ventricular wall abscess and aortic valve replacement for critical stenosis. After translocation of the chords, triangular resection of the anterior leaflet was performed to separate the chord of the left side of the chest and the myxoma of the right and left chest.Results: In the early postoperative period, no valve­related complications were observed in group 1. The most common nonlethal complication was a third­-degree atrioventricular block. Multiple organ dysfunction syndrome occurred in 3 patients; cardiac tamponade was reported in 2 patients, and 1 patient had postoperative bleeding that required resternotomy for serous mediastinitis in the mid­term period and reosteosynthesis. At the hospital stage, 1 patient from group 1 died, whereas there were no deaths in group 2. In­-hospital mortality in the groups of operated patients was 0.9%.Functional ultrasound imaging findings in the postoperative period show that patients from group 1 had the peak gradient across the prosthetic tricuspid valve of 9.4 ± 1.8 mm Hg, while the mean gradient was 5.8 ± 1.75 mm Hg. There was a significant decrease in the estimated right ventricle pressure from 54.0 ± 16.2 to 35.0 ± 5.5 mm Hg. In group 2 tricuspid valve regurgitation was not observed in 27 patients, while mild and moderate regurgitation was reported in 8 and 3 patients, respectively. The peak gradient during the tricuspid valve reconstruction was 6.2 ± 1.7 mm Hg, while the mean gradient was 2.8 ± 0.75 mm Hg. The annulus fibrosus size during tricuspid valve annuloplasty averaged 30.8 ± 2.5 (28­33) mm. There was a decrease in the right ventricle pressure from 44.0 ± 18.4 to 32.0 ± 7.3 mm Hg. In the mid-­term follow­up, surviving patients were classified as NYHA classes I­-II. Of 110 patients discharged from the clinic, we were able to trace the fate of 69 patients, which accounted for 62.7%. In the long-­term period, 3 patients from group 1 died. Thus, long­term mortality in the general group was 2.72%.Conclusions: Reconstructive surgery has significant advantages over tricuspid valve replacement using various artificial heart valve models: lower rates of in-­hospital and long­-term mortality and specific complications, higher quality of life. Compliance with principles and methods of pathogenetic treatment of electrode­induced IE guarantees a success in the cohort of severe patients. The technique of reconstruction and restoration of tricuspid valve structures and functions in case of active tricuspid valve IE with detachment of the chords and destruction of the leaflets demonstrated high surgical efficiency.

In patients with atrial cardiomyopathy long-lasting atrial fibrillation is associated with unfavorable structural changes in right chambers and worse outcome

Abstract Background The main factor responsible for atrial cardiomyopathy (ACM) is atrial fibrillation (AF). It is known that AF causes remodeling of the left atrium but its effects on the right heart chambers and mortality are not well studied. Purpose To assess the echocardiographic characteristics of patients with atrial cardiomyopathy with long-standing and paroxysmal AF and their impact on survival. Methods From 624 consecutive patients with AF only 173 met the inclusion criteria for atrial cardiomyopathy, defined as severely dilated left atrium with indexed left atrial volume (LAVI) &amp;gt;48 ml/m2, preserved left ventricular systolic function, without significant valvular disease or left ventricular hypertrophy. The mean age of the studied population was 73,7 ± 9,5 years, 59% women. The patients were divided into two groups according to the presence of persistent or permanent AF (long-standing AF) - Group 1 (n = 87) or paroxysmal AF - Group 2 (n = 86). All patients underwent a comprehensive echocardiography with volumetric and speckle tracking analysis on enrollment and were followed for cardiovascular outcomes, including mortality 24 months. Results The group with long-standing AF had more dilated right atrium (indexed right atrial volume- RAVI 41.9 ± 24.4 vs. 33 ± 13.5 ml/m2; P=0.003), lower reservoir strain of the right atrium (13.1% ± 8.6 vs. 19.7% ± 10.6; P&amp;lt;0.001) and lower right ventricular free wall strain (18.1% ±7.3 vs. 21.2% ± 7.1; P=0.006). Over a median follow up of 18 months (7-29) 16 patients (18%) from Group 1 died compared to 6 patients (7%) from Group 2 (P=0.022). The presence of more than mild tricuspid regurgitation (OR 4.53; CI: 2.37-8.67; P&amp;lt;0.001), heart failure (OR 3.44; 95% CI: 1.83-6.48; P&amp;lt;0.001), and long-standing AF (OR 3.00, 95% CI: 1.41-8.09; P=0.028) were associated with worse mid-term survival. Conclusion Patients with ACM and long-standing AF have more advanced structural changes of the right atrium and the right ventricle and worse prognosis. The presence of more than mild tricuspid regurgitation, heart failure, and long-standing AF are predictors of poor outcome.

