Bicuspid Pulmonary Valve Research Articles

Coexisting bicuspid pulmonary and aortic valves

Coexisting bicuspid pulmonary and aortic valves

Incidence of quadricuspid pulmonary valves at postmortem examination

Quadricuspid pulmonic valve is a rare congenital abnormality and because of its difficult non-invasive assessment, it is usually discovered incidentally at autopsies (reported prevalence in post-mortem specimens ranges from 1 in 400 to 1 in 2000). Unlike a bicuspid pulmonary valve, it rarely presents with clinical complications, such as valvular insufficiency or stenosis. Abnormal function is rarely reported in cases that are not associated with other congenital heart disease. With increased sophistication of imaging coincidental quadricuspid valves autopsy studies are important to understand the anatomical consequences of this finding. Our case series identified 21 QPV cases from the Victorian Institute of Forensic Medicine, Melbourne and St George's University of London, Department of Cardiovascular Pathology. Cases were identified through local database searches and review of autopsy/cardiac examination reports over a 20-year period. Available photographs were also systematically examined. Fifteen cases had causes of death with no direct causality to cardiac valvular pathology alone. Six cases were considered unascertained or similar (sudden arrhythmic death syndrome and sudden unexpected death in epilepsy). The presence of QPV in these instances were uncertain but thought to be unlikely contributory to death, due to the absence of pulmonary valvular complications.

Cor triatriatum sinister with dextrocardia in association with ostium secundum atrial septal defect, subpulmonary ventricular septal defect and bicuspid pulmonary valve in a pig

Necropsy of a 52-day-old Camborough pig revealed numerous cardiac malformations. The positional relationship of the atria, ventricles and great vessels was a mirror image type (I, L and L): inverted arrangement of the atria, with a left-sided right atrium and right-sided left atrium (situs inversus); inverted arrangement of the ventricles, with a left-sided morphological right ventricle and right-sided morphological left ventricle (L-loop); and aortic valve to the front left relative to the pulmonary valve (L-malposed). The major malformations included an ostium secundum atrial septal defect, cor triatriatum sinister (CTS), a subpulmonary ventricular septal defect and a bicuspid pulmonary valve. Histological examination revealed myocyte hypertrophy, focal myocardial necrosis and calcification in the left morphological right ventricle of the heart. To the best of our knowledge, this is the first report of CTS in pigs. Although the individual malformations found in the present case are not unique, an unusual combination of these cardiac malformations has not been described in animals.

Long-term Outcomes of Polytetrafluoroethylene Bicuspid Pulmonary Valve Replacement

BackgroundIn 2016 we reported promising midterm outcomes of bicuspid pulmonary valve replacement using 0.1-mm polytetrafluoroethylene (PTFE) membrane. This follow-up study analyzes long-term outcomes and risk factors for reintervention and structural valve deterioration (SVD). MethodsWe performed a retrospective review of the original 119 patients who underwent PTFE bicuspid pulmonary valve replacement. Median patient age was 16.9 years (range, 0.4-57.1). Reintervention was defined as any surgical or percutaneous catheter procedure on the PTFE valve. SVD was defined as development of a peak pressure gradient ≥ 50 mm Hg or at least a moderate amount of pulmonary regurgitation on follow-up echocardiography. ResultsThe median follow-up duration was 9.5 years. The survival rate was 96.5% at 5 and 10 years, with 2 early and 2 late mortalities. Freedom from reintervention was 90.0% at 5 years and 63.3% at 10 years. Freedom from SVD was 92.8% at 5 years and 51.1% at 10 years, with regurgitation the predominant mode (64.6%). Freedom from both reintervention and SVD at 5 and 10 years were 89.1% and 49.5%, respectively. Multivariable analysis identified smaller valve diameter (hazard ratio, 0.82; P < .001) and more than trivial pulmonary regurgitation at discharge (hazard ratio, 5.81; P < .001) as risk factors for reintervention or SVD. ConclusionsLong-term results of the PTFE bicuspid pulmonary valve replacement were acceptable. However, improvements may be needed to reduce technical error and improve durability. Smaller valve diameter and more than trivial pulmonary regurgitation at discharge were risk factors for reintervention or SVD, warranting careful follow-up for timely reintervention.

