scholarly journals Case Presentation - Biventricular Hypertrophy and Valvular Pulmonary Stenosis in Adult Patient with Noonan Syndrome: A Rare Case

2021 ◽  
Vol 2 (2) ◽  
pp. 77
Author(s):  
Tinton Pristianto ◽  
Rosi Amrilla Fagi
Keyword(s):  
Noonan Syndrome ◽  
Pulmonary Valve ◽  
Genetic Disorder ◽  
Pulmonary Stenosis ◽  
Pulmonary Regurgitation ◽  
Nasolabial Fold ◽  
Pulmonary Valve Stenosis ◽  
Case Presentation ◽  
Valvular Pulmonary Stenosis ◽  
Chest Deformities

Introduction: Noonan syndrome (NS) is a genetic disorder often accompanied by multiple congenital abnormalities. The prevalence of NS at live birth has been reported as one in 1000-2500 individuals. About 80% of patients with Noonan syndrome have abnormalities in the cardiovascular system.Case presentation:41-year-old Javanese male presented with chief complaint shortness of breath.  His Body Mass Index (BMI) was 18,3. He had an oval-shaped face with a short neck, thin hair, and prominent nasolabial fold. Echocardiography showed biventricular hypertrophy alongside pulmonary valve stenosis, pulmonary regurgitation and minimal pericardial effusion. Discussion: In 1962, Jacqueline Noonan, a pediatric cardiologist, identified 9 patients whose faces were very similar, had short stature, significant chest deformities, and with pulmonary stenosis. Noonan syndrome is a relatively common non-chromosomal syndrome that is similar to the phenotype of Turner's syndrome and presents with cardiovascular malformations. Adult with NS has distinctive facial features such as ptosis, wide eyes, low posterior rotation of ears and helical thickening, and a wide neck.Pulmonary stenosis is the most common heartdefect found in NS, besides HCM isalsoquitecommon inabout20% of patients. We reported a case of a patient with typical characteristics of NS such as pulmonary valve stenosis accompanied by biventricular ventricular hypertrophyand its typical face who survived through adulthood.Conclusion: Syndrome Noonan in the adult is quite rare and difficult to diagnose. We reported a case of an adult man with facial appearance and echocardiographic findings identical with Noonan Syndrome.

Treatment of severe refractory valvar pulmonary stenosis with primary transcatheter pulmonary valve implantation

2017 ◽  
Vol 27 (6) ◽  
pp. 1232-1234
Author(s):  
Kalyani R. Trivedi ◽  
Laurence Robinson ◽  
Alain Fraisse
Keyword(s):  
Noonan Syndrome ◽  
Surgical Repair ◽  
Pulmonary Valve ◽  
Pulmonary Stenosis ◽  
Balloon Dilation ◽  
Balloon Valvuloplasty ◽  
Pulmonary Valve Stenosis ◽  
Valve Implantation ◽  
Valvar Pulmonary Stenosis ◽  
Pulmonary Valve Implantation

AbstractSome patients with pulmonary valve stenosis do not respond to balloon valvuloplasty and must undergo surgical repair. We report the case of a 12-year-old child with pulmonary valve stenosis and Noonan syndrome in whom we performed transcatheter Melody pulmonary valve implantation after balloon dilation failed. The result was excellent. This technique can be proposed as an alternative to surgery in such cases.

Pulmonary Valve Cusp Augmentation for Pulmonary Regurgitation After Repair of Valvular Pulmonary Stenosis

2015 ◽  
Vol 99 (3) ◽  
pp. e57-e58 ◽  
Author(s):  
Yu Rim Shin ◽  
Han Ki Park ◽  
Young Hwan Park ◽  
Jo Won Jung ◽  
Young Jin Kim ◽  
...  
Keyword(s):  
Pulmonary Valve ◽  
Pulmonary Stenosis ◽  
Pulmonary Regurgitation ◽  
Valvular Pulmonary Stenosis

Pulmonary valve cusp augmentation for pulmonary regurgitation after percutaneous balloon pulmonary valvuloplasty of valvular pulmonary stenosis

