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Tricuspid atresia and pulmonary atresia in a child with Rubinstein-Taybi syndrome


1 Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin, Milwaukee, Wisconsin, United States
2 Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin, Milwaukee, Wisconsin; Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, Wisconsin, United States

Correspondence Address:
Rohit S Loomba
Children's Hospital of Wisconsin, 9000 Wisconsin Avenue, Milwaukee, Wisconsin, 53226
United States
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0974-2069.154151

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Year : 2015  |  Volume : 8  |  Issue : 2  |  Page : 157-160

 

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Rubinstein-Taybi syndrome is a well-characterized condition causing distinctive physical characteristics, intellectual disability, and multiple congenital malformations. Cardiac abnormalities are found in a third of individuals with this condition and usually consist of isolated septal defects or patent ductus arteriosus, although more complex congenital lesions have been described. We present the first reported case of tricuspid atresia and pulmonary atresia with hypoplasia of the right ventricle in the setting of Rubenstein-Taybi syndrome.






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1 Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin, Milwaukee, Wisconsin, United States
2 Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin, Milwaukee, Wisconsin; Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, Wisconsin, United States

Correspondence Address:
Rohit S Loomba
Children's Hospital of Wisconsin, 9000 Wisconsin Avenue, Milwaukee, Wisconsin, 53226
United States
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0974-2069.154151

Rights and Permissions

Rubinstein-Taybi syndrome is a well-characterized condition causing distinctive physical characteristics, intellectual disability, and multiple congenital malformations. Cardiac abnormalities are found in a third of individuals with this condition and usually consist of isolated septal defects or patent ductus arteriosus, although more complex congenital lesions have been described. We present the first reported case of tricuspid atresia and pulmonary atresia with hypoplasia of the right ventricle in the setting of Rubenstein-Taybi syndrome.






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