Generalized arterial fibromuscular dysplasia and myocardial infarction in familial supravalvular aortic stenosis syndrome

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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Natural history of supravalvular aortic stenosis and pulmonary artery stenosis

Journal of the American College of Cardiology ◽

10.1016/0735-1097(90)92837-r ◽

1990 ◽

Vol 15 (7) ◽

pp. 1625-1630 ◽

Cited By ~ 87

Author(s):

Christopher Wren ◽

Paul Oslizlok ◽

Catherine Bull

Keyword(s):

Natural History ◽

Aortic Stenosis ◽

Pulmonary Artery ◽

Artery Stenosis ◽

Supravalvular Aortic Stenosis ◽

Pulmonary Artery Stenosis ◽

History Of

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Acute Myocardial Infarction in an Elderly Patient With Severe Aortic Stenosis and Angiographically Normal Coronary Arteries

International Journal of Gerontology ◽

10.1016/s1873-9598(10)70041-7 ◽

2010 ◽

Vol 4 (3) ◽

pp. 157-160 ◽

Cited By ~ 1

Author(s):

Chao-Feng Lin ◽

Ko-Ching Chu

Keyword(s):

Myocardial Infarction ◽

Acute Myocardial Infarction ◽

Elderly Patient ◽

Aortic Stenosis ◽

Coronary Arteries ◽

Severe Aortic Stenosis ◽

Normal Coronary Arteries

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Homozygous Familial Hypercholesterolaemia with Valvular Aortic Stenosis and Significant Coronary Artery Disease: A Case Report

Cardiovascular Journal ◽

10.3329/cardio.v6i2.18365 ◽

2014 ◽

Vol 6 (2) ◽

pp. 180-183

Author(s):

B Dutta ◽

AKMM Islam ◽

M Ullah ◽

A Zaman ◽

KK Karmakar ◽

...

Keyword(s):

Myocardial Infarction ◽

Coronary Artery Disease ◽

Aortic Stenosis ◽

Familial Hypercholesterolaemia ◽

Genetic Disorder ◽

Significant Coronary Artery Disease ◽

Rare Presentation ◽

Valvular Aortic Stenosis ◽

Homozygous Familial Hypercholesterolaemia ◽

Artery Disease

Homozygous Familial Hypercholesterolaemia is a genetic disorder which usually presents with early cardiovascular disease ranging from premature ischaemic disease, including myocardial infarction to aortic root stenosis. A 21 year old Bangladeshi male presented with exertional chest pain and breathlessness. He was diagnosed as a case of Homozygous Familial Hypercholesterolaemia. His angina symptoms were due to underlying valvular aortic stenosis which is a rare presentation of Homozygous Familial Hypercholesterolaemia. DOI: http://dx.doi.org/10.3329/cardio.v6i2.18365 Cardiovasc. j. 2014; 6(2): 180-183

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