2018 ◽  
Vol 28 (3) ◽  
pp. 507-510 ◽  
Author(s):  
Irfan Tasoglu ◽  
Atakan Atalay ◽  
Omer Nuri Aksoy ◽  
Vural Polat
Keyword(s):  
Pulmonary Valve ◽  
Pulmonary Stenosis ◽  
Pulmonary Regurgitation ◽  
Anterior Leaflet ◽  
Surgical Operation ◽  
Percutaneous Balloon ◽  
Expansion Technique ◽  
Valvular Stenosis ◽  
Valvular Pulmonary Stenosis ◽  
Polytetrafluoroethylene Patch

AbstractPulmonary valvular stenosis is a relatively common disorder, accounting for approximately 10% of all CHDs. Pulmonic valvular disease can get clinically detected at different ages of life. The more severe the obstruction, the earlier detected the valvular abnormality. Surgical pulmonary valvotomy has been available as a treatment since 1956. This article is about a case of pulmonary annular and valvular stenosis in a 1-year-old child, and it also explores surgical operation of this condition. Transannular patches are usually used within the 1st year of age in pulmonary annular and valvular stenosis. In recent years, anterior leaflet augmentation has been preferred for annulus enlargements. In our 1-year-old case, we expanded the annulus by the anterior leaflet expansion technique and we also augmented other leaflets by polytetrafluoroethylene patch.

Noonan syndrome and pregnancy outcomes

2022 ◽  
pp. 1-5
Author(s):  
Christopher A. Chow ◽  
Katherine H. Campbell ◽  
Josephine C. Chou ◽  
Robert W. Elder
Keyword(s):  
Caesarean Section ◽  
Noonan Syndrome ◽  
Neonatal Intensive Care ◽  
Pulmonary Valve ◽  
Heart Defects ◽  
Genetic Disorder ◽  
Pulmonary Stenosis ◽  
Retrospective Chart Review ◽  
Maternal Complications ◽  
Cardiac Procedures

Abstract Background: Noonan syndrome is a genetic disorder with high prevalence of congenital heart defects, such as pulmonary stenosis, atrial septal defect and hypertrophic cardiomyopathy. Scarce data exists regarding the safety of pregnancy in patients with Noonan syndrome, particularly in the context of maternal cardiac disease. Study design: We performed a retrospective chart review of patients at Yale-New Haven Hospital from 2012 to 2020 with diagnoses of Noonan syndrome and pregnancy. We analysed medical records for pregnancy details and cardiac health, including echocardiograms to quantify maternal cardiac dysfunction through measurements of pulmonary valve peak gradient, structural heart defects and interventricular septal thickness. Results: We identified five women with Noonan syndrome (10 pregnancies). Three of five patients had pulmonary valve stenosis at the time of pregnancy, two of which had undergone cardiac procedures. 50% of pregnancies (5/10) resulted in pre-term birth. 80% (8/10) of all deliveries were converted to caesarean section after a trial of labour. One pregnancy resulted in intra-uterine fetal demise while nine pregnancies resulted in the birth of a living infant. 60% (6/10) of livebirths required care in the neonatal intensive care unit. One infant passed away at 5 weeks of age. Conclusions: The majority of mothers had pre-existing, though mild, heart disease. We found high rates of prematurity, conversion to caesarean section, and elevated level of care. No maternal complications resulted in long-term morbidity. Our study suggests that women with Noonan syndrome and low-risk cardiac lesions can become pregnant and deliver a healthy infant with counselling and risk evaluation.

Results of pulmonary balloon valvuloplasty persist and improve at late follow-up in isolated pulmonary valve stenosis

2017 ◽  
Vol 27 (8) ◽  
pp. 1566-1570 ◽  
Author(s):  
John J. Parent ◽  
Michael M. Ross ◽  
Edgard A. Bendaly ◽  
John P. Breinholt
Keyword(s):  
Effective Treatment ◽  
Pulmonary Valve ◽  
Pulmonary Stenosis ◽  
Pulmonary Regurgitation ◽  
Balloon Valvuloplasty ◽  
Pulmonary Valve Stenosis ◽  
Inclusion Criteria ◽  
Long Term Outcomes

AbstractBackgroundPulmonary balloon valvuloplasty is a safe and effective treatment for children with pulmonary valve stenosis. A few studies evaluate the long-term outcomes of the procedure, particularly the degree of pulmonary regurgitation. We evaluated the outcomes of children >1 year following valvuloplasty for pulmonary valve stenosis.MethodsA retrospective analysis of children with pulmonary valve stenosis following pulmonary balloon valvuloplasty at a single institution was performed. Clinic summaries, catheterisation data, and echocardiographic data were reviewed. Inclusion criteria were isolated pulmonary valve stenosis, age <19 years at the time of intervention, and at least one echocardiogram performed at least 1 year after valvuloplasty.ResultsA total of 53 patients met inclusion criteria. The median age at valvuloplasty was 0.4 years (0.01–10.6 years). The last follow-up was 4.8±2.3 years following valvuloplasty. The pre-valvuloplasty peak instantaneous gradient by echocardiography was 60.6±14.6 mmHg. The peak gradient at the first postoperative echocardiography was reduced to 25.5±12 mmHg (p<0.001), and further decreased to 14.8±15.8 mmHg (p<0.001) at the most recent follow-up. The degree of regurgitation increased from before valvuloplasty to after valvuloplasty (p<0.001) but did not progress at the most recent follow-up (p=0.17). Only three patients (5.7%) required re-intervention for increasing pulmonary stenosis (two surgical; one repeat balloon). No significant procedural complications occurred.ConclusionsPulmonary balloon valvuloplasty remains a safe and effective treatment for children with isolated pulmonary valve stenosis, with excellent long-term outcomes and no mortality. A few patients require further intervention. Long-term follow-up demonstrates decreased, residual stenosis. Patients have a small, acute increase in pulmonary regurgitation following valvuloplasty, but no long-term progression.

scholarly journals Dysplastic pulmonary valve stenosis associated with unilateral absent first metacarpal: A rare association

2017 ◽  
Vol 5 ◽  
pp. 2050313X1772694 ◽  
Author(s):  
Ashwin Kodliwadmath
Keyword(s):  
Pulmonary Valve ◽  
Past History ◽  
Nyha Class ◽  
Pulmonary Stenosis ◽  
Pulmonary Valve Stenosis ◽  
Class 1 ◽  
Common Variety ◽  
Valvular Pulmonary Stenosis ◽  
Dysplastic Pulmonary Valve ◽  
Hand Anomalies

Context: Dysplastic pulmonary valve stenosis is a less common variety of valvular pulmonary stenosis. It is known to be part of Noonan syndrome. Bony hand anomalies in patients of pulmonary stenosis are very rare. Case report: A 50-year-old lady, with no significant past history, presented with slowly progressive breathlessness and fatigue, and had progressed from NYHA class 1 to 2 over 2 years. She had unilateral absent first metacarpal and diagnosed on workup to have dysplastic pulmonary valve stenosis and was treated with balloon valvuloplasty. Conclusion: Dysplastic pulmonary valve stenosis can rarely be associated with bony hand anomalies like absent first metacarpal.

scholarly journals Mid- to long-term follow-up of pulmonary valve replacement with BioIntegral injectable valve

2020 ◽  
Author(s):  
Simone Ghiselli ◽  
Cristina Carro ◽  
Nicola Uricchio ◽  
Giuseppe Annoni ◽  
Stefano M Marianeschi
Keyword(s):  
Cardiopulmonary Bypass ◽  
Right Ventricular ◽  
Tetralogy Of Fallot ◽  
Valve Replacement ◽  
Pulmonary Valve ◽  
Pulmonary Stenosis ◽  
Pulmonary Regurgitation ◽  
Pulmonary Valve Replacement

