Bicuspid Pulmonary Valve Research Articles

PP-226 Multimodality Imaging of Isolated Bicuspid Pulmonary Valve Leading to Pulmonay Stenosis

PP-226 Multimodality Imaging of Isolated Bicuspid Pulmonary Valve Leading to Pulmonay Stenosis

Coexisting Bicuspid Aortic and Pulmonary Valves with Normally Related Great Vessels Diagnosed by Live/Real Time Three‐Dimensional Transesophageal Echocardiography

Coexistence of bicuspid aortic and pulmonary valves in the same patient is a very rare entity identified mainly during surgery and postmortem. To the best of our knowledge, only one case has been diagnosed by two-dimensional echocardiography in a newborn with malposition of the great arteries but no images were presented. Here, we are reporting the first case of bicuspid pulmonary and aortic valves diagnosed by live/real time three-dimensional transesophageal echocardiography in an adult with normally related great arteries.

4D-Cine CT imaging of a bicuspid pulmonary valve

A 71-year-old woman underwent diagnostic workup for progressive shortness of breath. Transthoracic echocardiography showed a dilated main pulmonary artery (MPA) and an anomalous configuration of the pulmonary valve. CT revealed a bicuspid pulmonary valve (BPV) and confirmed MPA dilation. Further congenital abnormalities were excluded. An isolated finding of BPV is rather rare. To our knowledge we present the first 4-dimensional CT images of a BPV. As in this case, 4-dimensional cine cardiac CT may be helpful to reveal the underlying cause of MPA dilation.

Three-Dimensional Echocardiographic Views of Bicuspid Pulmonic Valve

A 69-year-old woman with known hypertension and atrial septal defect (ASD) presented with dyspnea on exertion and generalized edema. A grade 3/6 systolic murmur was heard at the left sternal border. Electrocardiography showed complete right bundle branch block and a chest radiography showed progressive cardiomegaly and pulmonary edema. Two-dimensional transthoracic echocardiography (TTE) showed a secundum ASD (2.4 × 1.7 cm sized) with left to right shunt and enlarged right heart (Fig. 1A). Main pulmonary artery was markedly dilated up to 5 cm (Fig. 1B) but the pulmonic valve was not well visualized. Therefore, we performed 3-dimensional transesophageal echocardiography (TEE) and confirmed the bicuspid pulmonic valve (BPV) with mild pulmonic valve regurgitation (Fig. 2, Supplementary movie 1). Cardiac catheterization derived pulmonary to systemic blood flow ratio (Qp/Qs) was 2.45 and mean pulmonary arterial pressure was 25 mmHg. As the superior rim of ASD was too short and not suitable for transcatheter closure, she underwent surgical closure of the large secundum ASD with an autopericardial patch. Fig. 1 A: Left: Secundum atrial septal defect in 2-dimensional transthoracic echocardiography (white arrow). Right: Color Doppler flow from left to right atrium (white arrow). B: Dilated main pulmonary artery (white arrow). Fig. 2 Left: Bicuspid pulmonic valve (BPV) in 3-dimensional transeso-phageal echocardiography (white arrow). Right: Magnified view of BPV (white arrow). BPV is a very rare congenital abnormality usually associated with other congenital heart diseases such as tetralogy of Fallot, pulmonary stenosis, and transposition of the great vessels.1) Interestingly, this case is the BPV accompanied by ASD. Generally, it's difficult or impossible to observe pulmonic valve directly in 2-dimensional TTE.2) In this case, we confirmed the BPV using 3-dimensional TEE. Therefore, 3-dimensional TEE is the simple and informative tool for evaluation of pulmonic valve morphology and function.

Prosthetic reconstruction of bicuspid pulmonary valve in tetralogy of Fallot.

Various techniques have been described for preserving pulmonary valve function in tetralogy of Fallot repair. In selected substrates, the pulmonary valve can be bicuspidized and preserved using polytetrafluoroethylene pericardial membrane. This study was a retrospective review of 20 patients aged 11 months to 31 years with tetralogy of Fallot and a bicuspid pulmonary valve (with anteroposterior cusps) who underwent intracardiac repair from August 2010 to January 2013. The anterior cusp was augmented using polytetrafluoroethylene pericardial membrane to preserve the valve hinge. A transannular patch was used in all cases. Data relating to surgical outcome, intensive care unit course, pulmonary regurgitation, and right ventricular outflow tract gradient were collected. There was no mortality. Predischarge pulmonary regurgitation was ≤grade 2 in 18 (90%) patients. One patient had an outflow gradient >40 mm Hg. On follow-up of 3-24 months, there was no increase in outflow gradient; 18.7% had progression of pulmonary regurgitation. In selected substrates, this technique is associated with minimization of pulmonary regurgitation and an excellent functional outcome. The utility of this technique needs to be validated over a longer time scale in a larger series.

Insufficient versican cleavage and Smad2 phosphorylation results in bicuspid aortic and pulmonary valves

Bicuspid or bifoliate aortic valve (BAV) results in two rather than three cusps and occurs in 1–2% of the population placing them at higher risk of developing progressive aortic valve disease. Only NOTCH-1 has been linked to human BAV, and genetically modified mouse models of BAV are limited by low penetrance and additional malformations. Here we report that in the Adamts5−/− valves, collagen I, collagen III, and elastin were disrupted in the malformed hinge region that anchors the mature semilunar cusps and where the ADAMTS5 proteoglycan substrate versican, accumulates. ADAMTS5 deficient prevalvular mesenchyme also exhibited a reduction of α-smooth muscle actin and filamin A suggesting versican cleavage may be involved in TGFβ signaling. Subsequent evaluation showed a significant decrease of pSmad2 in regions of prevalvular mesenchyme in Adamts5−/− valves. To test the hypothesis that ADAMTS5 versican cleavage is required, in part, to elicit Smad2 phosphorylation we further reduced Smad2 in Adamts5−/− mice through intergenetic cross. The Adamts5−/−;Smad2+/− mice had highly penetrant BAV and bicuspid pulmonary valve (BPV) malformations as well as increased cusp and hinge size compared to the Adamts5−/− and control littermates. These studies demonstrate that semilunar cusp malformations (BAV and BPV) can arise from a failure to remodel the proteoglycan-rich provisional ECM. Specifically, faulty versican clearance due to ADAMTS5 deficiency blocks the initiation of pSmad2 signaling, which is required for excavation of endocardial cushions during aortic and pulmonary valve development. Further studies using the Adamts5−/−; Smad2+/− mice with highly penetrant and isolated BAV, may lead to new pharmacological treatments for valve disease.

Pulmonary Valve Preservation Strategies for Tetralogy of Fallot Repair

was affirmed in a significant number of patients who tolerated the persistent effects of right ventricular volume overload for many years. In a significant number of postoperative patients, however, long-term complications of pulmonary regurgitation, residual ventricular septal defects (VSD), distal pulmonary artery stenosis, right ventricular dysfunction, atrial or ventricular arrhythmias, and exercise intolerance 2-5 required further operative intervention to address the residual defects, perform concomitant arrhythmia surgery, and pulmonary valve insertion.

Aortic Root Replacement in a Patient with Bicuspid Pulmonary Valve Late after Arterial Switch Operation

Mild to moderate neoaortic root dilatation late after arterial switch operation (ASO) is a well-documented morbidity, but rarely needs surgical replacement. Here, we report on a 22-year-old man, who developed marked dilatation of neoaortic root and needed an aortic root replacement with mechanical conduit. His aortic valve was bicuspid. Only three cases have been reported for surgical replacement of aortic root after ASO, and two of them had bicuspid neoaortic valves. We suspect that a bicuspid neoaortic valve may be a risk factor for marked dilatation of the aortic root late after ASO.

Invited Commentary

Prêtre and colleagues [1] report a novel technique of reconstituting the pulmonary annulus and valve complex in repaired tetralogy of Fallot (TOF) patients having a dilated right ventricle related to a transannular patch (TAP) repair. The strategy was used in 23% (12/52) of reoperative patients, with success occurring in 8 of the 12. The reconstituted valve was fully competent in 5 patients and had a mild leak in 3. Gradients were trivial in the 5 patients who had a tricuspid valve and up to a peak gradient of 23 mm Hg for the 3 patients having a bicuspid pulmonary valve.

Bicuspid pulmonary valve implantation using polytetrafluoroethylene membrane: early results and assessment of the valve function by magnetic resonance imaging

The durability of bioprosthetic valves in the pulmonary position is suboptimal. The objectives of this study were to evaluate the early results of polytetrafluoroethylene (PTFE) bicuspid pulmonary valve (PV) implantation and to better define the function of this valve by magnetic resonance imaging (MRI). Fifty-six patients who underwent PTFE bicuspid PV implantation between June 2009 and August 2011 were retrospectively analysed. The median age was 17.5 years and median valve size was 26 mm. Fundamental diagnoses were tetralogy of Fallot (n = 38), pulmonary atresia with ventricular septal defect (n = 8), double outlet right ventricle (n = 7) and absent PV syndrome (n = 3). Thirty-two patients with pulmonary regurgitation (PR) underwent MRI preoperatively and 22 of them underwent follow-up MRI at a median of 6.7 months postoperatively. There was one early death. Postoperative echocardiography (n = 53) showed no or trivial PR in 49 patients and mild PR in 4. Median follow-up duration was 15.2 months. There was no late death or reoperation. Follow-up echocardiography (n = 41) performed at a median of 7.5 months postoperatively showed no or trivial PR in 33 patients and mild PR in 8 patients. Follow-up MRI showed a significant reduction in right ventricular volumes and improvement in biventricular function. The median PR fraction of this valve was 10%. Early results of bicuspid PV implantation using PTFE membrane were satisfactory. PTFE bicuspid PV demonstrated excellent performance for the short term as evidenced by echocardiography and MRI. Long-term follow-up is mandatory to determine the durability of this valve.

4-Dimensional Cardiac Magnetic Resonance in a Patient With Bicuspid Pulmonic Valve: Characterization of Post-Stenotic Flow

![Figure][1] [![Graphic][3] ][3][![Graphic][4] ][4][![Graphic][5] ][5] A 33-year-old woman was referred to a cardiologist for an early systolic ejection click and grade III/VI mid peaking systolic murmur at the upper left sternal border. An echocardiogram revealed moderate

Isolated bicuspid pulmonary valve in adult diagnosed by three-dimensional transthoracic echocardiography

Isolated bicuspid pulmonary valve is a rare arterial valve anomaly with very few reports in the literature, which regard overall cases of postmortem diagnosis. However, the true incidence of bicuspid pulmonary valve could be underestimated because of the difficulty in imaging pulmonary valve morphology with conventional two-dimensional transthoracic echocardiography (TTE). We report a case of isolated bicuspid pulmonary valve in an adult diagnosed by three-dimensional TTE. Off line multidimensional analysis of full-volume 3D allowed to obtain a short axis view of pulmonary valve showing a bicuspid valve characterized by an anterior and a posterior cups, normally thickened and with preserved systolic opening.

Bicuspid Pulmonary Valve With Atrial Septal Defect Leading to Pulmonary Aneurysm

Pulmonary artery aneurysms are rare. We describe 2 adult patients with pulmonary artery aneurysm with normal pulmonary pressure associated with bicuspid pulmonary valve and atrial septal defect. One patient presented with moderate pulmonary valve stenosis and was treated with open surgery; the other patient had a small atrial septal defect and mild pulmonary valve insufficiency and is periodically still being evaluated. Hemodynamic alterations associated with a pulmonary artery aneurysm are described; the influence of additional volume overload and intrinsic wall abnormalities in pulmonary valvular lesions as potential triggers for the development of these aneurysms are analyzed and therapeutic strategies are discussed.

Bicuspid pulmonary valve in transposition of the great arteries: impact on outcome

Long-term evaluation of the impact of bicuspid pulmonary valve on neoaortic valve regurgitation and aortic root dilatation (ARD) after arterial switch operation (ASO) for transposition of the great arteries (TGA). Between January 1987 and March 2010, 980 neonates underwent ASO for TGA. A total of 40 patients (4.0%) had a pulmonary bicuspid valve with no significant left ventricular outflow tract obstruction. In this group, 11 patients (28%) had associated ventricular septal defect, three hypoplastic aortic arch, and three had a right ventricular hypoplasia. No pulmonary valvuloplasty was attempted. Mean follow-up was 7.7 ± 5.5 years. Echocardiography evaluations of neoaortic valve function and morphology and aortic root dimensions were performed. There were two hospital deaths (5%) related to hypoplastic right ventricle and left ventricular dysfunction, and no late death yielding an actuarial survival to 95% SD at 1, 5, and 10 years. At last follow-up, five patients (12%) had mild-to-moderate aortic regurgitation (AR). None had aortic valve stenosis. ARD was noted in 28% of the patients (Z-score up to +3). One patient needed a Bentall procedure for significant AR and severe dilatation of the ascending aorta at 11 years of age. As many as four patients underwent reoperation (10%) for stenosis of the left coronary artery. Freedom from reoperation was 95% SD, 88% SD, and 75% SD at 1,5, and 10 years, respectively. ASO is a safe option for TGA associated with a well-functioning bicuspid pulmonary valve with low morbidity and mortality. Prevalence of AR was not particularly high. Even though ARD was frequent, neoaortic bicuspid valve did not represent a high risk for aortic reoperation. Long-term individual follow-up is mandatory to observe the potential risk of root dilatation and AR.

Three-dimensional transesophageal echocardiography in Ebstein's anomaly

Three-dimensional (3D) transthoracic echocardiography has advantages over traditional two-dimensional (2D) echocardiography in visualizing tricuspid valve morphology in Ebstein's anomaly. We describe the application of intra-operative 3D transesophageal echocardiography during a tricuspid valve repair procedure in a patient with Ebstein's anomaly. Intra-operatively three-dimensional transesophageal echocardiographic (3D TEE) data sets revealed morphology and function of the tricuspid valve, right ventricle outflow tract (RVOT) and pulmonary valve before and after repair. Tricuspid valve leaflet morphology and coaptation as visualized with 3D TEE proved to be consistent with intra-operative findings. Analysis of the tricuspid valve, RVOT and pulmonary valve in the multi-planar review (MPR) mode revealed a bicuspid pulmonary valve, which had not been noticed on the preoperative 2D echocardiographic work-up. In this patient with Ebstein's anomaly, 3D TEE provided additional information on morphology and function of tricuspid valve, RVOT and pulmonary valve.

Polytetrafluoroethylene Bicuspid Pulmonary Valve Implantation: Experience With 126 Patients

This article reports our initial experience in 126 consecutive patients treated with placement of a surgically created polytetrafluoroethylene (PTFE) bicuspid pulmonary valve at The Congenital Heart Institute of Florida (CHIF). A bicuspid pulmonary valve is created with PTFE and sutured into the right ventricular outflow tract. PTFE bicuspid pulmonary valves were placed in 126 patients (age: range, 3.1-64.7 years, mean, 17.9 years; weight: range, 14.2-113.6 kg, mean, 55.4 kg). All patients had pulmonary insufficiency, pulmonary stenosis, or both, most commonly after previous repair of tetralogy of Fallot (71 patients). Follow-up was up to 8.3 years (range, 0-8.3 years, mean, 3.34 years). Operative mortality was 1 patient (0.8%). Late mortality was non-valve-related in 3 patients (2.4%). The initial 84 patents in this series received valves constructed from PTFE with 0.6-mm thickness. The next 42 patients received valves constructed from PTFE with 0.1-mm thickness. Six patients of 126 (4.8%) required replacement of the PTFE bicuspid pulmonary valve because of immobile and calcified leaflets. All 6 who required replacement of the PTFE bicuspid pulmonary valve initially received a valve constructed from porous 0.6-mm PTFE material. We currently use nonporous 0.1-mm PTFE, which does not allow cellular in-growth and thickening. Early echocardiographic follow-up of these valve leaflets made with 0.1-mm PTFE has demonstrated improved leaflet mobility and pliability and lower transvalvar gradients. PTFE bicuspid pulmonary valve implantation is safe and effective and demonstrates acceptable performance for the intermediate term. It is anticipated that using thinner 0.1-mm PTFE will improve valve function and durability. Long-term follow-up is necessary to determine the true value of this technique.

Live/Real Time Three‐Dimensional Transthoracic Echocardiographic Assessment of Transposition of the Great Arteries in the Adult

We studied 11 adult patients with dextro-transposition and 5 adult patients with levo-transposition (corrected transposition) of the great arteries with real time two-dimensional (2DTTE) and live/real time three-dimensional transthoracic echocardiography (3DTTE). All patients with dextro-transposition underwent a Mustard or Senning procedure during infancy. Incremental findings provided by 3DTTE and not delineated by 2DTTE were (a) comprehensive examination of all three leaflets of the tricuspid valve including the detection and measurement of anatomic defects in the leaflets and the assessment of systolic noncoaptation and segmental prolapse; (b) en face viewing and measurement of vena contracta areas of the valvular regurgitation jets and the assessment of regurgitant volumes; (c) en face viewing of the intra-atrial baffle and localization and measurement of baffle defects as well as the measurement of vena contractas of the baffle leaks; (d) recognition of a bicuspid pulmonary valve; and (e) the quantitative assessment of left ventricular outflow tract obstruction. 3DTTE appears to be a useful noninvasive modality which could supplement 2DTTE in the comprehensive assessment of adult patients with transposition of the great arteries.

The significance of pulmonary annulus size in the surgical management of transposition of the great arteries with ventricular septal defect and pulmonary stenosis

Aortic translocation has received growing attention in the management of complete transposition with ventricular septal defect and pulmonary stenosis, but the criteria regarding pulmonary stenosis for selecting this option have yet to be established. The aim of this study is to evaluate the significance of pulmonary annulus size with the outcome after the arterial switch operation. Between November 1996 and September 2008, 250 patients underwent the arterial switch operation for complete transposition. Among them, 8 patients with a pressure gradient greater than 30 mm Hg, bicuspid pulmonary valve, and an aortic Z-score of the pulmonary annulus less than 0 were included in this retrospective study. The median age was 19.1 months (range, 0.5-80.0 months). The median follow-up was 39.7 months (range 9.1-139.5 months). At latest follow-up, the Z-score of the neoaortic annulus increased from -1.50 + or - 1.13 (range, -3.42 to -0.35) to 1.10 + or - 1.15 (range, -0.8 to 2.10) (P < .01). No patient had a significant pressure gradient across the left ventricular outflow tract. There was 1 early death and there were no late deaths. Two reoperations were performed in 1 patient for neoaortic stenosis at 81 months and 110 months after the operation. Latest echocardiogram revealed grade 0 or 1 neoaortic insufficiency. It was possible to extend the indication for the arterial switch operation with acceptable outcome to the patient with a Z-score of about -3 of the pulmonary annulus despite bicuspid pulmonary valve. Inasmuch as the arterial switch operation has benefits over the other options, a large-scale study is required for more reasonable triage in this group of patients.

Partial trisomy 19p13.3 and partial monosomy 1p36.3: Clinical report and a literature review

We report on a 15-month-old girl with a deletion of the distal short arm of chromosome 1p36.3, partial trisomy of the short arm of chromosome 19p13.3, growth and developmental delay, and multiple anomalies including microcephaly, bifrontal prominence, obtuse frontonasal angle, short columella, hypertelorism, sacral dimples, and a bicuspid pulmonary valve. Based on our FISH mapping studies, we estimate the size of the trisomic region of 19p.13.3 to be approximately 3.17 Mb, and the region of monosomy for 1p36.3 as 1.3 Mb. This is the first report of a patient with partial trisomy 19p13.3 and partial monosomy p36.3.

Atresia of the Common Pulmonary Vein-A Rare Congenital Anomaly

Early atresia of the common pulmonary vein (ACPV) leads to total anomalous pulmonary venous drainage, while late atresia or incomplete absorption leads to common pulmonary vein atresia and cor triatriatum sinister (both of which are rare). We report seven cases of atresia of the common pulmonary vein at autopsy. Retrospective case records studied. Tertiary care teaching hospital affiliated to medical college in Mumbai, India. The clinical and autopsy records of neonates and infants diagnosed with ACPV over a period of 11 years were reviewed. The demographic data, clinical features, and results of investigations were correlated with the cardiac findings at necropsy. Seven neonates and infants (five males and two females) had ACPV. Six babies presented at birth and expired within 48 hours. They had a homogeneous group of symptoms of cyanosis since birth with respiratory distress and/or features of congestive cardiac failure. One had perimembranous ventricular septal defect with bicuspid pulmonary valve and atresia of aortic valve. Two had dysmorphic facial features suggestive of Down's syndrome. Isolated ACPV was seen in only two patients. Asplenia syndrome was seen in three patients. Marked dilatation of the pulmonary lymphatics was identified in three patients. Early atresia of the common pulmonary vein, an extremely rare abnormality, manifests in early infancy/neonatal period and needs urgent corrective surgery. It is associated with other congenital heart disorders and extracardiac manifestations as well.