Echocardiographic features predict the performance of transthoracic echocardiography in ruling out infective endocarditis: a 5-year study

Abstract Background Transoesophageal echocardiography (TOE) remains the gold standard imaging modality to aid in the diagnosis of infective endocarditis (IE), but is resource intensive and confers patient risk. Transthoracic echocardiography (TTE) is a more accessible alternative, but previous studies report varying ability of TTE to effectively rule out disease. As a result, negative TTE is often still followed with TOE when clinical suspicion remains. However, these studies did not account for TTE quality and other echocardiographic features within the TTE that may decrease its diagnostic utility and thereby reduce its ability to effectively rule out disease. Understanding the risk of missing IE for a given negative TTE could avoid the need for subsequent TOE. Purpose Our aim is to devise and test the validity of a scoring system which can stratify TTEs by quality to predict TTE performance and inform the decision for whether follow-up TOE is necessary. Methods In this retrospective single-centre study, the Predictor of TTE Performance (PTP) scoring system was developed and applied to patients undergoing both TTE and TOE for suspected IE at our tertiary centre between May 2017 and May 2022. Within the scoring system, a point was allocated for the presence of each of the following on TTE: a mobile echodensity; poor image quality; more than mild regurgitation; a prosthetic valve or prosthetic intracardiac material; and other valvular abnormalities. Poor image quality was defined as any TTE that was unable to achieve good endocardial visualisation from at least two views. Valvular abnormalities warranting a point included congenital abnormalities such as bicuspid aortic valve and acquired abnormalities such as rheumatic valvular disease, mitral valve prolapse and valvular stenosis. The negative predictive value (NPV) for TTEs in each score category was analysed using TOE as the gold standard. Results A total of 362 patients with paired TTE/TOE were included for analysis. 60 (16.6%) had positive TOE, with the overall NPV of TTE being 88.5% (95% CI: 84.6–91.5%). Using the PTP scoring system, patients were stratified into low-risk (score of 0, n = 116), moderate-risk (score of 1, n = 140) and high-risk (score greater than 1, n = 106) groups. Increasing PTP score was associated with poorer TTE performance, with the low-risk, moderate-risk and high-risk categories having NPVs of 98.3% (95% CI: 93.9–99.7%), 90.2% (95% CI: 83.9–94.2%) and 72.3% (95% CI: 61.8–80.8%) respectively. Conclusion The ability of TTE to exclude IE is excellent when patients have no echocardiographic features that reduce TTE quality or predict increased risk for endocarditis. In patients with a low PTP score, negative TTE may render follow-up TOE unnecessary.

Abstract 13177: The Association Between Insufficient Valve Expansion and Aortic Valve Calcification for Transcatheter Valve Implantation With Self-Expandable Valve

