scholarly journals Williams-Beuren's Syndrome: A Case Report

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Hassan Zamani ◽  
Kazem Babazadeh ◽  
Saeid Fattahi ◽  
Farzad Mokhtari-Esbuie
Keyword(s):  
Aortic Stenosis ◽  
Pulmonary Artery ◽  
Williams Syndrome ◽  
Congenital Heart ◽  
Heart Defects ◽  
Cognitive Disorder ◽  
Artery Stenosis ◽  
Cervical Region ◽  
Pulmonary Artery Stenosis ◽  
Heart Murmur

Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD), skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3/6) in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH) was performed and the result was: 46.XX, ish del (7q11.2) (ELN X1) (7q22 X2) ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome.Conclusion. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem.

MRI detection of occult venous anomalies in a patient with Williams syndrome: a case report

2020 ◽  
Vol 30 (4) ◽  
pp. 568-570 ◽  
Author(s):  
Thomas S. Davis ◽  
Monica S. Epelman ◽  
Peace C. Madueme ◽  
Karen S. Bender ◽  
Gul H. Dadlani
Keyword(s):  
Case Report ◽  
Aortic Stenosis ◽  
Pulmonary Artery ◽  
Williams Syndrome ◽  
Artery Stenosis ◽  
Congenital Disorder ◽  
Pulmonary Artery Stenosis ◽  
Supravalvar Aortic Stenosis ◽  
Venous Ectasia ◽  
Arterial Stenoses

AbstractWilliams syndrome is a multisystem, congenital disorder which is commonly associated with arterial stenoses: supravalvar aortic stenosis and peripheral pulmonary artery stenosis. Venous abnormalities have not been previously reported in children with Williams syndrome. We present a case of a 3-year-old girl with Williams syndrome and diffuse venous ectasia as detected by MRI.

scholarly journals Identification and characterization of a novel ELN mutation in congenital heart disease with pulmonary artery stenosis

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Cuilan Hou ◽  
Junmin Zheng ◽  
Wei liu ◽  
Lijian Xie ◽  
Xiaomin Sun ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Pulmonary Artery ◽  
Molecular Mechanism ◽  
Protein Level ◽  
Congenital Heart ◽  
Artery Stenosis ◽  
Pulmonary Artery Stenosis ◽  
Functional Component ◽  
Functional Changes

AbstractCongenital heart defects, one of the most common birth defects, affect approximately 1% of live birth globally and remain the leading cause of infant mortality in developed countries. Utilizing the pathogenicity score and inheritance mode from whole exome sequencing results, a heterozygous mutation (NM_001278939.1: c.1939G>T, p.Gly647Ter) in elastin (ELN) was identified among 6,440 variants in a female proband born with an atrial septal defect accompanied by pulmonary artery stenosis. Results of RT-PCR showed that the mutation (NM_001278939.1: c.1939G>T, p.Gly647Ter) did not affect the expression levels of ELN mRNA but increased protein level. The content of ELN truncate (functional component) was significantly lower in both the intracellular and extracellular compartments after mutation. These results indicate that the ELN mutation (NM_001278939.1: c.1939G>T, p.Gly647Ter) affected the protein truncate, which may be a functional component of ELN and play crucial roles for this pedigree. Here we report of an ELN heterozygous variant associated with congenital heart disease accompanied with pulmonary artery stenosis, which is less common. Based on our results, we speculate that this may be the main molecular mechanism underlying the mutation-led functional changes, and propose that the decrease of ELN protein level may cause this pedigree vascular abnormality, especially pulmonary artery stenosis, and reinforce the view that ELN insufficiency is the primary cause of these vascular lesions. This may be the main molecular mechanism underlying the mutation-led functional changes. Thus, systematic analysis not only enables us to better understand the etiology of this disease but also contributes to clinical and prenatal diagnosis.

scholarly journals On non-healing of the interventricular septum of the heart (Roger's disease)

1935 ◽  
Vol 31 (1) ◽  
pp. 27-35
Author(s):  
F. F. Piaid
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Ventricular Septal Defect ◽  
Pulmonary Artery ◽  
Congenital Heart ◽  
Septal Defect ◽  
Interventricular Septum ◽  
Artery Stenosis ◽  
Pulmonary Artery Stenosis

Simple uncomplicated forms of congenital heart disease in adults - pulmonary artery stenosis, non-healing of the Botall's duct - although they are a rarity, still studied more or less enough, and their lifelong recognition is not particularly difficult. Unfortunately, this cannot be said of another heart anomaly, a ventricular septal defect.

The clinic pattern of pulmonary artery vasoconstriction in children (morbus coelius)

1927 ◽  
Vol 23 (10) ◽  
pp. 1041-1045
Author(s):  
B. M. Deich
Keyword(s):  
Pulmonary Artery ◽  
Birth Defects ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Pulmonary Artery Stenosis ◽  
Septal Defects ◽  
Nosological Entity ◽  
Simultaneous Existence ◽  
Large Vessels

"Blue disease" is not a separate nosological entity, but represents a certain syndrome accompanying congenital heart defects. Despite the fact that this disease has long been known, nevertheless, its pathogenesis has not yet been definitively established. The former authors explained various individual forms of cardiac birth defects by this syndrome, but now it has been established that "blue disease" is a collective concept and occurs, according to Barye, in septal defects and anomalies of large vessels, and according to Fallop, in simultaneous existence of pulmonary artery stenosis and non-cavitary septum as well as in non-cavitary ductus botalus.

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