Tetralogy of Fallot(TOF) is the most common form of cyanotic congenital cardiac disease in humans. With recent advances in corrective surgery early lethality from TOF is rare but long-term sequelae, including arrhythmia, ventricular dysfunction and often life-long disability. Now attention has shifted from immediate outcomes to understanding causation. This review summarizes current knowledge regarding the embryonic and molecular mechanisms involved in cardiac development, with particular attention paid to the role of transcription factors and to their potential usefulness in order to clarify the genetic basis of TOF.
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