Unexpected discovery of a bicuspid pulmonary valve on 3D transoesophageal echocardiography.

Journal Article Accepted manuscript Unexpected Discovery of a Bicuspid Pulmonary Valve on 3D Transesophageal Echocardiography Get access Hong Lee, M.D, M.P.H, Hong Lee, M.D, M.P.H Department of Cardiovascular Diseases, Mayo Clinic, Scottsdale, Arizona, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Michael A Apolinario, M.D, M.S, Michael A Apolinario, M.D, M.S Department of Cardiovascular Diseases, Mayo Clinic, Scottsdale, Arizona, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Juan M Farina, M.D, Juan M Farina, M.D Department of Cardiovascular Diseases, Mayo Clinic, Scottsdale, Arizona, USA https://orcid.org/0000-0002-5824-8485 Search for other works by this author on: Oxford Academic PubMed Google Scholar David Majdalany, M.D, David Majdalany, M.D Department of Cardiovascular Diseases, Mayo Clinic, Scottsdale, Arizona, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Reza Arsanjani, M.D Reza Arsanjani, M.D Department of Cardiovascular Diseases, Mayo Clinic, Scottsdale, Arizona, USA Address of Correspondence: Arsanjani, Reza, 13400 E Shea Blvd, Scottsdale, Arizona 85259, Tel: 480-301-4040, Fax: 480-301-8700, Email: arsanjani.reza@mayo.edu https://orcid.org/0000-0001-7081-4286 Search for other works by this author on: Oxford Academic PubMed Google Scholar European Heart Journal - Cardiovascular Imaging, jead127, https://doi.org/10.1093/ehjci/jead127 Published: 02 June 2023 Article history Received: 23 May 2023 Accepted: 29 May 2023 Published: 02 June 2023

Short-Axis Imaging of the Pulmonary Valve through a Modified Parasternal View

Background: The aortic and pulmonary valves are both tricuspid valves. All cusps of the aortic valve can be imaged in the parasternal short-axis view but the pulmonary valve cusps are not routinely imaged during trans-thoracic echocardiography. Methods: We evaluated the feasibility of imaging all three pulmonary valve cusps in the short-axis by a modified parasternal view in 100 consecutive children below the age of 5 years. Results: A satisfactory short-axis imaging of the pulmonary valve was possible in 96 of 100 consecutive children in whom a complete echocardiogram study was performed. This detected abnormalities in the pulmonary valve in 10 children. This included bicuspid pulmonary valves, tricuspid pulmonary valves with unequal cusps, and a quadricuspid pulmonary valve. Visualization of the pulmonary valve permitted preoperative planning of pulmonary valve repair in one infant with a concomitant large ventricular septal defect. Conclusion: An adequate visualisation of the pulmonary valve leaflets by a modified parasternal view during trans-thoracic echocardiography was feasible in a vast majority of young children. The modified pulmonary short-axis view should hence be included as the part of a comprehensive pediatric echocardiographic protocol.

The impact of a bicuspid pulmonary valve in the aortic position after arterial switch for transposition of the great arteries on neoaortic root dimension and function: a propensity score matched analysis.