Background: Transcatheter aortic valve implantation (TAVI) has emerged as the preferred treatment for severe aortic stenosis. Nevertheless, severe calcification remains a factor leading to insufficient valve expansion and paravalvular leakage (PVL) after TAVI, mainly when using the self-expandable valve. We aimed to investigate the relationship between calcification and valve expansion using pre- and post-operative computed tomography (CT) scans, by comparing with valve phantoms as a reference standard. Methods: We enrolled 62 consecutive patients (mean age: 84.2 ± 4.4 years, 23 male) who underwent TAVI with the Evolut PRO+. We measured the aortic valve's calcium volume (Ca-Vol) by contrast-enhanced CT. The shorter diameter (mm) and the area (cm 2 ) of the base of the implanted valve were measured. We performed CT scans of valve phantoms for each size and defined the measured shorter diameter and the base area as the reference standard. We calculated the insufficiency of valve expansion as the ratio of the patient valve's shorter diameter and base area to that of the phantom valve. PVL was defined as more than mild regurgitation by transthoracic echocardiography. Results: The base area of valve phantoms was 3.6, 4.1, 6.4, and 8.4 cm 2 for 23, 26, 29, and 34 mm, respectively. The shorter diameter and base area of the implanted valve were 15.7 ± 2.6, 15.2 ± 2.8, 17.3 ± 4.0, 23.9 ± 1.8 mm, and 2.7 ± 0.7, 2.5 ± 0.6, 3.4 ± 1.0, and 6.2 ± 1.6 cm 2 for 23, 26, 29, and 34 mm (n=4, 31, 24, and 3, respectively). Significant inverse correlations were observed between Ca-Vol and shorter diameter ratio (r 2 = 0.1, P = 0.009), area ratio (r 2 = 0.1, P = 0.006), and PVL (r 2 = 0.4, P &lt; 0.001), respectively. On the other hand, there was no significant correlation between area ratio and PVL (r 2 = 0.004, P = 0.6). Conclusion: Severe calcification in the aortic valve was associated with insufficient valve expansion and PVL for the Evolut PRO+.

Abstract 16036: Concomitant Culture-Negative Left-Sided Native Valve Endocarditis With Splenic Emboli and Babesiosis: A Case Report

Description of Case: A 76-year-old man with type 2 diabetes and a previously drained hepatic abscess presented with 3 days of fevers and chills associated with dizziness, weakness, and fatigue after hiking at a New York State Park. He denied any shortness of breath, chest pain, abdominal pain, diarrhea, skin rashes, insect bites, IV drug use, recent travel or sick contacts but reported having dental work one month prior to admission. Initial vital signs were notable for a fever of 38.4°C with a blood pressure of 145/76, heart rate of 90, and physical examination was unremarkable. Extensive laboratory studies were drawn, which initially were notable for normocytic anemia, thrombocytopenia, low haptoglobin and elevated lactate dehydrogenase. Empiric antibiotics were initiated as the patient met criteria for systemic inflammatory response syndrome (SIRS). CT abdomen and pelvis was remarkable for right-sided spleen with polysplenia and multiple peripheral wedge-shaped splenic infarcts. A transthoracic echocardiogram (TTE) was inconclusive for infective endocarditis (IE). A subsequent transesophageal echocardiogram (TEE) showed vegetations on the aortic and mitral valves with mild regurgitation respectively. After cardiothoracic surgery evaluation, he was deemed not a surgical candidate. Blood and urine cultures remained negative, but the Babesia antibodies IgM and IgG antibodies, and Babesia microti PCR was detected. He was started on atovaquone 750 mg twice daily and azithromycin 250 mg once daily for 10 days for babesiosis. He was discharged on vancomycin 1g every 12 hours and ceftriaxone 2g every 24 hours for a total of 6 weeks for empiric IE treatment given splenic emboli. Discussion : We describe a rare case of fever caused by culture-negative mitral and aortic valvular endocarditis with splenic emboli and babesiosis. Recent dental work and hiking outdoors in the Northeast United States of America were the key predisposing factors. Given splenic infarcts, pursuing a TEE was pivotal in ascertaining the diagnosis. The patient received empiric IE treatment for gram-positive cocci, HACEK organisms and babesiosis with improvement of symptoms. Identifying and treating unusual causes of fever and SIRS are crucial in reducing mortality and morbidity.

Abstract 18453: Giant Right Atrial Lipoma Inducing Atrial Flutter and Tachycardia-Mediated Cardiomyopathy: The Value of Multimodality Cardiac Imaging

