scholarly journals Natural history of supravalvular aortic stenosis and pulmonary artery stenosis

1990 ◽  
Vol 15 (7) ◽  
pp. 1625-1630 ◽  
Author(s):  
Christopher Wren ◽  
Paul Oslizlok ◽  
Catherine Bull
2020 ◽  
Vol 30 (4) ◽  
pp. 568-570 ◽  
Author(s):  
Thomas S. Davis ◽  
Monica S. Epelman ◽  
Peace C. Madueme ◽  
Karen S. Bender ◽  
Gul H. Dadlani

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.


2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Hassan Zamani ◽  
Kazem Babazadeh ◽  
Saeid Fattahi ◽  
Farzad Mokhtari-Esbuie

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.


2015 ◽  
Vol 18 (4) ◽  
pp. 841-845 ◽  
Author(s):  
M. Kander ◽  
U. Pasławska ◽  
M. Staszczyk ◽  
A. Cepiel ◽  
R. Pasławski ◽  
...  

Abstract The study has focused on the retrospective analysis of cases of coexisting congenital aortic stenosis (AS) and pulmonary artery stenosis (PS) in dogs. The research included 5463 dogs which were referred for cardiological examination (including clinical examination, ECG and echocardiography) between 2004 and 2014. Aortic stenosis and PS stenosis were detected in 31 dogs. This complex defect was the most commonly diagnosed in Boxers – 7 dogs, other breeds were represented by: 4 cross-breed dogs, 2 Bichon Maltais, 3 Miniature Pinschers, 2 Bernese Mountain Dogs, 2 French Bulldogs, and individuals of following breeds: Bichon Frise, Bull Terrier, Czech Wolfdog, German Shepherd, Hairless Chinese Crested Dog, Miniature Schnauzer, Pug, Rottweiler, Samoyed, West Highland White Terrier and Yorkshire Terrier. In all the dogs, the murmurs could be heard, graded from 2 to 5 (on a scale of 1-6). Besides, in 9 cases other congenital defects were diagnosed: patent ductus arteriosus, mitral valve dysplasia, pulmonary or aortic valve regurgitation, tricuspid valve dysplasia, ventricular or atrial septal defect. The majority of the dogs suffered from pulmonary valvular stenosis (1 dog had supravalvular pulmonary artery stenosis) and subvalvular aortic stenosis (2 dogs had valvular aortic stenosis). Conclusions and clinical relevance – co-occurrence of AS and PS is the most common complex congenital heart defect. Boxer breed was predisposed to this complex defect. It was found that coexisting AS and PS is more common in male dogs and the degree of PS and AS was mostly similar.


PEDIATRICS ◽  
1963 ◽  
Vol 32 (2) ◽  
pp. 180-185
Author(s):  
Richard D. Rowe

Eleven patients with pulmonary artery stenosis associated with a history of maternal rubella in the early months of the pregnancy are described. Seven were infants whose mothers had contracted rubella at the time of an epidemic in New Zealand in 1959. Eight patients suffered from either deafness or cataracts. All had associated simple cardiovascular anomalies, chiefly pulmonary valve stenosis or patent ductus arteriosus, but in four instances the additional anomalies were mild. The major physical sign permitting clinical diagnosis—transmission of the murmur to the lateral chest wall—is emphasized. It is suggested that rubella may be an important etiologic agent in pulmonary artery stenosis and that specific auscultatory measures should be taken during physical examination of infants born with a history of maternal rubella to establish whether or not this additional arterial anomaly exists. While progressive symptoms during childhood are rare, the late prognosis may be unfavorable.


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