OBJECTIVESThis study investigated the effect of a bicuspid pulmonary valve on neoaortic root morphology, function, and the clinical outcomes of early survivors after the arterial switch operation using propensity score matching.METHODSFrom 1997 to 2018, a total of 442 patients underwent the arterial switch operation for transposition of the great arteries. After exclusion of patients who underwent a staged repair, were repaired beyond 1 year of age, died before discharge and who lacked echocardiographic data at discharge, propensity score matching was used for analysis.RESULTSAmong 352 eligible patients, 18 patients (5.1%) had a bicuspid pulmonary valve. After propensity score matching (1:4), 15 patients with bicuspid valve (bicuspid group) and 60 patients with tricuspid valve (tricuspid group) were enrolled. The median follow-up duration was 9.9 years (4 months∼22.3 years). All-cause reoperation-free survival at 10 years was 93.3% in the bicuspid group and 87.0% in the tricuspid group (P = 0.839), and reoperation for neoaortic valve or root was required in 2 patients in the bicuspid group and 1 in the tricuspid group without intergroup difference. The z-score of the neoaortic annulus did not change in either group, although there was an increasing tendency in the z-score of the neoaortic sinus without intergroup difference (P = 0.690). Deterioration in neoaortic valve function was more prominent in the bicuspid group (p = 0.028).CONCLUSIONSThe neoaortic sinus might outgrow the norm regardless of the number of neoaortic valve cusps, whereas the neoaortic annulus remained unchanged. Deterioration of valve function was more prominent in the bicuspid group, which suggests that a bicuspid valve might play a significant role in deterioration of neoaortic valve function, without an additional effect on root pathology.

THE ROSS PROCEDURE WITH A BICUSPID PULMONARY AUTOGRAFT

<h3>BACKGROUND</h3> >We illustrate the steps for a Ross procedure in a 24-years old patient who presented with an unicuspid aortic valve with mixed aortic stenosis/aortic regurgitation and who was intraoperatively found to have a bicuspid pulmonary autograft, warranting the need for concurrent repair of the autograft. Without repair of the bicuspid pulmonary autograft, this patient would likely have had cusp prolapse and residual aortic insufficiency, compromising early and late valve function, and ultimately the patient's outcome. <h3>METHODS AND RESULTS</h3> Although it could be argued to have simply replaced our patient's aortic valve with a standard valve prosthesis, his young age posed a challenge with his longer anticipated life expectancy and higher cumulative risk of prosthesis-related complications. The Ross procedure, unlike standard bioprosthetic or mechanical aortic valve replacement, restores expected survival equivalent to that of age and gender-matched general population. A bicuspid pulmonary valve is considered a rare congenital anomaly with an estimated incidence of 0.1% and may be considered a relative contraindication for the Ross procedure. However, our patient had favourable bicuspid anatomic characteristics with pliable cusps, good commissural orientation, and geometric height of 20 mm, and we applied all the principles of bicuspid aortic valve repair with symmetric commissural implantation, a tailored aortic annuloplasty and achieving an effective height of 10 mm with central cusp plication to ensure a well functioning bicuspid pulmonary autograft. At 1 year follow-up, the patient was completely asymptomatic and ambulating without limitations. Repeat transthoracic echocardiography revealed a normal functioning pulmonary autograft with no aortic insufficiency, normally functioning pulmonary homograft, and preserved left ventricular function and dimensions. We have employed this technique successfully in two patients. To our knowledge, only one previous paper presented a repair of a bicuspid pulmonary autograft valve, but this was for moderate aortic insufficiency noted 5 days after the Ross procedure. <h3>CONCLUSION</h3> In this report, we present the concomitant repair of a bicuspid pulmonary autograft at the time of the index operation. We aim at drawing on the advantages of the Ross procedure for young patients while restoring the function of the bicuspid pulmonary autograft using common bicuspid aortic valve repair techniques, thus extending the use of the Ross procedure to more patients who would otherwise be considered ineligible.

Native Bicuspid Pulmonary Valve in D-Loop Transposition of the Great Arteries: Outcomes of the Neo-Aortic Valve Function and Root Dilation After Arterial Switch Operation.

