Partial Atrioventricular Septal Defect Research Articles

Eisenmenger syndrome presenting with chronic thromboembolic disease

Eisenmenger syndrome is characterized by the reversal of blood flow due to increased pulmonary vascular resistance. It can be prevented with early diagnosis and surgical treatment. Thromboembolism is a leading cause of death in patients with Eisenmenger syndrome. Pulmonary endarterectomy is the primary treatment, but medical treatments may be considered in inoperable cases. Regular follow-up and a multidisciplinary approach are important for diagnosis and treatment. Lifestyle changes and medical therapy can improve patient's quality of life and prevent complications. Our case is presented because of the chronic thromboembolic disease in addition to the pulmonary hypertension due to the partial atrioventricular septal defect and the management of the treatment.

Efficacy of atrioventricular valve regurgitation in the first trimester for the diagnosis of atrioventricular septal defect.

To investigate the efficacy of atrioventricular valve regurgitation (AVVR) for predicting atrioventricular septal defect (AVSD) in the first trimester. We performed a prospective observational study, screening for complicated congenital heart diseases and AVVR in fetuses at 11 to 13+6 weeks of gestation by advanced dynamic flow in four-chamber view and three-vessel-trachea view. 43 549 fetuses at 11 to 13+6 weeks of gestation were screened by echocardiography, of which 37 cases were diagnosed with AVSD, including complete AVSD (31 cases), intermediate AVSD (3 cases) and partial AVSD (1 cases), undiagnosed intermediate AVSD (2 cases), and misdiagnosed case (2 cases). AVVR was observed in 34 cases (34/37) in the first trimester, 59. 46% (22/37) nuchal translucency greater than 95th percentile, 29. 73% (11/37) absence of nasal bone, 32. 43% (12/37) ductus venosus A wave inversion, and 40. 54% (15/37) had tricuspid regurgitation. The sensitivity of common AVVR in predicting AVSD is better than other ultrasonic indexes. AVVR can be used as an ultrasonic indicator to predict AVSD in the first trimester, which is beneficial to detect AVSD.

Simultaneous Bentall Procedure and Partial Atrioventricular Septal Defect Repair in a 64-Year-Old Patient with Idiopathic Thrombocytopenic Purpura: A Case Report and Literature Review.

Simultaneous Bentall Procedure and Partial Atrioventricular Septal Defect Repair in a 64-Year-Old Patient with Idiopathic Thrombocytopenic Purpura: A Case Report and Literature Review.

Redo mitral valve replacement in an adult with severe pulmonary hypertension resulting from structural valve deterioration and left ventricular outflow tract obstruction and a history of atrioventricular septal defect repair: a case report

BackgroundPulmonary hypertension (PH)-associated with left heart disease (Nice PH classification group II) improves when the latter is treated; however, the treatment of PH concomitant with group I PH due to congenital heart disease is difficult, and the optimal pharmacotherapy is controversial. Intervention strategies for the left-sided atrioventricular valve in partial atrioventricular septal defect (AVSD) are problematic.Case presentationA 37-year-old woman who had undergone patch closure for a partial AVSD and mitral valve replacement with a rather large bioprosthesis at the juxta-annular position for mitral regurgitation 12 years earlier was referred to our institute because of severe PH. Echocardiography revealed calcification resulting in severe stenosis of the bioprosthesis and protrusion of its stent post into the left ventricular outflow tract; therefore, redo mitral valve replacement at the supra-annular position was performed using a mechanical valve. Combined group I and II PH gradually improved with meticulous postoperative medical management.ConclusionsSevere PH due to stent post protrusion and structural valve deterioration in AVSD was successfully treated with redo mitral valve replacement. The present case was complicated with group I and II PH, for which medical therapy in conjunction with surgical treatment yielded an optimal therapeutic effect.

Early and mid-term results of surgical treatment of atrioventricular septal defect; analysis of risk factors for adverse outcomes: left atrioventricular valve regurgitation

Background Advances in the perioperative management and optimization of the timing of primary repair have gradually improved the early clinical outcome of surgical correction of atrioventricular septal defects (AVSDs). However, the late outcome still remains compromised by the substantial risk of reoperation, of which mainly the development of left ventricular outflow tract obstruction (LVOTO) and left atrioventricular valve (LAVV) dysfunction challenge the long-term survival and morbidity of these children. In particular, LAVV regurgitation (LAVVR) is responsible for a reoperation rate between 5 and 19%, both for complete AVSD (cAVSD) and partial AVSD (PAVSD) children. Results of surgical correction of AVSDs) have improved over the last decades; however, the need for reoperation after primary AVSD repair remains a major concern. We conducted this study to analyze risk factors leading to LAVVR in the early and mid-term follow-up postsurgical repair of AVSD. Patients and methods All patients who underwent biventricular repair for AVSD at our institute, in the time between Jan 2015 and Jan 2021, meeting the inclusion criteria and none of the exclusion criteria were enrolled in the study. Preoperative, operative and postoperative data were collected from the patients’ medical file. Last follow-up Echoes were reviewed. Results Patients who had preoperative and early postoperative more than moderate LAVVR are more likely to develop LAVVR in the late follow-up and also have a more risk to need a reoperation in their midterm follow-up. Conclusions Patients who had preoperative and early postoperative more than mod LAVVR are more likely to develop LAVVR in the late follow-up and also more likely to need reoperation.

Atypical Partial Atrioventricular Septal Defect With Cleft Mitral Valve in a 59-year-old female

Atypical Partial Atrioventricular Septal Defect With Cleft Mitral Valve in a 59-year-old female

Atrioventricular septal defect: An extended approach to prenatal sonographic imaging of the atrioventricular valves

AbstractAn atrioventricular septal defect (AVSD) is diagnosed with prenatal sonography using the 4‐chamber view (4CV) of the fetal heart. Prenatal 2D sonographic imaging of normal and AVSD short axis (SAX) atrioventricular (AV) valve views have not been well described. The aim is to describe the 2D sonographic 4‐chamber and SAX view of the AV valves when an AVSD is present compared to normal AV valves. The 4CV AVSD heart demonstrates no offset of AV valves due to the abnormal valve structure. Complete and intermediate AVSD has a septum primum defect and inlet ventricular septal defect (VSD). The partial AVSDs have either a septum primum defect or just an inlet VSD with an intact primum septum. The SAX view of AVSD demonstrates the common AV junction and the bridging leaflets. In ventricular diastole valves have a “figure 8” and “dumbbell” shape in partial and complete AVSD, respectively. These appearances are not seen in the normal heart in SAX as both tricuspid and mitral valve are separate valves. The SAX view can be obtained by locating a sagittal aortic arch view and then scanning slightly towards the left side of the fetus, near the base of the heart and the AV valves. An in‐depth interrogation of the abnormal fetal heart is obtained without specialised 4D capable ultrasound machines providing information to assist in counselling during the pregnancy and for postnatal surgical planning. Future research to assess the feasibility of incorporating the SAX view into routine practice and by general sonographers is suggested.

Reconstruction of the Left Atrioventricular Valve with Pericardial Patch Closure of the Ostium Primum Atrial Septal Defect in a Patient with Partial Atrioventricular Septal Defect under Mild Hypothermic Extracorporeal Circulation and Cardioplegic Arrest (UKC’s Modification): A Video Presentation

A 26-year-old male patient diagnosed with partial type of atrioventricular septal defect in sinus rhythm, cleft left atrioventricular valve with mild pulmonary arterial hypertension, and severe left atrioventricular valvular regurgitation successfully underwent reconstruction of the left atrioventricular valve and pericardial patch closure of the atrial septal defect using UKC’s modification. The technical details of the surgical procedure have been elaborated in detail.

