Makoto Nakazawa

TL;DR: In this article, the authors examined surgical, electrocardiographic, and late haemodynamic data, and their relation to clinical arrhythmia and sudden death occurring over 10 years, in a multicentre cohort of patients with repaired tetralogy.

TL;DR: The results suggest that the TBX1 mutation is responsible for five major phenotypes in del22q11.2 syndrome, and conclude thatTBX1 is a major genetic determinant of the del22Q11.

TL;DR: The results indicated the validity of the PA-index in predicting the postoperative prognosis of the various entities and may also serve a useful guide in comparing surgical results from different institutions with patients having anomalies of varying severity.

TL;DR: This work pinpoints essential sites of NKX2.5 in the development of the conduction system and observed some remarkable phenotypes, i.e., dextrocardia with E359Xfs and cribriform type ASD with R190C, both of which are expected to be clues for further investigations.

TL;DR: It is reported that mice lacking the Hesr1 gene are viable and fertile, whereas knockout mouse of both hesr1 and hesr2 is embryonic lethal at 11.5 days postcoitum and recapitulates most of the known cardiovascular phenotypes of disrupted Notch pathway mutants including defects in arterial-venous specification, septation and cushion formation.