BackgroundNeo‐aortic root dilation and neo‐aortic regurgitation (AR) are common after arterial switch operation for D‐loop transposition of the great arteries. We sought to evaluate these outcomes in patients with bicuspid native pulmonary valve (BNPV).Methods and ResultsA retrospective analysis of patients with transposition of the great arteries undergoing arterial switch operation at Boston Children's Hospital from 1989 to 2018 matched BNPV patients 1:3 with patients with tricuspid native pulmonary valve by year of arterial switch operation. Kaplan–Meier analyses with log‐rank test compared groups for time to first neo‐aortic valve reoperation, occurrence of ≥moderate AR, and neo‐aortic root dilation (root z score ≥4). A total of 83 patients with BNPV were matched with 217 patients with tricuspid native pulmonary valve. Patients with BNPV more often had ventricular septal defects (73% versus 43%; P<0.001). Hospital length of stay (11 versus 10 days) and 30‐day surgical mortality (3.6% versus 2.8%) were similar. During median 11 years follow‐up, neo‐aortic valve reoperation occurred in 4 patients with BNPV (6.0%) versus 6 patients with tricuspid native pulmonary valve (2.8%), with no significant difference in time to reoperation. More BNPV had AR at discharge (4.9% versus 0%; P=0.014) and during follow‐up (13.4% versus 4.3%; hazard ratio [HR], 3.9; P=0.004), with shorter time to first occurrence of AR; this remained significant after adjusting for ventricular septal defects. Similarly, neo‐aortic root dilation was more common in BNPV (45% versus 38%; HR, 1.64; P=0.026) with shorter time to first occurrence.ConclusionsWhile patients with BNPV have similar short‐term arterial switch operation outcomes, AR and neo‐aortic root dilation occur more frequently and earlier compared with patients with tricuspid native pulmonary valve. Further long‐term studies are needed to determine whether this results in greater need for neo‐aortic valve reoperation.

Association of Pulmonary Valve Morphology Differences With Outcomes in Tetralogy of Fallot Repair With Right Ventricular Outflow Tract Incision.

Background: Current observational studies may not have large samples to investigate the relationship between pulmonary valve (PV) morphology differences and outcomes after complete repair for tetralogy of Fallot (TOF) by right ventricular outflow tract (RVOT) incision. This study aimed to assess the impact of PV morphology differences on outcomes after complete repair for TOF.Methods: This is a retrospective cohort study. Consecutive patients who underwent TOF repair with RVOT incision at Fuwai Hospital from January 2012 to December 2017 were included and compared according to PV morphology differences (unicuspid or bicuspid was abnormal morphology, while the tricuspid valve was normal morphology). The primary outcome was defined as a composite of death, or reintervention, or significant annular peak gradient (APG), or significant pulmonary regurgitation (PR), whichever occurred first. Multivariable Cox model analysis was used to assess the relationships between PV morphology differences and outcomes. Subgroup analysis and Propensity-score analysis were performed as sensitivity analyses to assess the robustness of our results.Results: The cohort included a total of 1,861 patients with primary diagnosis of TOF, with 1,688 undergoing CR-TOF with RVOT incision. The median age was 318 days [interquartile range (IQR): 223–534 days], a median weight of 8.9 kg (IQR: 7.6–10.5 kg) and 60.0% (1,011) were male. Complete follow-up data were available for 1,673 CR-TOF patients with a median follow-up duration of 49 months. Adjusted risks for the primary outcome and significant APG were lower for patients with normal PV morphology at follow up [adjusted hazard ratio (HR): 0.68; 95% CI: 0.46–0.98; adjusted HR: 0.22; 95% CI: 0.07–0.71, respectively]. The trend for the primary outcome during follow-up remained unchanged, even in subgroups and propensity score matching analyses.Conclusions: In this analysis of data from a large TOF cohort, patients with normal tricuspid PVs were associated with a decreased risk of the primary outcome and a lower risk of significant APG, as compared with patients with abnormal unicuspid or bicuspid PVs.

A Case of Isolated Bicuspid Pulmonic Valve and Pulmonary Artery Aneurysm.