Subaortic Stenosis in Adult Patients With Atrioventricular Septal Defect

BackgroundPatients with atrioventricular septal defects (AVSD) are at risk for development of subaortic stenosis throughout their lifetime. The early and midterm outcomes of adults with AVSD undergoing primary operation or reoperation for subaortic stenosis remain unknown. MethodsAll patients aged 18 years or more with partial or complete AVSD who underwent operation for subaortic stenosis at our institution from 1992 to 2020 were retrospectively reviewed. ResultsNineteen patients were identified: 15 patients with partial AVSD (79%); 3 (16%) with complete AVSD; and 1 (5%) with transitional AVSD. Fifteen patients (79%) had previously corrected AVSD (median 8 years; interquartile range, 3.6-23.1) and 7 (37%) had previous repair of subaortic stenosis. The mechanism for obstruction included subaortic membrane (n = 19, 100%); septal hypertrophy (n = 11, 58%); anomalous papillary muscle, chordae, or left atrioventricular valve tissue (n = 9, 47%); and tunnel obstruction (n = 5, 26%). All patients underwent transaortic membrane resection, and septal myectomy was done in 18 patients (95%). There was no early mortality. During follow-up (median 8.3 years, maximum 28), survival was 100% at 5 years and 95% at 10 years. One patient required reintervention for subaortic stenosis 15 years after the operation at our institution. ConclusionsSurgical correction of subaortic obstruction in adult patients with AVSD can be accomplished with low morbidity and mortality. Subaortic stenosis can appear late after the initial repair of AVSD, and these patients remain at risk for recurrence after resection.

Surgical Outcomes in Children With Partial and Transitional Atrioventricular Septal Defect.

This study aimed to evaluate the long-term outcomes of partial and transitional atrioventricular septal defect repair, focusing on left atrioventricular valve reoperation. We conducted a retrospective review of 104 children who underwent partial or transitional atrioventricular septal defect repair between August 1983 and January 2021. The major outcomes included patient survival and left atrioventricular valve reoperation. Median age at repair was 4.0 (0.1-17.0) years, with 17 patients being infants (age ≤ 1 year; 16.3%). All but eight patients (92.3%) underwent left atrioventricular valve cleft closure. After initial repair, there were 18 cases of moderate-to-severe left atrioventricular valve regurgitation (17.3%). Three in-hospital deaths (2.9%) and four late deaths (3.8%) occurred. At follow-up (median 14.3 years), actuarial survival was 95.1% and 93.0% at 1 and 20 years, respectively, and 16 patients (15.4%) had undergone a total of 19 left atrioventricular valve reoperations. Initial repair performed during infancy was associated with significantly higher mortality than a repair performed after infancy (35.3% vs 1.5%, P < .01, hazard ratio = 26.4). On multivariable analysis, repair during infancy was associated with mortality (P < .01, hazard ratio = 27.4, 95% confidence interval = 2.7-283). Partial or no cleft closure of left atrioventricular valve (P = .03, hazard ratio = 4.7, 95% confidence interval = 1.2-18.8) and moderate-to-severe left atrioventricular valve regurgitation after repair (P < .01, hazard ratio = 9.9, 95% confidence interval = 3.0-32.2) were associated with left atrioventricular valve reoperation. Partial and transitional atrioventricular septal defect repair outcomes were generally satisfactory. However, repair during infancy had worse survival outcomes, and moderate-to-severe left atrioventricular valve regurgitation after a repair was associated with future left atrioventricular valve reoperation.

Single-Stage Surgical Management of Atrioventricular Septal Defects with Coarctation of the Aorta.

