Coffin-Siris syndrome in a twelve year old girl

Karunatilaka, D.H.; Amaratunga, G.W.D.S.; Perera, K.D.N.I.

doi:10.4038/sljch.v29i2.606

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2014

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“…Congenital heart diseases associated with Coffin-Siris syndrome (CCS) are seen in an average of 30% of reported patients. [ 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 ] Cardiac defects are extremely heterogeneous in this syndrome. None of the defect is sine-qua-non for the syndrome.…”

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confidence: 99%

Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature

et al. 2014

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We report a case of type-A Coffin-Siris syndrome (CSS) with a unique constellation of congenital heart defects. A 17-year-old Indian boy was referred to our hospital for central cyanosis with features of right heart failure. The cardiac abnormalities included biventricular outflow tract obstruction, small atrial septal defect (ASD), subaortic ventricular septal defect, drainage of left superior venacava to left atrial appendage, and aortic arch anomaly. Patient underwent successful right ventricular infundibular resection, subaortic membrane resection, closure of atrial and ventricular septal defect, rerouting left superior vena cava to left pulmonary artery and aortic valve replacement.

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