A 33-year-old woman with a history of thyroid surgery for thyroid cancer and radioactive iodine therapy was referred for echocardiography due to dyspnea on exertion. Transthoracic echocardiography showed normal left ventricular size and function (the ejection fraction = 55%), a prolapsing mitral valve with redundant chordae, mild mitral regurgitation, a tricuspid aortic valve, mild aortic insufficiency, and mild tricuspid regurgitation. The most remarkable echocardiographic findings were moderate right ventricular dilation with mild systolic dysfunction, moderate right atrial dilation, an aneurysmal pulmonary artery (the main pulmonary artery = 47 mm), mild pulmonary stenosis (the peak gradient = 22 mmHg), and severe pulmonary regurgitation (the vena contracta = 6–7 mm and the pressure half time = 105 ms). Transesophageal echocardiography with the use of 3D modalities demonstrated a bicuspid pulmonic valve with doming and poor coaptation of the pulmonic valve leaflets (Figure 1). Additionally, a large patent foramen ovale was visualized in color Doppler (the flap separation = 2 mm and the tunnel length = 11 mm) with bubble passage in agitated saline injection. Bicuspid pulmonic valves constitute a rare finding, and they are most often associated with other congenital heart diseases. Isolated bicuspid pulmonic valves are extremely rare, with an incidence rate of about 0.1% in clinical practice.1 Pulmonary artery aneurysms also comprise a rare abnormality, with an incidence rate of approximately 1 in 14 000 cases in most studies.2 The association between bicuspid pulmonic valves and pulmonary artery aneurysms has been reported, and the pathophysiologic causes of this association include hemodynamic alterations due to bicuspid pulmonic valves and most likely the abnormal migration of neural crest cells.3 The diagnosis of a bicuspid pulmonic valve by 2D imaging is challenging and sometimes impossible. Using 3D echocardiography and reconstruction confers a better assessment of the pulmonic valve morphology and identification of bicuspid pulmonic valves.

Surgical Outcome of Right Ventricular Outflow Tract Reconstruction Using Bicuspid Pulmonary Valve in Tetralogy of Fallot Repair: A Single Centre Experience

Background: Tetralogy of Fallot (TOF) is one of the most common congenital cardiac defect. In patients with small PV annulus, it has to be augmented to certain diameter by cutting annulus. In these cases, transannular patch is used free PR is inevitable. Free PR with transannular patch ultimately leads to RV dilatation, dysfunction, arrhythmia and failure with time. Monocuspid reconstruction of PV is commonly practiced in many centers but its long-term outcome is poor though it helps to achieve a less stormy ICU course. Modified monocusp or bicuspid PV reconstruction is a good choice where 0.1mm PTFE patch is used.&#x0D; Objectives: We are presenting the results of bicuspid PV reconstruction using a 0.1mm PTFE patch as a method of RVOT reconstruction in repair of TOF with transannular patch.&#x0D; Methods: A total, 42 patients diagnosed as TOF were treated from January 2016 to October 2020. Age range 18 months to 35 years, weighing 10 kg to 70 kg. 38 patients had TOF, 4 had DORV with PS. The transannular patch was followed by implantation of a 0.1-mm PTFE modified monocusp valve using posterior fixation.&#x0D; Results: Among total patients 28 were male and 14 were female. Mean age 9.58±5.6 yrs. Bypass time was 187±31 min, cross-clamp time 123.63±25.42 min. Out of 42 patients, PR gradient was trivial in 7(16.67%), mild in 31(73.1%), moderate in 4(9.52%) patients. First, a follow-up echocardiogram revealed no significant deterioration of PR gradient. ICU stay was 89±32.6 hours and mean hospital stay 11.48±2.1 days.&#x0D; Conclusion: Initial results using a transannular patch with a modified monocusp valve to repair the outflow tract in cases of Tetralogy of Fallot were excellent. There were only a slight pressure gradient and mild regurgitation in most of the cases.&#x0D; DS (Child) H J 2020; 36(2): 114-119

A case of isolated bicuspid pulmonary valve detected by transthoracic echocardiography

A case of isolated bicuspid pulmonary valve detected by transthoracic echocardiography

Abstract 13323: Identifying the Culprit Lesion in a Symptomatic Patient With Physiologically Corrected Transposition of the Great Arteries