Surgical options for coarctation of aorta (CoA) with atrioventricular septal defect (AVSD) include single-stage repair vs. staged approach with neonatal CoA repair and delayed AVSD repair. The durability of left atrioventricular valve (LAVV) function after neonatal repair is questioned, and the optimal approach remains controversial. Eighteen CoA-AVSD patients who underwent single-stage repair 2005–2015 by a single surgeon were retrospectively analyzed. Fifteen patients had complete and three had partial AVSD. Birth weight was 3.19 kg (2.17–4.08). Age at surgery was 16 days (6–127). One- and ten-year survival were 80% and 69%. Freedom from reintervention was 60% and 40% at one and ten-year respectively. Reinterventions included relief of left ventricular outflow tract obstruction (LVOTO) (n = 4), repair of cleft LAVV (n = 3), and LAVV and aortic valve replacement (n = 1). Freedom from LAVV reintervention was 85.6% and 66% at 1 and 10 years respectively. There were four deaths: two post-operative and two following hospital discharge. Mortality was due to sepsis in three patients, and heart failure related to LVOTO and LAVV insufficiency in one. At 68-month (0.6–144) follow-up the majority had mild or less LAVV regurgitation, and all had normal LV dimension and systolic function. There was no recurrent arch obstruction. Single-stage surgical repair of CoA-AVSD is feasible and reasonable. Survival and freedom from reintervention in our cohort approximate those outcomes of two-stage repair with durable left AV valve function and no recurrent arch obstruction. These patients are frequently syndromic and demonstrate mortality risk from non-cardiac causes. Consideration of a single-staged approach is warranted for appropriate patients with CoA-AVSD.

Late Presentation of Partial Atrioventricular Septal Defect: A Case Report

Atrioventricular septal defect is a spectrum of congenital heart defects that can be classified as either complete or partial with the complete form being the most common and usually present in the neonatal period with congestive heart failure. However, partial defects can remain asymptomatic and present later in adulthood with variable degrees of heart failure. The case under investigation is a middle aged female with a 2-year history of worsening dyspnea and recurrent chest infections due to undiagnosed partial atrioventricular septal defects. As a conclusion, it is important to establish a screening program to detect the asymptomatic cases early and prevent delay consequences.

Partial Atrioventricular Septal Defect in an Elderly Patient: A Case Report

Long-term survival of patients with partial atrioventricular septal defect (PAVSD) without operative therapy is very rare. We report the case of an 80-year-old woman who presented with dyspnea, palpitations, and deteriorating general condition and was diagnosed by routine echocardiography.

Familial partial atrioventricular septal defect in four related kindreds: case series and review of the literature

BackgroundAtrioventricular septal defects are common congenital heart defects and comprise a spectrum of anomalies, these defects were described in few pedigrees suggesting a familial pattern of inheritance, and they are more common in patients with chromosomal abnormalities. The familial occurrence of this particular type of congenital heart disease is uncommon and few cases have been identified as partial atrioventricular septal defect in adults apart from other chromosomal abnormalities.Case presentationWe report four cases of adult females who were diagnosed with partial atrioventricular septal defect in four related families, our patients do not have the morphology of Down syndrome.ConclusionsFurther researches on genotyping such patients might contribute to our knowledge regarding this particular cardiac malformation.

Predictors of survival in paediatric mitral valve surgery: the impact of age at operation at late follow-up.

The aim of this study was to elucidate predictors of death and reintervention after mitral valve (MV) surgery in children. A single-centre retrospective study was performed enrolling 142 patients younger than 18 years who underwent primary index surgical mitral repair or replacement at Bambino Gesù Children's Hospital in Rome from July 1982 to April 2020. Patients with complete, transitional or partial atrioventricular septal defect and patients with single ventricle physiology were excluded. Patients were stratified according to the age group: group 1 (<1 year old), group 2 (1-5 years old) and group 3 (>5 years old). The composite primary outcome was freedom from death or transplant. The secondary outcome was freedom from redo MV surgery. Transplant-free survival was 89% at 5 years and 88% at 10 years. Stratified by age, group 1 had poorer outcome in comparison with other groups (log-rank test P = 0.105). Both univariate and multivariate analyses showed that age <1 year was a significant risk factor for death or transplant (P = 0.044). Age <1 year was associated with increased risk of reoperation (aHR = 3.38, P = 0.009), while the presence of genetic syndrome (aHR = 0.22) and preoperative EF% (aHR = 0.97) were protective factors for reoperation. The overall survival and freedom from reoperation in children undergoing MV surgery still need improvements. Younger age was a significant risk factor for death and reintervention both after repair and replacement of the MV. In particular, infants and neonates have a three-fold risk for death compared to children.

