Mutations in genes related to myocyte contraction and ventricular septum development in non-syndromic tetralogy of Fallot.

Drayton C Harvey,Riya Verma, Brandon Sedaghat, Brooke E Hjelm,Sarah U Morton,Jon G Seidman,S Ram Kumar

Frontiers in cardiovascular medicine（2023）

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摘要

Innate molecular defects in cardiac progenitor cells and genes related to their viability and contractile function appear central to non-syndromic TOF pathogenesis. Future research utilizing our results is likely to have significant implications in stratification of TOF patients and delivery of personalized clinical care.

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tetralogy of fallot, exome sequencing, congenital heart defect, de novo variants, conotruncal defects

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