Key result
Takenouchi-Kosaki syndrome linked to complex congenital heart defects including double-outlet right ventricle.
Why the study?
Takenouchi–Kosaki syndrome is a multisystem autosomal dominant disorder with documented but limited cardiovascular manifestations including transposition of the great arteries and septal defects.
Case Report (n=1)
This case report expands the known cardiovascular manifestations of Takenouchi-Kosaki syndrome to include double-outlet right ventricle.
May prompt cardiac screening in Takenouchi-Kosaki syndrome; extends CDC42 phenotypic spectrum but remains hypothesis-generating.
Takenouchi–Kosaki syndrome (TKS; OMIM #616737) is an autosomal dominant disorder first described in 2015, characterized by multisystem involvement. Affected individuals may exhibit developmental delay, macrothrombocytopenia, lymphedema, camptodactyly, and unique facial features [1,2]. TKS is linked to heterozygous gain-of-function variants in the cell division control protein 42 homolog (CDC42) gene [2]. Cardiovascular issues, including transposition of the great arteries, septal defects, patent ductus arteriosus (PDA), and pulmonary stenosis (PS), have also been documented [3].
No takes yet. Share an insight, caveat, or question.
Lai et al. (2024) conducted a case report in Takenouchi-Kosaki syndrome (TKS) (n=1). Takenouchi-Kosaki syndrome, linked to CDC42 gene variants, can present with complex cardiovascular issues including double-outlet right ventricle.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: