Three cases of Paternally Transmitted Noonan Syndrome Associated with Pulmonary Valvular Stenosis in a Single Family: Rare Case Series (original) (raw)
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Isolated Pulmonary Valvular Stenosis -Noonan Syndrome - A Case Report
2009
Noonan syndrome is an autosomal dominant dysmorphic characterized by hypertelorism, a downward eyeslant, and low-set posteriorly rotated ears. Other features include short stature, a short neck with webbing or redundancy of skin, cardiac anomalies, epicanthic fold, deafness, motor delay, and a bleeding diathesis. In this case report a 20 years male presented with severe pulmonary stenosis with classical sketetal abnomalities.
Childhood Noonan Syndrome Presenting with Severe Pulmonary Stenosis: A Rare Case Report
International Journal of Medical Science And Diagnosis Research, 2023
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 13 year old male child presented to us with features of short stature, dysmorphic facies and severe pulmonary valvular stenosis without any family history of similar illness.
Cardiovascular and Cardiometabolic Journal (CCJ), 2021
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 card...
Familial Congenital Valvar Pulmonary Stenosis: Autosomal Dominant Inheritance
Pediatric Cardiology, 1996
A mother and three of her four children, one girl and two boys, who had valvar pulmonary stenosis are described. One child had an associated septum secundum atrial septal defect, and another had an associated ventricular septal defect. An autosomal dominant mode of inheritance is likely for the valvar pulmonary stenosis. The association of additional cardiac lesions in two of the three siblings raises the possibility of closely associated genetic loci.
Pediatric Cardiology, 2005
Noonan syndrome is the second most frequent congenital malformation syndrome, after Down syndrome, associated with cardiovascular abnormalities. The most prevalent cardiovascular abnormalities in Noonan syndrome are pulmonary stenosis and hypertrophic cardiomyopathy. We report the case of a 12-year-old girl with Noonan syndrome who had multiple cardiovascular abnormalities, including extensive bilateral coronary artery dilatation, valvular and supravalvular pulmonary stenosis, atrial septal defect, and mitral valve prolapse. Both coronary artery dilatation and supravalvular pulmonary stenosis, although rarely reported, are abnormalities of the cardiovascular system that may occur in Noonan syndrome.
Texas Heart Institute journal / from the Texas Heart Institute of St. Luke's Episcopal Hospital, Texas Children's Hospital, 2010
Noonan syndrome is an autosomal dominant dysmorphic syndrome. Pulmonary stenosis is the most common cardiac anomaly in Noonan patients, with an incidence of 60%. A 9-year-old girl was referred to our institution with pericardial effusion. Transthoracic echocardiography indeed confirmed massive pericardial effusion and revealed, further, valvular and arterial pulmonary vegetations that accompanied a dysplastic tricuspid pulmonary valve. We decided to perform emergency pericardial tube drainage and to continue the anti-biotic regimen for 2 more weeks before undertaking open-heart surgery. After 2 weeks, the patient underwent an operation wherein the valvular vegetations were excised and a pulmonary valve commissurotomy was performed, yielding a competent pulmonary valve with 3 distinct but moderately dysplastic cusps. In addition to the pulmonary valve, the main, left, and right pulmonary arteries were filled with mobile vegetations, which were removed during the procedure. In this pa...
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.
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.
Familial Valvular Pulmonic Stenosis Involving Three Siblings
Cardiovascular diseases, 1979
This report describes the cases of three mentally and physically well-developed siblings, 12, 10, and 8 years of age, with varying degrees of isolated valvular pulmonic stenosis not related to age. The severest lesion occurred in the middle patient and was associated with a right-to-left shunt through a patent foramen ovale. The three children had no other siblings, and there was no history of congenital heart disease among close relatives. These cases support the conclusion that genetic factors play a significant role in the development of certain congenital cardiac disorders.