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.

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.

scholarly journals Efficacy and safety of balloon valvuloplasty as a treatment of choice for pulmonary stenosis in children and adolescents

2014 ◽  
Vol 142 (9-10) ◽  
pp. 542-546
Author(s):  
Vojislav Parezanovic ◽  
Milan Djukic ◽  
Sanja Dzelebdzic ◽  
Tamara Ilisic ◽  
Igor Stefanovic ◽  
...  
Keyword(s):  
Congenital Heart ◽  
Pulmonary Valve ◽  
Heart Defects ◽  
Pulmonary Stenosis ◽  
Age Groups ◽  
Balloon Valvuloplasty ◽  
Pulmonary Artery Stenosis ◽  
Pulmonary Valve Insufficiency ◽  
Valve Insufficiency

Introduction. Pulmonary artery stenosis (PS) is a congenital heart defect which occurs in 10% of all congenital heart defects. Pulmonary balloon valvuloplasty (BVP) has been the treatment of choice of PS over the last 30 years. Objective. The purpose of this study was to evaluate the efficacy of this method based on middle-term hospital follow-up, and safety of BVP based on our experience. Methods. The study included 88 patients diagnosed with PS. The patients were divided into three groups based on the severity of the disease. Also, they were divided into two age groups in order to analyze the frequency of complications. Hemodynamic measurements and echocardiography results were recorded before, 24-36 hours after BVP and at the end of follow-up. Results. The studied group involved patients of average age 3.75?4.3 years (20 days to 17 years). Immediately after BVP a significant decrease of pressure gradient across the pulmonary valve (PV) was recorded in all patients; this result was similar in all 3 groups of patients regardless of the severity of stenosis (p<0.001). Complications of BVP occurred most commonly in children up to 12 months of age (ventricular tachycardia 4.5% and supraventricular tachycardia 6.8%). Pulmonary valve insufficiency after dilatation occurred in 6.6% of cases, and was most common in children aged up to 12 months. In 87 (98.9%) patients BVP was a definitive solution, and a significant residual stenosis was not recorded during follow-up. Conclusion. BVP is a safe and effective procedure in the treatment of isolated PS in children, regardless of the severity of stenosis but also regardless of patients? age.

Affective functioning and social cognition in Noonan syndrome

2011 ◽  
Vol 42 (2) ◽  
pp. 419-426 ◽  
Author(s):  
E. Wingbermühle ◽  
J. I. M. Egger ◽  
W. M. A. Verhoeven ◽  
I. van der Burgt ◽  
R. P. C. Kessels
Keyword(s):  
Social Cognition ◽  
Emotion Recognition ◽  
Noonan Syndrome ◽  
Heart Defects ◽  
Genetic Disorder ◽  
Recognition Task ◽  
Well Being ◽  
Facial Emotion Recognition ◽  
Facial Emotion ◽  
Clinical Group

BackgroundNoonan syndrome (NS) is a common genetic disorder, characterized by short stature, facial dysmorphia, congenital heart defects and a mildly lowered IQ. Impairments in psychosocial functioning have often been suggested, without, however, systematic investigation in a clinical group. In this study, different aspects of affective processing, social cognition and behaviour, in addition to personal well-being, were assessed in a large group of patients with NS.MethodForty adult patients with NS were compared with 40 healthy controls, matched with respect to age, sex, intelligence and education level. Facial emotion recognition was measured with the Emotion Recognition Task (ERT), alexithymia with both the 20-item Toronto Alexithymia Scale (TAS-20) and the Bermond–Vorst Alexithymia Questionnaire (BVAQ), and mentalizing with the Theory of Mind (ToM) test. The Symptom Checklist-90 Revised (SCL-90-R) and the Scale for Interpersonal Behaviour (SIB) were used to record aspects of psychological well-being and social interaction.ResultsPatients showed higher levels of cognitive alexithymia than controls. They also experienced more social distress, but the frequency of engaging in social situations did not differ. Facial emotion recognition was only slightly impaired.ConclusionsHigher levels of alexithymia and social discomfort are part of the behavioural phenotype of NS. However, patients with NS have relatively intact perception of emotions in others and unimpaired mentalizing. These results provide insight into the underlying mechanisms of social daily life functioning in this patient group.

