CLINICAL AND GENETIC CHARACTERISTICS AND FEATURES OF MANAGEMENT OF PATIENTS WITH WILLIAMS SYNDROME: DESCRIPTION OF THREE CASES AND LITERATURE REVIEW

2021 ◽  
Vol 100 (4) ◽  
pp. 141-147
Author(s):  
V.G. Antonenko ◽  
◽  
N.P. Kotlukova ◽  
T.V. Markova ◽  
D.V. Svetlychnaya ◽  
...  
Keyword(s):  
Literature Review ◽  
Aortic Stenosis ◽  
Blood Vessels ◽  
Williams Syndrome ◽  
Congenital Anomalies ◽  
Clinical Manifestations ◽  
Chromosome 7 ◽  
Supravalvular Aortic Stenosis ◽  
Genetic Characteristics ◽  
Behavioral Profile

Williams syndrome (OMIM 194050) is a multisystem inherited disorder associated with microdeletion of the long arm of chromosome 7 (q11.23). Typical clinical manifestations of the syndrome are supravalvular aortic stenosis and other congenital anomalies of the heart and blood vessels, facial abnormalities, neonatal hypercalcemia, lag in physical, psychomotor and mental development, unusual cognitive and behavioral profile. Patients with WS require medical supervision and prevention of complications throughout their lives. The paper presents an overview of the results of studies devoted to the study of various aspects of diagnosis and management of patients with WS. The description of the three new cases of WS addresses the main problems and possibilities of diagnosis of the disease in patients with different clinical manifestations.

An infant with suspected missed diagnosis of Williams syndrome failed weaning off CPB after surgical correction of pulmonary stenosis: a case report and literature review

Perfusion ◽  
2021 ◽  
pp. 026765912110468
Author(s):  
Yuan Yuan ◽  
Ronghua Zhou
Keyword(s):  
Aortic Stenosis ◽  
Williams Syndrome ◽  
Myocardial Protection ◽  
Developmental Disorder ◽  
Pulmonary Stenosis ◽  
Surgical Correction ◽  
Supravalvular Aortic Stenosis ◽  
Cardiac Insufficiency ◽  
Valvular Stenosis ◽  
Missed Diagnosis

Williams syndrome (WS) is a rare congenital developmental disorder caused by the deletion of between 26 and 28 genes on chromosome 7q11.23. For patients with WS, in view of the particularity of the supravalvular aortic stenosis, choosing appropriate arterial cannula, maintaining higher perfusion pressure as well as strengthening myocardial protection during cardiopulmonary bypass (CPB) is essential to the clinical outcome. Here, we report a child with pulmonary artery valvular stenosis who failed to wean off CPB because of malignant arrhythmias and cardiac insufficiency after surgical correction of pulmonary valvular stenosis. With the assistance of extracorporeal membrane oxygenation (ECMO), emergency cardiac catheterization revealed supravalvular aortic stenosis (SVAS), which suggests a suspected missed diagnosis of WS. Finally, under the support of ECMO, the cardiac function gradually returned to normal, and the child was discharged 23 days after surgery.

scholarly journals Supravalvular Aortic Stenosis Caused by a Familial Chromosome 7 Inversion Disrupting the ELN Gene Uncovered by Whole-Genome Sequencing

2019 ◽  
Vol 10 (4) ◽  
pp. 209-213
Author(s):  
Linda Pons ◽  
Patrice Bouvagnet ◽  
Mohamed Bakloul ◽  
Sylvie Di Filippo ◽  
Adrien Buisson ◽  
...  
Keyword(s):  
Aortic Stenosis ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Chromosome 7 ◽  
Supravalvular Aortic Stenosis ◽  
Whole Genome

scholarly journals Anaesthetic management of a patient with Williams syndrome undergoing aortoplasty for supravalvular aortic stenosis

1998 ◽  
Vol 45 (12) ◽  
pp. 1203-1206 ◽  
Author(s):  
Shinji Kawahito ◽  
Hiroshi Kitahata ◽  
Hideyuki Kimura ◽  
Katsuya Tanaka ◽  
Yoko Sakai ◽  
...  
Keyword(s):  
Aortic Stenosis ◽  
Williams Syndrome ◽  
Anaesthetic Management ◽  
Supravalvular Aortic Stenosis

Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7

1993 ◽  
Vol 2 (7) ◽  
pp. 869-873 ◽  
Author(s):  
Timothy M. Olson ◽  
Virginia V. Michels ◽  
Noralane M. Lindor ◽  
Gregory M. Pastores ◽  
JamesL. Weber ◽  
...  
Keyword(s):  
Aortic Stenosis ◽  
Autosomal Dominant ◽  
Chromosome 7 ◽  
Supravalvular Aortic Stenosis

Supravalvular Aortic Stenosis Without Williams Syndrome

1996 ◽  
Vol 44 (04) ◽  
pp. 219-221 ◽  
Author(s):  
U. Özergin ◽  
G. Sunam ◽  
M. Yeniterzi ◽  
T. Yüksek ◽  
T. Solak ◽  
...  
Keyword(s):  
Aortic Stenosis ◽  
Williams Syndrome ◽  
Supravalvular Aortic Stenosis

scholarly journals A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7.

1993 ◽  
Vol 90 (8) ◽  
pp. 3226-3230 ◽  
Author(s):  
A. K. Ewart ◽  
C. A. Morris ◽  
G. J. Ensing ◽  
J. Loker ◽  
C. Moore ◽  
...  
Keyword(s):  
Aortic Stenosis ◽  
Chromosome 7 ◽  
Supravalvular Aortic Stenosis ◽  
Vascular Disorder

Clinical manifestations of Williams syndrome in children

2021 ◽  
Vol 16 (3) ◽  
pp. 54-61
Author(s):  
A.V. Vitebskaya ◽  
◽  
N.V. Frolkova ◽  
M.D. Shakhnazarova ◽  
◽  
...  
Keyword(s):  
Mental Retardation ◽  
Williams Syndrome ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Cardiovascular Disorder ◽  
Key Words Children ◽  
Chromosome 7 ◽  
Pathological Changes ◽  
Phenotypic Characteristics ◽  
Pathological Conditions

Williams syndrome (WS), also known as Williams–Beuren syndrome, is a rare genetic disorder affecting many organs and caused by hemizygous deletions of the long arm of chromosome 7 (7q11. 23). In this article, we describe typical pathological changes in the cardiovascular, endocrine, urinary, digestive, and nervous systems, as well as phenotypic characteristics and psychological aspects of this disease. We also cover a correlation between clinical manifestations of WS and genes in the remote area. The article contains a summary of the main recommendations for the treatment of individual manifestations, i.e. pathological conditions associated with this syndrome. Key words: children, Williams syndrome, cardiovascular disorder, hypercalcemia, hypothyroidism, growth retardation, mental retardation

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