Abstract OBJECTIVES Chronic pulmonary valve (PV) regurgitation is a common late sequela after repair of congenital heart diseases like tetralogy of Fallot or pulmonary stenosis, leading to right ventricular dilatation and failure and increased late morbidity and mortality. Timely reoperation may lead to a complete right ventricular recovery. An injectable PV allows pulmonary valve replacement, with or without cardiopulmonary bypass, under direct observation, thereby minimizing the impact of surgery on cardiac function. The aim of this study was to evaluate the feasibility and mid- to long-term clinical outcomes with this device. METHODS From April 2007 to October 2019, a total of 85 symptomatic patients with severe pulmonary regurgitation or pulmonary stenosis underwent pulmonary valve replacement with an injectable stented pulmonary prosthesis. Data were collected from the international proctoring registry. Mean patient age was 26.7 years. The underlying diagnosis was repaired tetralogy of Fallot in 69.4% patients; moderate or severe pulmonary regurgitation was present in 72.9%. All patients had echocardiographic scans before the operation and during the follow-up period. A total of 54.1% patients also had preoperative/postoperative cardiac magnetic resonance imaging (MRI) or catheterization; 25.9% had off-pump implants. In 53% patients, pulmonary valve replacement was associated with the repair of other cardiac defects. RESULTS Minor postoperative complications were observed in 10.8% patients. The overall mortality rate was 2.3%; mortality after valve replacement was linked to a severe cardiac insufficiency and it was not related to a prosthesis failure; 1 prosthesis was explanted from 1 patient because of endocarditis, and 6% of patients developed PV stenosis; minor complications occurred in 4.8%. The mean follow-up period was 4.8 years (2 months–12.7 years); 42% of the patients were followed for more than 5 years. Follow-up echocardiography and cardiac MRI showed a significant reduction in RV size and low gradients across the PV. CONCLUSIONS An injectable PV may be implanted without cardiopulmonary bypass and in a hybrid operating theatre with minimal surgical impact. The bioprosthesis, available up to large sizes, has a low profile, laminar flow and no risk of coronary artery compression. Incidence of endocarditis is rare. The lack of a suture ring permits the implant of a relatively larger prosthesis, thereby avoiding a right ventricular outflow tract obstruction. This device permits future percutaneous valve-in-valve procedures, if needed. Results concerning durability are encouraging, and mid- to long-term haemodynamic performance is excellent.

scholarly journals Tissue Valve Replacement for Severe Calcified Pulmonary Stenosis: First time in BSMMU

2014 ◽  
Vol 9 (1) ◽  
pp. 54-55
Author(s):  
Rezwanul Haque Bulbul ◽  
Omar Sadeque Khan ◽  
Mohammad Samir Azam Sunny ◽  
Swadesh Ranjan Sarker ◽  
Mostafa Nuruzzaman
Keyword(s):  
Valve Replacement ◽  
Pulmonary Valve ◽  
Pulmonary Stenosis ◽  
Pulmonary Regurgitation ◽  
Right Ventricular Outflow Tract ◽  
Ventricular Outflow Tract ◽  
Pulmonary Valve Replacement ◽  
Tissue Valve ◽  
Biventricular Failure ◽  
First Time

Pulmonary valve replacement for pulmonary regurgitation is a common practise. Pulmonary stenosis relief or after release of right ventricular outflow tract obstruction, progressive pulmonary regurgitation leading to biventricular failure is a big problem. If early pulmonary valve replacement done by homograft or tissue valve then we can overcome this problem. In our case report we have done pulmonary valve replacement by Edward life science Tissue valve for calcified pulmonary valve. And our patient showed a good response after valve replacement. DOI: http://dx.doi.org/10.3329/uhj.v9i1.19514 University Heart Journal Vol. 9, No. 1, January 2013; 54-55

scholarly journals Multimodality lymphatic imaging of postoperative chylothorax in an infant with Noonan syndrome: a case report

2020 ◽  
Vol 25 (1) ◽  
Author(s):  
Kay T. Pham ◽  
Duraisamy Balaguru ◽  
Varaha S. Tammisetti ◽  
Carlos J. Guevara ◽  
John C. Rasmussen ◽  
...  
Keyword(s):  
Noonan Syndrome ◽  
Near Infrared ◽  
Surgical Intervention ◽  
Multimodality Imaging ◽  
Rare Complication ◽  
Genetic Disorder ◽  
Case Presentation ◽  
Drainage Patterns ◽  
Lymphatic Imaging ◽  
Cardiac Operations

Abstract Background Chylothorax is a rare complication of pediatric cardiac operations that occurs more frequently in children with Noonan syndrome, a genetic disorder associated with cardiac defects and lymphatic anomalies. Case presentation We report a case of postoperative chylothorax in a 6-month-old infant with Noonan syndrome where multimodality lymphatic imaging guided management was followed. Drainage patterns of the lymphatic capillaries in the lower and upper extremities were visualized during near-infrared fluorescence lymphatic imaging (NIRFLI). Dynamic magnetic resonance lymphangiography (MRL) further identified the site of leakage in the thoracic duct and subsequently guided surgical intervention. Conclusions Application of multimodality imaging allows for greater individualization of treatment and should be considered in patients with complex cases such as those with syndromes associated with a higher incidence of chylothorax. IRB Number: HSC-MS-13–0754, December 10, 2013

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