Introduction: Physiologically corrected transposition of the great arteries [(S,L,L) TGA] is a rare congenital heart disease characterized by atrioventricular and ventriculoarterial discordance. Case Presentation: A 28-year-old man with (S,L,L) TGA, pulmonary valve (PV) stenosis, ventricular septal defect (VSD), and history of Kawasaki disease who presented for a gradual decline in exercise tolerance. Oxygen saturation was 96% at rest and dropped to 86% with ambulation. Hemoglobin was 17.7 g/dl, EKG showed no bradyarrhythmias. On stress test, peak heart rate was 159 beats/minute, and peak VO 2 22.6 ml/kg/min (83%, and 57% of predicted value respectively). Spirometry was normal. Transthoracic echocardiogram revealed biventricular hypertrophy with normal systolic function, a bicuspid PV with severe stenosis (peak and mean gradient of 155 and 90 mmHg respectively), large inlet VSD with bidirectional flow and mild systemic TV regurgitation. Coronary CTA showed no coronary artery aneurysms. Cardiac catheterization suggested hypoxia due to pulmonary-to-systemic shunting across the VSD with Q p /Q s = 0.86 (Figure). Consideration should be given to performing a high-risk surgical repair versus medical management. Conclusions: Natural history, symptoms, and timing of intervention are determined by the associated cardiac anomalies and the progressive dysfunction of the systemic right ventricle (SRV). Anatomic repair to restore the left ventricle as a systemic pump is a very high-risk procedure in adults. Functional repair maintains SRV, repair the VSD, and PV stenosis has a poor late outcome. Medical management ensures iron stores are repleted, provide empirical use of pharmacological heart failure therapy, and referral to heart transplantation when SRV systolic dysfunction ensues. Clinicians need to know the potential complications in both unoperated patients and following various surgical repairs to recommend appropriate treatment options.

Abstract 14744: Native Bicuspid Pulmonary Valve in D-loop Transposition of the Great Arteries: Outcomes of the Neo-aortic Valve Function and Root Dilation After Arterial Switch Operation

Introduction: Neo-aortic root dilation (ARD) is common after arterial switch operation (ASO) for D-loop transposition of the great arteries (TGA). We sought to compare short and long-term outcomes for bicuspid native pulmonary valve (BNPV) patients to those with normal trileaflet variants (TNPV). Methods: A retrospective cohort of TGA patients undergoing ASO at Boston Children’s Hospital from 1989-2018 was analyzed, matching BNPV patients 1:3 with TNPV patients by year of ASO; those with &gt;mild subpulmonary stenosis or complex TGA were excluded. Categorical and continuous variables were compared using Fisher’s exact and Wilcoxon rank sum tests, respectively. Kaplan-Meier analyses with log-rank test compared groups for time to first reoperation on the neo-aortic valve, first occurrence of ≥moderate neo-aortic regurgitation (AR), and ARD defined as root z-score ≥4. Hazard ratios were estimated based on the Cox proportional hazards model. Results: A total of 83 BNPV patients were matched with 217 TNPV. BNPV patients were more likely to have a VSD (75% vs 44%, p &lt;0.001). Early surgical outcomes including hospital LOS (11 vs 10 days) and 30-day mortality (3.6% vs 2.8%) were similar. During median 10 years follow-up, neo-aortic valve reoperation occurred in 4 BNPV (6%) vs 6 TNPV (3%) patients, with no statistically significant difference in time to reoperation. More BNPV patients had AR at discharge (4.9% vs 0%, p=0.014) and during follow-up (13.4% vs 4.3%, HR 3.9, p=0.004), with shorter time to first occurrence of AR (Figure 1A); this remained significant after adjusting for presence of VSD. Similarly, ARD was more common in BNPV (45% vs 37%, HR 1.64, p=0.02) with shorter time to first occurrence (Figure 1B). Conclusions: While patients with BNPV have similar short-term ASO outcomes, AR and ARD occur more frequently and earlier compared with TNPV patients. Further long-term studies are needed to determine whether this results in greater need for neo-aortic valve reoperation.