Behavioural phenotype of noonan syndrome in adulthood

2011 ◽  
Vol 26 (S2) ◽  
pp. 820-820
Author(s):  
E. Wingbermuehle ◽  
J.I.M. Egger ◽  
I. van der Burgt ◽  
W.M.A. Verhoeven
Keyword(s):  
Social Cognition ◽  
Neuropsychological Assessment ◽  
Noonan Syndrome ◽  
Repeated Measures ◽  
Heart Defects ◽  
Genetic Disorder ◽  
Affective Processing ◽  
Behavioural Phenotype ◽  
Affective Information Processing ◽  
Affective Information

IntroductionNoonan syndrome (NS) is an autosomal dominant genetic disorder with an estimated incidence of 1:1,500 live births and is characterized by short stature, facial dysmorphisms and congenital heart defects. At present, mutations in seven different genes have been identified. NS is associated with impaired affective processing and subsequently increased levels of anxiety.ObjectivesNeuropsychological investigation of social cognition.AimsThe use of neuropsychological assessment as a tool for studying the contribution of cognition and behaviour to the expression of the Noonan phenotype.MethodsForty adult NS-patients and a matched group of healthy controls underwent extensive neuropsychological assessment. Next to the standard cognitive domains (i.e. intelligence, attention, memory, executive functioning) several tests for social cognition were included to explore affective information processing. Correlation analysis and repeated measures MANCOVA were used.ResultsMarked problems were found in the recognition of own and other's emotions, as well as in the ability to verbally express feelings. Alexithymia was significantly more prevalent in the NS-group. In addition, NS-patients displayed more mood and anxiety complaints than controls. A tendency was found to social desirability and agreeableness.ConclusionsImpairments in social cognition are common elements of NS behavioural phenotype in adults. With neuropsychological assessment, psychosocial immaturity, amenable traits and alexithymia could be identified. The latter increases the vulnerability for the development of mood and anxiety disorders.

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.

Comparison of Right Ventricular Stroke Work for Tetralogy Patient and Normal Subject

2008 ◽  
Author(s):  
Ashish Das ◽  
William Gottliebson ◽  
Rupak K. Banerjee
Keyword(s):  
Right Ventricular ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Pulmonary Valve ◽  
Heart Defects ◽  
Pulmonary Stenosis ◽  
The United States ◽  
Stroke Work ◽  
Loading Conditions ◽  
Clinical Issue

Tetralogy of Fallot (TOF), also called blue-baby syndrome is one of the most common congenital heart defects in children after infancy and is estimated to account for 10% of all congenital heart defects [3]. TOF consists of four interrelated lesions: i) ventricular septal defect ii) Pulmonary stenosis iii) Right ventricular (RV) hypertrophy and (iv) Overriding Aorta [3]. TOF has been successfully repaired for several decades (Fig. 1). There are now an estimated 100,000 adult “repaired TOF” patients in the United States alone. As a result, long-term sequelae of the disease and repair have become important clinical issue. Specifically, residual pulmonary valve insufficiency (PI) is one such accepted and often unavoidable sequela. PI, when severe, abnormally alters the RV loading conditions, thereby triggering RV hypertrophy and dilatation. In turn, RV dilatation can evolve into irreversible RV myocardial contractile dysfunction, and has been related to sudden death in many “repaired TOF” patients. To normalize RV loading conditions, pulmonary valve replacement is often necessary and should be performed prior to the onset of irreversible RV myocardial damage.

scholarly journals Noonan syndrome – then and now

1999 ◽  
Vol 9 (6) ◽  
pp. 545-546 ◽  
Author(s):  
Jacqueline Noonan
Keyword(s):  
Noonan Syndrome ◽  
Pulmonary Valve ◽  
Pulmonary Stenosis ◽  
Common Finding ◽  
Cardiac Ultrasound ◽  
Long Term Follow Up ◽  
Turner Phenotype ◽  
Dysplastic Pulmonary Valve

The report by Danetz, Donofrio and Embrey1 provides an interesting long term follow-up on the first patient diagnosed by me with what is now known as Noonan syndrome. In 1960, when this patient was seen, cardiac ultrasound was unavailable and left-sided cardiac catheterization uncommon. He had severe pulmonary stenosis, and did well following surgery. Unfortunately, his follow-up was not adequate and left-sided obstruction was not recognized until he became symptomatic some thirty years later. Early reports stressed the dysplastic pulmonary valve, with pulmonary stenosis as a common finding.2 By 1972, the report of Ehlers et al.3 brought attention to the left-sided involvement in the Turner phenotype.

scholarly journals Genetic testing for pulmonary stenosis

2018 ◽  
Vol 2 (s1) ◽  
pp. 58-60
Author(s):  
Yeltay Rakhmanov ◽  
Paolo Enrico Maltese ◽  
Carla Marinelli ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
...  
Keyword(s):  
Congenital Heart ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Pulmonary Valve ◽  
Heart Defects ◽  
Pulmonary Stenosis ◽  
Autosomal Recessive Inheritance ◽  
Live Births ◽  
Gene Test ◽  
Pulmonary Arterial