Case Presentation: A 60-year-old male who presented with progressive dyspnea on exertion and atrial flutter with rapid ventricular response. His TTE showed a large (5.1 x 3.9 cm) right atrial (RA) mass occupying 80% of a severely dilated RA attached to the lateral wall (Fig A) and severe global LV hypokinesis with an ejection fraction of 20 - 25%. A TEE was then performed to further characterize this mass and showed a large (6.3 x 5.5 x 3.7 cm), heterogeneously echoreflectant, bi-lobed, and partially mobile RA mass attached to the lateral wall (Fig B,C) just below the superior vena cava and extending near the tricuspid valve annulus with sparing of the leaflets and only mild tricuspid regurgitation. At last, a chest CT scan showed a large (5.5 x 4.5 x 3.3 cm) mass which was tissue characterized as RA lipoma (Fig D). Therefore, patient underwent an uncomplicated surgical resection of the mass with partial removal of RA free wall (Fig D,E) repaired with a pericardial patch. Pathology confirmed a RA lipoma. Patient’s atrial flutter was then ablated, and patient was discharged home in stable condition. Discussion: This case illustrates an unreported cavitary giant RA lipoma inducing atrial flutter and tachycardia-mediated cardiomyopathy and emphasizes the importance of multimodality cardiac imaging in its diagnosis and management. Cardiac lipomas are rare benign tumors usually of small size and therefore mostly incidentally detected. They can rarely lead to embolization, conduction abnormalities, and flow obstruction requiring surgical resection. In this patient, pre-operative echocardiography and CT imaging were critical in the assessment of the tumor size, tissue characterization, location, motion, relation or extension to other cardiac structures, and obstruction or dysfunction of heart valves. Pre-and-intraoperative echocardiography were also essential in planning and performing the successful surgical resection of the RA lipoma.

Abstract 13652: Machine Learning Prediction of RV End-Diastolic Volume in Patients With Pulmonary Regurgitation

Introduction: RV end-diastolic volume (RVEDV) by cardiac MRI (cMRI) guides intervention in congenital heart disease. Guideline directed linear and area measurements from two-dimensional echocardiography (2DE) have poor univariable linear correlation with RVEDV. We hypothesized that non-linear modeling of 2DE RV measurements may predict cMRI volume. Aims: We sought to develop a prediction algorithm for RVEDV from guideline-directed RV 2DE measurements. Methods: Patients from 2009 to 2022 with &gt; mild pulmonary regurgitation and cMRI +/- 3 months were included. 2DE measurements were: RV end-diastolic (RVED) apical 4-chamber area, basal RVED diameter (d), mid RVED d, tricuspid annulus d, RVED length; PSLAX proximal RVOT d; PSSAX proximal RVOT d, distal RVOT d. A gradient-boosting decision trees algorithm (XGBoost) regressed cMRI RVEDV (mL) using 2DE inputs (including missing data) with leave-one-out crossvalidation. Predicted RVEDV was BSA-indexed to examine performance at clinical threshold 150 mL/m 2 . Intraclass correlation coefficient (ICC) in 30 samples was measured. Results: Of 243 subjects (median age 21 [IQR 16-31] y, 58% tetralogy of Fallot, 22% congenital pulmonary stenosis s/p intervention), 19% had cMRI RVEDV &gt; 150 mL/m 2 . Missing ranged from 5% (basal RVED d) to 17% (PSSA proximal RVOT), and ICC ranged from 0.46 (basal RVED d) to 0.78 (tricuspid annulus). Mean absolute error was 40 mL (27 mL/m 2 ). At the predicted threshold 150 mL/m 2 had 39% sensitivity, 87% specificity, 40% positive predictive value, and 86% negative predictive value for true RV dilation. Conclusion: Prediction of RVEDV from guideline recommended 2DE RV measurements is possible. Detection of clinically significant RV dilation has low sensitivity but may be helpful in ruling out cases. Sources of error include interrater variability and missing data due to poor visualization of the RV on 2DE. Future work to develop a consistent and informative feature set for modeling is required.

Abstract 12344: Effect of Valved versus Non-Valved Conduits in Norwood Procedure on Ventricular Size and Function in Stage I Palliation for Hypoplastic Left Heart Syndrome

