Genetic abnormalities in bicuspid aortic valve root phenotype: preliminary results.

@article{Girdauskas2017GeneticAI,
  title={Genetic abnormalities in bicuspid aortic valve root phenotype: preliminary results.},
  author={Evaldas Girdauskas and Lisa Geist and Kushtrim Disha and Iliaz Kazakbaev and Tatiana M Sequeira Gross and Stefan Schulz and Martin Ungelenk and Thomas Kuntze and Hermann C Reichenspurner and Ingo Kurth},
  journal={European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery},
  year={2017},
  volume={52 1},
  pages={156-162}
}
OBJECTIVES Genetic defects associated with bicuspid aortopathy have been infrequently analysed. Our goal was to examine the prevalence of rare genetic variants in patients with a bicuspid aortic valve (BAV) with a root phenotype using next-generation sequencing technology. METHODS We investigated a total of 124 patients with BAV with a root dilatation phenotype who underwent aortic valve ± proximal aortic surgery at a single institution (BAV database, n  = 812) during a 20-year period (1995… CONTINUE READING

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