Abstract 14902: The Impact of Bicuspid Pulmonary Valve in Aortic Position After Arterial Switch for Transposition of the Great Arteries onNeoaortic Root and Neoaortic Valve Function; Propensity Score Matched Analysis

Objective: Neoaortic valve regurgitation which might be related to root dilatation is one of the major concerns following arterial switch operation (ASO) for transposition of the great arteries (TGA). This study investigated the effect of bicuspid neoaortic valve on neoaortic root morphology, function, and the long-term clinical outcomes after ASO for TGA using propensity score matching (PSM). Methods: From 1997 to 2018, 442 patients underwent ASO for TGA. Patients who underwent staged repair (n=15), were repaired at extremely old age (&gt; 1 year, n=9), and died before discharge (n=46), and were lack of echocardiographic data at discharge (n=20) were excluded. Among a total of 352 eligible patients, 18 patients (5.1%) had a BPV. After PSM (1:4), 15 patients with BPV and 60 corresponding patients with tricuspid pulmonary valve were enrolled for analysis. Results: Baseline characteristics in both groups were similar. The median duration of follow-up was 9.9 years (4 months ~ 22.3 years). There was one late death. Freedom from reoperation at 10 years was 93.3 ± 6.4 % in bicuspid group and 88.7 ± 4.4 % in tricuspid group ( p =0.84). Reoperation for aortic valve or aortic root was rarely required during follow-up. Indexed dimension (z-score) of neoaortic annulus was not increased in both groups ( p =0.57) (Figure 1A), although there was a little increasing tendency in z-score of neoaortic sinus without intergroup difference ( p =0.69) (Figure 1B). Deterioration in neoaortic valve function was more prominent in bicuspid group (common odds ratio; 1.40 in bicuspid group [ p &lt;0.01], and 1.12 in tricuspid group [ p =0.03], p =0.03) (Figure 1C). Conclusions: Arterial switch operation could be a safe option in selected patients with TGA associated with BPV without increasing the risk of reoperation. Deterioration of aortic valve function was more prominent in bicuspid group, which suggests that the neoaortic valve function would be deteriorated mainly by valve itself not root pathology.

Damus-Kay-Stansel procedure with ventricular septal defect enlargement.

A full-term infant who had tricuspid atresia with transposed great arteries, a ventricular septal defect, subpulmonary stenosis with posterior malalignment of the conus septum, bicuspid pulmonary valve, and a high-takeoff left coronary artery was referred to our institution. The subpulmonary stenosis gradually progressed and cyanosis worsened. We successfully performed a Damus-Kay-Stansel procedure and a bidirectional Glenn shunt concomitant with ventricular septal defect enlargement. The conus septum was resected along with thick fibrous tissue through both semilunar valves (without ventriculotomy). Postoperative echocardiography demonstrated that both the ventricular septal defect and the subpulmonary space were enlarged effectively without semilunar valve regurgitation.

Giant Pulmonary Artery Aneurysm in Bicuspid Pulmonary Valve: Does the Right Side Mimic the Left One?

Bicuspid pulmonary valve is a rare echocardiographic finding, particularly if not associated with other congenital heart diseases. We report the incidental case of a severe giant pulmonary arterial aneurysm associated to bicuspid pulmonary valve in an asymptomatic 79-year-old patient. Multimodality cardiac imaging was important for the correct diagnosis and to exclude any other potential complication. (Level of Difficulty: Beginner.)

Exome-Based Case-Control Analysis Highlights the Pathogenic Role of Ciliary Genes in Transposition of the Great Arteries.

