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

Abstract We present a case of a 42-year-old male patient with severe supravalvular aortic stenosis associated with aortic and mitral valve stenosis as well as an anomalous origin of the right coronary ostium caused by deletion in the q11.23 region of the human chromosome 7 in a patient with Williams–Beuren syndrome.

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Williams-Beuren syndrome: Report of two cases with molecular diagnosis

Colombia Medica ◽

10.25100/cm.v42i4.954 ◽

2011 ◽

pp. 523-528

Author(s):

Carolina Vargas ◽

Wilmar Saldarriaga ◽

Harry Mauricio Pachajoa ◽

Carolina Isaza

Keyword(s):

Mental Retardation ◽

In Situ Hybridization ◽

Aortic Stenosis ◽

Candidate Genes ◽

Molecular Diagnosis ◽

Fluorescent In Situ Hybridization ◽

Chromosome 7 ◽

Supravalvular Aortic Stenosis ◽

Syndrome Report

Williams-Beuren syndrome has an estimated incidence of one case in every 10,000 births. It is secondary to microdeletion of a fragment in the long arm of chromosome 7, which contains several candidate genes for the characteristic phenotype of typical facies, supravalvular aortic stenosis, and variable mental retardation with a friendly personality. This article focuses on the report of two cases, with classic but varied phenotypic findings, of this syndrome for which molecular diagnosis with fluorescent in situ hybridization was available. Additionally, we suggest a protocol for complementary studies needed to characterize each patient.

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

PEDIATRIA Journal named after G N SPERANSKY ◽

10.24110/0031-403x-2021-100-4-141-147 ◽

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.

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Modeling Supravalvular Aortic Stenosis Syndrome With Human Induced Pluripotent Stem Cells

Circulation ◽

10.1161/circulationaha.112.116996 ◽

2012 ◽

Vol 126 (14) ◽

pp. 1695-1704 ◽

Cited By ~ 70

Author(s):

Xin Ge ◽

Yongming Ren ◽

Oscar Bartulos ◽

Min Young Lee ◽

Zhichao Yue ◽

...

Keyword(s):

Stem Cells ◽

Aortic Stenosis ◽

Induced Pluripotent Stem Cells ◽

Pluripotent Stem Cells ◽

Supravalvular Aortic Stenosis ◽

Induced Pluripotent

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Familial Supravalvular Aortic Stenosis

CHEST Journal ◽

10.1378/chest.70.4.494 ◽

1976 ◽

Vol 70 (4) ◽

pp. 494-500 ◽

Cited By ~ 10

Author(s):

Lewis W. Johnson ◽

Ronald A. Fishman ◽

Bernard Schneider ◽

Frederick B. Parker ◽

George Husson ◽

...

Keyword(s):

Aortic Stenosis ◽

Supravalvular Aortic Stenosis

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Supravalvular Aortic Stenosis and the Risk of Premature Death Among Patients With Homozygous Familial Hypercholesterolemia

The American Journal of Cardiology ◽

10.1016/j.amjcard.2020.12.080 ◽

2021 ◽

Author(s):

Ruiying Zhang ◽

Jinjie Xie ◽

Jie Zhou ◽

Liyuan Xu ◽

Yufan Pan ◽

...

Keyword(s):

Aortic Stenosis ◽

Familial Hypercholesterolemia ◽

Premature Death ◽

Supravalvular Aortic Stenosis ◽

Homozygous Familial Hypercholesterolemia

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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 ◽

10.1177/02676591211046876 ◽

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.

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