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Year : 2014  |  Volume : 11  |  Issue : 2  |  Page : 136-138

Infantile presentation and rapid progression of coarctation of aorta in a case of Williams syndrome

1 Department of Cardiology, Radha Gobinda Kar Medical College, Kolkata, India
2 Department of Pediatrics, Sagar Dutta Medical College, Kolkata,West Bengal, India

Correspondence Address:
Monika Bhandari
Department of Cardiology, Radha Gobinda Kar Medical College, Kolkata - 700 004, West Bengal
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0189-7969.142121

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Williams syndrome is a multisystem disorder caused by the deletion of multiple genes on chromosome 7. Many patients are identified through presence of dysmorphic features and associated cardiac abnormalities. Cardiovascular abnormalities in Williams syndrome is characterized by presence of supravalvular aortic stenosis which is most common followed by pulmonary artery stenosis, mitral valve prolapse, aortic hypoplasia, coarctation of aorta, and septal defects. Usually, these obstructive lesions are mild and do not present in infancy and progress slowly. If severe in infantile age-group, they often require surgery. We are reporting a case of Williams syndrome who presented with heart failure demonstrating supravalvular aortic stenosis (a common feature of Williams syndrome) and rapidly progressive coarctation of aorta with refractory symptoms.

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