Coronary myocardial bridging in Noonan syndrome: definitive diagnosis with high-resolution CT (original) (raw)
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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...
Japanese Circulation Journal, 2001
This report describes an adult patient with Noonan syndrome accompanied by biventricular hypertrophic cardiomyopathy causing isolated right ventricular outflow tract obstruction. Biventricular hypertrophic cardiomyopathy causing right-and/or left-side outflow tract obstruction, as well as valvular pulmonary stenosis, is relatively common in infants with Noonan syndrome. However, this condition without a dysplastic pulmonary valve, or indeed any polyvalvular dysplasia, is rare in adults with Noonan syndrome. Treatment with a-adrenergic receptor blocking agent improved the patient's symptoms. Because neither the etiologic and prognostic relationship nor the genetic linkage between hypertrophic cardiomyopathy associated with Noonan syndrome and non-syndromic hypertrophic cardiomyopathy is clearly defined, clinicopathological findings and further follow-up may provide important evidence for the pathogenesis of hypertrophic cardiomyopathy.
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.
Management of Cardiovascular Disorders in Patients with Noonan Syndrome: A Case Report
2017
The Noonan syndrome is a rare disorder, one of whose major complications is cardiovascular involvement. A wide spectrum of congenital heart diseases has been observed in this syndrome. The most common cardiac disorder is pulmonary valve stenosis, which has a progressive nature. Hypertrophic cardiomyopathy is less common, but its morbidity and mortality rates are high. We herein introduce a 12-year-old boy with the typical findings of the Noonan syndrome. His symptoms began from infancy, and there was a gradual exacerbation in his respiratory and cardiac manifestations with age. The cardiac involvement included right ventricular outflow tract and pulmonary valve stenosis, hypertrophic cardiomyopathy, and subaortic valve stenosis. Due to the progressive course of the disease, surgical repair was done. Although the patient had a difficult postoperative period, his general condition improved and he was discharged. At 3 months’ follow-up, his symptoms showed improvement. Additionally, th...
Management of Cardiovascular Disorders in Patients with Noonan Syndrome
2017
The Noonan syndrome is a rare disorder, one of whose major complications is cardiovascular involvement. A wide spectrum of congenital heart diseases has been observed in this syndrome. The most common cardiac disorder is pulmonary valve stenosis, which has a progressive nature. Hypertrophic cardiomyopathy is less common, but its morbidity and mortality rates are high. We herein introduce a 12-year-old boy with the typical findings of the Noonan syndrome. His symptoms began from infancy, and there was a gradual exacerbation in his respiratory and cardiac manifestations with age. The cardiac involvement included right ventricular outflow tract and pulmonary valve stenosis, hypertrophic cardiomyopathy, and subaortic valve stenosis. Due to the progressive course of the disease, surgical repair was done. Although the patient had a difficult postoperative period, his general condition improved and he was discharged. At 3 months' follow-up, his symptoms showed improvement. Additionally...
Klinische Wochenschrift, 1991
The case of a 50-year-old patient with hypertrophic obstructive cardiomyopathy is reported. The patient demonstrated somatic signs of the Turner phenotype, but a cytogenetically normal karyotype was shown. These findings were compatible with the diagnosis of Noonan syndrome. The most commonly diagnosed cardiac disease in this syndrome is pulmonary stenosis, followed by hypertrophic cardiomyopathy. The patient's prognosis is limited by the natural history or the typical complications of the underlying cardiac lesion.
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 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
Multiple left-sided cardiac lesions in one of Noonan's original patients
Cardiology in the Young, 1999
We describe a complex case of obstruction of the left ventricular outflow tract in one of Dr. Noonan's original patients. Intraoperative findings revealed pathology at the valvar, subvalvar and supravalvar positions. Patients with Noonan syndrome are traditionally described as having right-sided cardiac pathology. Review of the literature revealed left-sided lesions to occur in a substantial number of these patients. We therefore suggest the routine employment of cardiac ultrasonography in all patients with Noonan syndrome with attention directed toward left-sided pathology, as well as the frequent pulmonary valvar pathology.