Background: Mortality in the interstage period remains high in hypoplastic left heart syndrome (HLHS) after introduction of the right ventricle (RV) to pulmonary artery conduit to the Norwood procedure. Prior studies have not shown long term survival benefit with conduits, possibly due to regurgitation and volume load, which may cause decreased RV function. Valved conduits (VC) were introduced more recently to address these limitations. Hypothesis: The goal of the study was to assess differences in RV size and function during the interstage period between patients undergoing Norwood procedure with valved versus non-valved conduits (NVC). We hypothesized that patients with VC would have smaller increases in RV size and improved function compared to those with NVC. Methods: Twenty-five consecutive neonates with HLHS who underwent Norwood procedure with VC were compared to 25 consecutive neonates who underwent Norwood with NVC from 2013 and 2022. Primary outcomes were RV size measured by end diastolic area (EDA) on 4-chamber images and function measured by RV fractional area change and global longitudinal strain. Results: Most patients with VC (96%) did not develop more than mild conduit regurgitation. There was no difference in EDA increase one month post op between groups, but there was a significantly smaller increase in EDA pre-Glenn compared to baseline in the VC group (Table 1). Functional measures were not significantly different during follow up. There was no difference in interstage cardiac events or mortality. Conclusions: Patients with VC at time of Norwood had smaller increases in ventricular size compared to those with NVC, but there were no differences in functional parameters during follow up. It is possible decreased volume load will have a beneficial long term effect on the immature myocardium of infants with HLHS. Larger studies are needed to further examine the hemodynamic benefits of VC in the interstage period and throughout the stages of palliation.

A midterm follow-up study of the application of a confluent aortic valve neocuspidization technique with pericardium in children.

The treatment of aortic valve diseases in children remains a great challenge. We aim to report outcomes and midterm follow-up data of our confluent neocuspidization technique with pericardium for aortic valve replacement (AVR) in children. A retrospective analysis was performed on all 20 children who underwent the confluent neocuspidization technique with pericardium at Children's Hospital of Fudan University from March 2017 to May 2022. Outcome measures included echocardiographic measurements, surgical intervention, and mortality. A total of 20 patients (17 males vs. 3 females), with a median age of 7.5 years [min-max, 0.3-12 years; interquartile range (IQR), 4.4-9.7 years], a median body weight of 24.0 kg (min-max, 6.0-52.3 kg; IQR, 15.6-31.0 kg), and median aortic valve annulus size before surgery of 19.0 mm (min-max, 11.0-25.0 mm; IQR, 17.1-21.5 mm), underwent the neocuspidization technique with pericardium (17 autologous pericardia and 3 bovine patch). With 50% of bicuspid aortic valve and 50% of tricuspid, they were respectively diagnosed as aortic stenosis (AS) (7/20, 35%), aortic regurgitation (AR) (8/20, 40%) and mixed AS and AR (AS & AR) (5/20, 25%). The median postoperative follow-up time was 19 months (min-max, 5-61 months; IQR, 16.3-35 months). The peak pressure gradient across the aortic valve decreased from 81.0±37.0 mmHg in AS group and AS & AR group before surgery to 25.9±15.8 mmHg within 24 hours after surgery (P<0.001) and was mostly around 25 mmHg during follow-up. All patients presented mild or less than mild regurgitation within 24 hours after surgery. There were no hospital mortalities. Three patients needed reintervention during follow-up. There was one late death related to mitral valve stenosis. Though the confluent neocuspidization technique with pericardium provided immediate relief of significant AS or regurgitation, the midterm outcome was suboptimal. More research is needed to find the optimal material for AVR.

Triple repeated fetal congenital heart disease linked to PLD1 mutation: a case report