Clinical Features and Outcomes in Adults With Childhood Repair of Partial Atrioventricular Septal Defect

BackgroundPartial atrioventricular septal defects (pAVSDs) are mostly repaired in childhood; however, there are limited data describing these patients in adulthood. ObjectivesThe objective of this study was to describe clinical course and associations with outcomes in adults with repaired pAVSDs. MethodsA retrospective review of adults (≥18 years) with pAVSDs repaired in childhood who presented to the Adult Congenital Heart Disease Clinic at our institution was conducted. ResultsOf 121 patients, the median age was 31 years (IQR: 22-43 years) and 71.9% were female. The median number of operations at the time of presentation was 1 (IQR: 1-2). Left atrioventricular valve (LAVV) replacement had been performed in 19.8% of patients. Among those with native LAVV, 41.2% had ≥ moderate regurgitation. Atrial arrhythmias were present in 34.7% and were associated with later age at repair (P = 0.02) and a high number of prior surgeries (P = 0.005). Estimated systolic pulmonary artery pressure >40 mmHg was seen in 19.8%. Over 4 (IQR: 1-12) years of follow-up, death occurred in 13 (10.7%) patients and reoperation was required in 39.7%. One-third had a LAVV prosthesis by the end of the study. Atrial fibrillation was independently associated with death or hospitalization on multivariable analysis. ConclusionsIn this cohort of adults with pAVSDs repaired in childhood, atrial fibrillation was common at a young age and associated with worse outcomes. Thus, more studies are needed evaluating the cause of this arrhythmia burden and possible associated atrial myopathy. While many require surgery in adulthood, more information is needed regarding indications for and impacts of LAVV intervention as one-third had an LAVV prosthesis by the end of follow-up.

Abstract 12610: Larger Papillary Muscles and Thicker Chords Were Associated With Post-Operative Left Atrioventricular Valve Regurgitation in Partial AVSD, a Quantitative Three-Dimensional Echocardiography Study

Background: Up to 15% of patients with partial Atrioventricular Septal Defects ( p AVSD) require re-repair of the Left AtrioVentricular Valve (LAVV), with 30% having significant regurgitation. Previous qualitative studies suggest abnormalities in papillary muscles, shortened chordae and thick chords as features associated with LAVVR. We aim to quantitatively assess the sub valvar apparatus in pAVSD using three-Dimensional Echocardiography (3DE) for its association with LAVVR. Hypothesis: We hypothesize that larger papillary muscle and chordal thickness in patients with p AVSD is associated with post-operative LAVVR. Methods: This is a prospective study between 2006 and 2018, of pAVSD aged 0-18 years. All underwent 3DE under sedation using X7-2 probe on a Philips iE33 ultrasound system. Utilizing offline QLAB multi-planar reconstruction (v.10.8.5) we measured anterolateral (APM) and posteromedial papillary (PPM) muscle length; cross sectional area and circumference; chordal length and thickness in mid systole. We measured post-operative vena contracta and LAVV diameter in Apical 4 chamber using 2D color Doppler. Cohort was divided into patients with significant post-operative LAVVR vs. controls based on LAVV vena contracta/LAVV annulus ratio cut off &gt;0.25 (greatest one-third of cohort), LAVVR (n=22) and Controls (n=44). All variables are indexed to Body Surface Area, expressed as median [interquartile range] or mean (standard deviation). Results: LAVVR group were younger at initial surgery, had larger papillary muscles and thicker chords. Table 1 summarizes the variables for Control and LAVVR. Eighteen patients had LAVV re-repair, 14 (63%) were in LAVVR group and 4 (9%) in Controls. Median follow up was 1.5 years. Median time to re-repair was 1.3 years. Conclusion: p AVSD patients with a greater risk of post-operative LAVVR and subsequently re-repair were younger at first repair and had larger papillary muscles length, circumference and thicker chords.