Abstract Pulmonary stenosis (PS) is a congenital pulmonary valve malformation. It can be classified as valvular, subvalvular or supravalvular. Isolated forms of PS are rare. PS is associated with the development of massive pulmonary arterial dilatation. Patients with PS have a high consanguinity rate and the disorder is highly familial, which is why knowing the genetic aetiology of this defect is important. Prevalence is estimated at about 4/10,000 live births, and incidence at about 10% of all children with congenital heart defects. PS has prevalently autosomal dominant and rarely autosomal recessive inheritance. This Utility Gene Test was developed on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

Severe Cardiopulmonary Disease in a Parturient With Noonan Syndrome

2020 ◽  
Vol 24 (4) ◽  
pp. 364-368
Author(s):  
Kara K. Siegrist ◽  
Robert J. Deegan ◽  
Susan D. Dumas ◽  
Susan S. Eagle
Keyword(s):  
Mitral Valve ◽  
Pulmonary Disease ◽  
Noonan Syndrome ◽  
Pulmonary Valve ◽  
Genetic Disorder ◽  
Management Strategies ◽  
Ventricular Outflow Tract ◽  
Left Ventricular ◽  
Obstructive Pulmonary Disease ◽  
Left Ventricular Outflow

Noonan syndrome is a relatively common genetic disorder and the second most common cause of congenital heart disease after trisomy 21. The spectrum of cardiac anomalies in Noonan syndrome typically involves pulmonary valve stenosis occasionally in conjunction with hypertrophic cardiomyopathy. Mitral valve involvement is a rare finding in Noonan syndrome and is most commonly associated with either mitral valve prolapse or abnormal valvular insertion causing left ventricular outflow tract obstruction. Patients with Noonan syndrome typically have preserved fertility and, given the success of cardiac surgery and medical management of heart failure in this population, are beginning to present more commonly as parturients in adulthood. Maternal physiologic changes during pregnancy introduce an added complexity to hemodynamic management and anesthetic considerations during labor and delivery. In this article, we present a case of a patient with Noonan syndrome with severe mitral stenosis, pulmonary valve insufficiency, and severe restrictive and obstructive pulmonary disease who presented preterm for delivery due to increased dyspnea at rest. Here we review the pathophysiology behind Noonan syndrome and peripartum management strategies in a patient with severe combined cardiac and pulmonary disease.

scholarly journals The added value of the electrocardiogram in Noonan syndrome

2021 ◽  
pp. 1-8
Author(s):  
Eefke Vos ◽  
Erika Leenders ◽  
Sterre R. Werkman ◽  
Floris E. A. Udink ten Cate ◽  
Jos M. T. Draaisma
Keyword(s):  
Noonan Syndrome ◽  
Genetic Disorder ◽  
Pulmonary Stenosis ◽  
Added Value ◽  
Axis Deviation ◽  
Qrs Complex ◽  
S Waves ◽  
Significant Difference ◽  
The Individual ◽  
Q Wave

Abstract Noonan syndrome is a genetic disorder characteried by short stature, typical facial features, developmental delay, and CHD. In this single-centre retrospective study, we analysed typical Noonan syndrome-related electrocardiographic features in 95 patients with clinically and molecularly confirmed Noonan syndrome. Typical Noonan syndrome-related electrocardiographic features are left axis deviation, small left precordial R-waves, large right precordial S-waves, abnormal Q-wave, and abnormal wide QRS complex. In this representative cohort, CHD was found in 59 patients (62.1%) and typical Noonan syndrome-related electrographic features in 60 patients (63.2%). The typical Noonan syndrome-related electrographic features were also increased over baseline in patients without CHD (41.7%). Of all 95 patients, left axis deviation was seen in 46.3%, small left precordial R-waves in 30.5%, large right precordial S-waves in 5.3%, and abnormal Q-wave and wide QRS complex in 2.1%. There was no significant difference in the frequency of the individual-specific electrographic features between the group with CHD and the group without CHD. However, there were significantly more patients with a small left precordial R-wave in the subgroup with pulmonary stenosis compared to patients without pulmonary stenosis. Conclusion: Specific Noonan syndrome-related electrographic features are frequently present in patients with Noonan syndrome, also in the absence of CHD. These results suggest that there may be a continuum of cardiac anomalies from overt CHD to milder abnormalities that are only seen on electrocardiogram.

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