ArticleAnnals of pediatric cardiology2014
Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature.
Article in Annals of pediatric cardiology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Harnessing human genetics and stem cells for precision cardiovascular medicine.Cell genomics · 2024Review
- KDM8 epigenetically controls cardiac metabolism to prevent initiation of dilated cardiomyopathy.Nature cardiovascular research · 2023Article
- Kalirin-RAC controls nucleokinetic migration in ADRN-type neuroblastoma.Life science alliance · 2021Article
- Persistent Left Superior Vena Cava with Absent Right Superior Vena Cava and Discrete Subaortic Stenosis Diagnosed in a Patient with Sick Sinus Syndrome: A Case Report and Brief Review of the Literature.Diagnostics (Basel, Switzerland) · 2020Article
- Genetic Basis of Human Congenital Heart Disease.Cold Spring Harbor perspectives in biology · 2020Article
- Article
- A case of Coffin-Siris syndrome with severe congenital heart disease and a novelCold Spring Harbor molecular case studies · 2019Article
- The SWI/SNF BAF-A complex is essential for neural crest development.Developmental biology · 2016Article
- Intellectual Disability: When the Hypertrichosis Is a Clue.Journal of pediatric genetics · 2015Review
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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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