BackgroundCongenital heart disease occurs in approximately 1 in 100 cases. Although sibling occurrence is high (3–9%), the causative genes for this disease are still being elucidated. PLD1 (Phospholipase D1) is a recently discovered gene; however, few case reports have been published on it. In this report, we describe a case of triplicate fetal congenital heart disease that was diagnosed as a PDL1 mutation. Our objective is to explore the clinical manifestations of PLD1 mutations in this particular case.Case presentationA 32-year-old Japanese woman (gravida, para 0) was introduced since fetus four chamber view was not clear and was diagnosed with ductus arteriosus-dependent left ventricular single ventricle and pulmonary atresia at 21 weeks and 1 day of gestation during her first pregnancy. Artificial abortion using Gemeprost was performed at 21 weeks and 5 days of gestation. The second pregnancy was diagnosed as pulmonary atresia with intact ventricular septum with cardiomegaly, a cardiothoracic area ratio of more than 35%, and a circulatory shunt at 13 weeks and 3 days of gestation. Subsequently, intrauterine fetal death was confirmed at 14 weeks and 3 days of gestation. Regarding the third pregnancy, fetal ultrasonography at 11 weeks and 5 days of gestation showed mild fetal hydrops and moderate tricuspid valve regurgitation. At 16 weeks and 5 days of gestation, the fetus was suspected to have a left ventricular-type single ventricle, trace right ventricle, pulmonary atresia with intact ventricular septum, or cardiomyopathy. Cardiac function gradually declined at 26 weeks of gestation, and intrauterine fetal death was confirmed at 27 weeks and 5 days of gestation. The fourth pregnancy resulted in a normal heart with good progression and no abnormal baby. We submitted the first and second fetuses’ umbilical cord, third fetus’ placenta, and the fourth fetus’ blood to genetic testing using whole exome analysis with next generation sequencing. Genetic analysis identified hemizygous PLD1 mutations in the first, second, and third fetuses. The fourth fetus was heterozygous. In addition, the parents were heterozygous for PLD1. This case is based on three consecutive cases of homozygosity for the PLD1 gene in the sibling cases and the fetuses with recurrent right ventricular valve dysplasia. This will elucidate the cause of recurrent congenital heart disease and intrauterine fetal death and may serve as an indicator for screening the next fetus. To date, homozygous mutations in PLD1 that repeat three times in a row are not reported, only up to two times. The novelty of this report is that it was repeated three times, followed by a heterozygous live birth.ConclusionsThis report is consistent with previous reports that mutations in PLD1 cause right ventricular valve dysplasia. However, there have been few case reports of PLD1 mutations, and we hope that this report will contribute to elucidate the causes of congenital heart disease, especially right ventricular valve dysplasia, and that the accumulation of such information will provide more detailed information on PLD1 mutations in heart disease.

Survival and repair durability in patients undergoing concomitant aortic valve reimplantation and mitral valve repair

ObjectiveThe study objective was to determine repair durability and survival in patients with and without connective tissue disorders undergoing concomitant aortic valve reimplantation and mitral valve repair. MethodsFrom 2002 to 2019, 68 patients underwent concomitant aortic valve reimplantation and mitral valve repair, including 27 patients with Marfan syndrome (39.7%). Follow-up echocardiograms were analyzed using nonlinear multiphase mixed-effects cumulative logistic regression. The regurgitation grade over time was estimated by averaging patient-specific profiles. Survival and freedom from reoperation were estimated by the Kaplan–Meier method. ResultsAt 7 years, 11% of patients had aortic insufficiency greater than mild (severe in 2 patients). There was no difference in greater than mild aortic insufficiency between patients with or without Marfan syndrome (P = .37). Twenty percent of patients had progressed to mitral regurgitation greater than mild (severe in only 1 patient). The prevalence of recurrent mitral regurgitation was higher in those without Marfan syndrome, with greater than mild regurgitation increasing to 24% by 2 years and remaining constant thereafter (P = .04). Freedom from reoperation on the aortic valve or mitral valve was 83% at 10 years and did not differ between Marfan syndrome groups. There were no cases of perioperative mortality. Survival at 5 and 10 years was 94% and 87%, respectively, without a difference between those with and without Marfan syndrome. ConclusionsPatients can undergo a total repair strategy using combined aortic valve reimplantation and mitral valve repair procedures with a low risk of mortality and complications, with favorable freedom from both residual valve regurgitation and reoperation.

Right ventricular papillary muscle approximation to the septum as an adjunct technique during tricuspid valve repair in congenital heart surgery

ObjectiveTricuspid regurgitation is often caused by leaflet splaying from displaced papillary muscles or ventricular dilatation. Traditional annuloplasty may not address this mechanism. The present study describes a single institution's experience using right ventricular papillary muscle approximation for tricuspid valve repair. MethodsRight ventricular papillary muscle approximation consists of suturing the anterior papillary muscle to a point of the septum (septum or septal papillary muscle) that optimizes leaflet coaptation. We describe our technique and analyze clinical data of patients undergoing tricuspid valve repair with right ventricular papillary muscle approximation during congenital heart surgery between 2012 and 2021. ResultsRight ventricular papillary muscle approximation was performed as an adjunct procedure in 207 of 825 tricuspid valve repairs (25.1%). Discharge tricuspid regurgitation grade was mild tricuspid regurgitation or less in 153 patients (73.9%), and 140 patients (67.6%) had mild tricuspid regurgitation or less at a median latest follow-up of 3.2 years (interquartile range, 0.7-6.8). Thirty patients (14.5%) underwent 11 early tricuspid valve reinterventions (3 due to right ventricular papillary muscle approximation dehiscence) and 21 late tricuspid valve reinterventions. Estimated 5-year freedom from tricuspid valve reintervention was 84% (95% CI, 77.0-89.2). Systemic right ventricle physiology (odds ratio, 2.88, P = .048) and multiple mechanisms of tricuspid regurgitation (odds ratio, 7.35, P = .038) were significant predictors of tricuspid valve reintervention on multivariable analysis. ConclusionsTricuspid valve repair with right ventricular papillary muscle approximation demonstrates acceptable short-term durability, but similar to other tricuspid valve repair strategies is less durable in patients with systemic right ventricle pressure and multiple mechanisms of tricuspid regurgitation. Right ventricular papillary muscle approximation is a safe and effective adjunct technique that should be considered in patients with tricuspid regurgitation caused by leaflet splaying from displaced papillary muscles or right ventricle dilatation.

