Poor prenatal detection rate of cardiac anomalies in Noonan syndrome (original) (raw)
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Prenatal Diagnosis, 2013
Objective Noonan syndrome is a frequent genetic disorder with autosomal dominant transmission. Classically, it combines postnatal growth restriction with dysmorphic and malformation syndromes that vary widely in expressivity. Lymphatic dysplasia induced during the embryonic stage might interfere with tissue migration. Our hypothesis is that the earlier the edema, the more severe postnatal phenotype. Method This retrospective study analyzed data from all 32 cases of Noonan syndrome diagnosed in the Medical Genetics Department of Hautepierre Hospital in Strasbourg, France, between 1995 and 2011. The postnatal evolution of Noonan syndrome was compared according to the presence of at least one prenatal ultrasound feature of lymphatic dysplasia. Results The most frequent prenatal ultrasound features found were increased nuchal translucency, cystic hygroma and polyhydramnios; their global prevalence was 46.4%. The presence of these features was not significantly associated with the postnatal phenotype of Noonan syndrome. Conclusion The results of our study indicate that prenatal ultrasound features of lymphatic dysplasia do not predict an unfavorable postnatal prognosis for Noonan syndrome.
Unusual combination of congenital heart defects in an infant with Noonan syndrome
Pediatric Cardiology, 1995
Congenital heart disease occurs in 35-50% of patients diagnosed with Noonan syndrome. We present an infant with an unusual combination of congenital heart defects not previously reported, including partial atrioventricular septal defect, polyvalvular dysplasia, and progressive hypertrophic cardiomyopathy. We discuss the possible interaction between these lesions that may have led to the patient's rapid demise.
Unusual Cardiac Phenotype in a Newborn with Noonan Syndrome
Congenital Heart Disease, 2010
Noonan syndrome (NS; MIM #163950) is an autosomal dominant syndrome characterized by hypertelorism, downward slanting of the palpebral fissures, ptosis, low-set posteriorly angulated ears, short stature, and congenital heart disease, most commonly pulmonary valve stenosis, hypertrophic cardiomyopathy (HCM), and atrial septal defects (ASDs). We report a 6-day-old girl who had an unusual combination of supravalvular pulmonary stenosis (PS), obstructive HCM, secundum ASD, and abnormal mitral chordae. Diagnosis was based on characteristic dysmorphic features and presence of HCM. Subsequent cardiac catheterization confirmed the presence of hemodynamically significant PS, and surgical correction was planned. Supravalvular PS is an unusual cardiac phenotype in NS and its association with HCM and ASD has not been reported previously. A detailed echocardiographic examination is mandatory in NS patients for accurate diagnosis of cardiac phenotype and for further treatment plans.c hd_343 178..181
The second case of Noonan syndrome: The association with unique multiple cardiac defects
Cardiology research and reports, 2020
Background: Noonan syndrome is a heterogeneous congenital disorder that can occur sporadically or inherited as an autosomal dominant disorder. It is characterized by a wide spectrum of phenotypic abnormalities that vary greatly in range and severity, and two patients with Noonan syndrome may have two different characteristic features. In many patients the syndrome characterized by craniofacial abnormalities including low set ears, hypertelorism , congenital heart defect, short stature, and undescended testes. Although pulmonary stenosis is the commonly associated congenital cardiac defects, a variety of cardiac defects may occur in this syndrome. Atrial septal defect, and patent ductus arteriosus are other well-recognized cardiac defects of this syndrome. The diagnosis of Noonan syndrome is entirely clinical as there is no specific diagnostic available Materials and methods: A ten month old boy who was referred to the pediatric neuropsychiatric clinic of the Children Teaching Hospital of Baghdad Medical City because of developmental delay associated with multiple congenital abnormalities was studied. Results: The boy had growth and developmental retardation, low set ears, hypertelorism, and smooth philtrum, undescended testes. Echocardiography showed interatrial septum, small atrial septal defect and closing patent ductus arteriosus. Conclusion: Noonan syndrome was previously reported only in one girl from Iraq. The first Iraqi boy with Noonan syndrome is reported in association with unique cardiac defects. The previously reported case and the case in this deport demonstrates the variability of the phenotype of this syndrome.
Successful Term Pregnancy In A Woman With Noonan Syndrome: A Case Report
The Internet Journal of Gynecology and Obstetrics, 2003
First described by Noonan and Ehmke (1963), Noonan Syndrome is an Autosomal Dominant condition with variable expression. It is associated with short stature, short neck with webbing (phenotypically like Turner Syndrome), cardiac anomalies particularly dysplastic pulmonary valve with Pulmonary stenosis(50%), atrial septal defect(10%), ventricular septal defect, patent ductus arteriosus, hypertrophic cardiomyopathy, a characteristic chest deformity with pectus excavatum inferiorly and pectus carinatum superiorly(70%), widespread nipple and hypertelorism. The chromosomes are normal. We report a case of a 29 yr old primigravida with Noonan Syndrome sought preconceptional counselling and conceived within 6 months. Throughout the antenatal period , she was followed up closely by a team comprising of Obstetrician, Cardiologist, Ultrasonologist and her General Practitioner.
Pregnancy in women with Noonan syndrome: report of two cases
Obstetrics and Gynecology, 1999
Background: Noonan syndrome is similar phenotypically to Turner syndrome, accounting for one in 1000 -2500 live births. Two thirds of patients have cardiac anomalies, half with pulmonary stenosis. Two cases of Noonan syndrome in pregnancy are presented, each woman with a different cardiac anomaly.
Noonan’s Syndrome Diagnosed at Second Decade of Life
International Journal of Radiology & Radiation Therapy
In 1963 Noonan and Ehmke described an autosomal dominant condition called Noonan syndrome in a group of patients with abnormal facial deformations, congenital heart diseases and various malformations. Its Incidence is 1 in 1000 to 2500 live births. One can miss the diagnosis in mildly affected cases as it usually depends on clinical features. We are presenting a case of a 24yr old Egyptian male, who was incidentally diagnosed to have Noonan's Syndrome by means of morphological, clinical and echocardiographic & magnetic resonance imaging (MRI) findings. This young patient had frequent spells of loss of consciousness. ECG showed runs of ventricular tachycardia with evidence of biventricular hypertrophy and severely impaired LV systolic function by ECHO. Treatment and prognosis varies from individual to individual according to its severity. Our patient was referred to electrophysiology department and underwent ICD implantation for secondary prevention of sudden cardiac death. This case report gives a clear cut management pathway when dealing with a newly identified adult Noonan. Most of the cases need multidisciplinary approach.
Noonan Syndrome – a Rare Case Report
Noonan syndrome [NS] is an autosomal dominant inherited condition that can be passed down through families. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. It causes abnormal development in many parts of the body. It is used to be called Turner-like syndrome. Though most of the cases are autosomally inherited some cases may be sporadic. We report a case of 11 year old male child presented to the hospital with features of cardiac failure and morphologic features of NS who has no similar history in the family.
Survival Implications: Hypertrophic Cardiomyopathy in Noonan Syndrome
Congenital Heart Disease, 2011
Objectives. To understand relationships and survival implications between structural heart disease and hypertrophic cardiomyopathy in Noonan syndrome (Noonan syndrome-HCM), we reviewed the clinical course of 138 children with Noonan syndrome diagnosed with cardiovascular abnormalities and compared survival with the 30 children with Noonan syndrome-HCM with 120 contemporaneous children with nonsyndromic HCM. Methods. Study cohorts represent consecutive cases diagnosed at our institution 1966 through 2006. Outcomes were modeled using multiphase parametric techniques followed by multivariable regression with bagging. Results. Cardiac abnormalities in Noonan syndrome: Cardiac abnormalities in the 138 Noonan syndrome children included pulmonary valve dysplasia (52%), hypertrophic cardiomyopathy (22%), atrial septal defect (20%), ventricular septal defect (10%), mitral valve dysplasia (6%), coarctation (3%), and Fallot's tetralogy (2%). Need for surgery was high but not different from children with structural defects coexisting with HCM. Overall, late survival in children with Noonan syndrome and cardiac defects was good (91 Ϯ 3% at 15 years), although significantly worse for those with Noonan syndrome-HCM (P < .01). Noonan syndrome-HCM vs. nonsyndromic HCM: In the 30 children with Noonan syndrome-HCM, structural cardiac malformations coexisted in 18 (57%). The incidence of structural cardiac malformations in nonsyndromic HCM was instead 3/120 (2.5%, P < .001). Risk-adjusted late survival was significantly worse for Noonan syndrome-HCM than for nonsyndromic HCM (P = .02). Conclusions. Noonan syndrome-HCM frequently coexists with structural cardiac malformations, whereas nonsyndromic HCM does not; their natural histories may therefore be different. Late survival is significantly worse for Noonan syndrome-HCM than nonsyndromic HCM.