Incidence and management of the left ventricular outflow obstruction in patients with atrioventricular septal defects.

OBJECTIVESLeft ventricular outflow tract obstruction (LVOTO) is a recognized complication after complete repair of atrioventricular septal defect (AVSD). This study reviewed the incidence and management of LVOTO following AVSD repair at a single institution.METHODSFrom 1975 to 2019, 24 patients (3.3%, 24/730) underwent reoperation due to LVOTO following partial AVSD (pAVSD) and complete AVSD (cAVSD) repair. The data were retrospectively reviewed.RESULTSThe incidence of LVOTO following pAVSD and cAVSD repair was 4.4% (12/275) and 2.6% (12/455). Freedom from LVOTO reoperation following pAVSD and cAVSD repair at 25 years was 94.3% [95% confidence interval (CI); 89.7–96.7] and 95% (95% CI; 91.1–97.3). The median time from complete repair of pAVSD and cAVSD to LVOTO reoperation was 4.4 years [interquartile range (IQR): 3.4–6.7] and 2.6 years (IQR: 2.2–4.7). Freedom from second LVOTO reoperation at 5, 10 and 15 years was 83.7% (95% CI; 57.2–98.2), 59.2% (95% CI; 28.7, 80.3) and 39.5% (95% CI; 13.2–65.3). The median time between the first and the second LVOTO reoperation in the groups of pAVSD and cAVSD was 6.1 years (IQR: 3.4–8.9) and 8.6 years (IQR: 5.7–9.8). There was no significant difference regarding the first (P = 0.7406) and subsequent LVOTO (P = 0.7153) following complete repair of pAVSD and cAVSD. Combined access to the left ventricular outflow tract was not protective regarding LVOTO reoccurrence. Survival for both groups after LVOTO reoperation at 15 years was 95.6% (95% CI 99.4–72.9).CONCLUSIONSIncidence of LVOTO after AVSD repair is low but the reoccurrence rate is high. Standard subaortic resection does not always provide definitive LVOTO relief. The survival after LVOTO reoperation is excellent.

A Modified Technique for Valve Regurgitation After Partial Atrioventricular Septal Defect Repair

Given its complex pathologic anatomy, recurrent left atrioventricular valve regurgitation after partial atrioventricular septal defect repair remains a challenge for surgical correction. Here, we introduce a modified bridging technique by shortening the anteroposterior leaflet distance in selected patients with inadequate coaptation to compensate for the short leaflet height, specifically that of the anterior leaflet.

Three-dimensional transesophageal echocardiography in diagnosis of intermediate atrioventricular septal defect in the adult: case report and literature review

BackgroundIntermediate type atrioventricular septal defect is less frequent than complete or partial atrioventricular septal defect, and is rarely encountered in the elderly and the utility of three dimensional transesophageal echocardiography in the diagnosis has not been reported to date.Case presentationIn this case report, we described a rare case of an intermediate atrioventricular septal defect in an adult patient and we showed the valuable utility of real time 3D transesophageal echocardiography in the diagnosis and future surgical planning. The patient was referred to a tertiary center for an elective surgical repair. Finally, we provided a detailed review of the literature concerning the intermediate type of atrioventricular septal defect.ConclusionAlthough 2D transthoracic and transesophageal echocardiography enables diagnosis of the intermediate type atrioventricular septal defect, precise assessment of anatomy of atrioventricular septal defects and common atrioventricular valve was enabled only by real time 3D echocardiography.