Un cas rare de complexe de Shone incomplet chez un homme de 35 ans avec un morphotype marfanoïde et revue de la littérature

Shone syndrome is a rare and complex congenital heart disease. It is characterized in its complete form, by a constellation of the four potentially obstructive lesions of the left heart side. Incomplete Shone's complex includes 2 or 3 of the characteristic lesions which, include a supravalvular mitral membrane, valvular mitral stenosis (MS) by a parachute mitral valve (PMV), subaortic stenosis and aortic coarctation (Coa). We describe here, the case of a 35-year-old man, hospitalized for chronic dyspnea and in whom, the diagnosis of incomplete Shone's complex is retained by echocardiographic analysis. Observed lesions include a parachute mitral valve responsible for mild regurgitation and moderate mitral stenosis, bicuspid aortic valve, and pseudo interruption of the aorta with dilatation of the ascending aorta and a patent ductus arteriosus. This case is the 2nd on 3942 patients in Drighil congenital heart disease registry.

Genetic and ultrasonographic analyses of fetuses with 1q21.1q21.2 microdeletion/microduplication: a retrospective study

Background1q21.1q21.2 microdeletions/microduplications are rare and incompletely penetrant genetic mutations, and only a few reports regarding their prenatal diagnosis are currently available. Here, we analyzed the ultrasonographic phenotypic characteristics of fetuses with these mutations to improve the understanding, diagnosis, and screening of these mutations during gestation.MethodsWe retrospectively analyzed 8700 cases of pregnant women who underwent invasive prenatal screening by karyotyping and chromosomal microarray analysis (CMA) between November 2016 and November 2021.ResultsCMA revealed copy number changes in the 1q21.1q21.2 region of eleven fetuses, of which five had microdeletions and six had microduplications. These eleven fetuses exhibited variable ultrasonographic phenotypes. Of the five fetuses with the microdeletion, one exhibited a right-dominant heart, permanent right umbilical vein, and mild tricuspid regurgitation, another showed thickened nuchal translucency, and the remaining three had normal ultrasound phenotypes. Two of the six cases with 1q21.1q21.2 microduplication had structural malformations; one of them had a bilateral subependymal cyst, neck mass, and enlarged cardiothoracic ratio, while the other had right ventricular hypoplasia. Of the remaining four cases, two exhibited nasal bone dysplasia, one showed measurement slower than that during menopause and mild tricuspid regurgitation, and another did not show any notable abnormality in ultrasound examination. Among the eleven cases of 1q21.1q21.2 microdeletion/microduplication, only the parents of two fetuses underwent pedigree verification. The parents of these two fetuses with 1q21.1q21.2 microdeletion syndrome chose to continue the pregnancy, and all aspects of postnatal follow-up were normal. The parents of the other nine fetuses refused pedigree verification; of these cases, four cases terminated, and five cases continued the pregnancies. The five continued pregnancies were followed up after birth; no abnormalities were found.ConclusionsFetuses with 1q21.1q21.2 microdeletion/microduplication show different ultrasound characteristics and may have congenital heart disease, thickened nuchal translucency, and nasal bone dysplasia or show no notable abnormalities in an ultrasound examination. Our study highlights that CMA as a powerful diagnostic tool for these diseases can provide an accurate genetic diagnosis, while improving prenatal diagnosis standards.