Transposition of the great arteries (TGA) is one of the most severe types of congenital heart diseases. Understanding the clinical characteristics and pathogenesis of TGA is, therefore, urgently needed for patient management of this severe disease. However, the clinical characteristics and genetic cause underlying TGA remain largely unexplored. We sought to systematically examine the clinical characteristics and genetic cause for isolated nonsyndromic TGA. We recruited 249 patients with TGA (66 family trios) and performed whole-exome sequencing. The incidence of patent ductus arteriosus in dextro-TGA (52.7%) and dextrocardia/mesocardia in congenitally corrected TGA (32.8%) were significantly higher than that in other subtypes. A high prevalence of bicuspid pulmonic valve (9.6%) was observed in patients with TGA. Similar results were observed in a replication group of TGA (n=132). Through a series of bioinformatics filtering steps, we obtained 82 candidate genes harboring potentially damaging de novo, loss of function, compound heterozygous, or X-linked recessive variants. Established congenital heart disease-causing genes, such as FOXH1, were found among the list of candidate genes. A total of 19 ciliary genes harboring rare potentially damaging variants were also found; for example, DYNC2LI1 with a de novo putatively damaging variant. The enrichment of ciliary genes supports the roles of cilia in the pathogenesis of TGA. In total, 33% of the TGA probands had >1 candidate gene hit by putatively deleterious variants, suggesting that a portion of the TGA cases were probably affected by oligogenic or polygenic inheritance. The findings of clinical characteristic analyses have important implications for TGA patient stratification. The results of genetic analyses highlight the pathogenic role of ciliary genes and a complex genetic architecture underlying TGA.

1641 Bicuspid pulmonary valve - an unusual cause of dilated pulmonary artery

Abstract Introduction Dilated pulmonary artery is a common finding with a variety of possible aetiologies. We present a case of unexplained dilated pulmonary artery that was associated with bicuspid pulmonary valve identified by CMR. Case Presentation A 67-year-old female underwent mitral valve repair for severe mitral regurgitation. She had presented with breathlessness, and had severe mitral regurgitation due to a myxomatous valve with bileaflet prolapse, confirmed with TOE. Echo showed: normal LV dimensions, LVEF 66%. RV size and systolic function normal. Coronary angiography was normal and pulmonary hypertension was not present on right heart catheterization. At postoperative follow up she was well and asymptomatic, with echo showing good LV systolic function, intact mitral valve repair, and normal systolic pulmonary artery pressures (36mmHg). New T wave inversion was identified across the precordial leads so a CMR was performed. CMR showed normal LV volumes and function with no wall motion abnormality or LVH. There was no fibrosis or infarction in the late phase after Gadolinium contrast. The RV was dilated (73mm diameter at base) with normal systolic function. The main pulmonary artery was dilated at 42mm. Flow mapping showed no evidence of shunt (Qp:Qs = 1:1) and the atrial septum was intact. Pulmonary valve function was normal but the valve was bicuspid in morphology. Discussion Bicuspid pulmonary valve is a rare finding. In our case this was identified by CMR and was associated with a dilated pulmonary artery. Bicuspid pulmonary valve is most commonly identified in the context of pulmonary valve stenosis. Isolated pulmonary valve stenosis is a rare finding; it is most often associated with other congenital defects like Fallot. Pulmonary stenosis has been associated with pulmonary artery aneurysm, attributed to hemodynamic changes caused by the stenotic valve. However as with bicuspid aortic valve it is recognized that the "post stenotic dilation" is part of the pathology of bicuspid valve and does not need the changed haemodynamics of a stenotic valve. During embryogenesis neural crest cells are necessary for the normal development of the semilunar valves, the septation of the outflow tract into the aorta and pulmonary artery, and the remodeling of the aortic arch. Any defect in this migration can cause abnormalities or aneurysm of the aorta or pulmonary artery together with semilunar valve defects. A study of 3,861 donor hearts dissected at the European Homograft Bank revealed only four cases (0.1%) of bicuspid pulmonary valves. Bicuspid pulmonary valve with normal function can be difficult to identify at echocardiography. It can be well visualized by CMR and this can be combined with an assessment of the pulmonary arteries. It should be remembered as a rarer cause of dilated pulmonary artery when other causes have been excluded. Figure A. Dilated MPA. B. Dilated RV. C. and D. Bicuspid pulmonary valve. Abstract 1641 Figure. Dilated MPA. Bicuspid pulmonary valve