Electrocardiography in Noonan syndrome PTPN11 gene mutation--phenotype characterization.

  title={Electrocardiography in Noonan syndrome PTPN11 gene mutation--phenotype characterization.},
  author={Ellen A Croonen and Ineke van der Burgt and Livia Kapusta and Jos M. T. Draaisma},
  journal={American journal of medical genetics. Part A},
  volume={146A 3},
Noonan syndrome is a developmental disorder with distinctive facial features, short stature and cardiac abnormalities. In this cross-sectional study, we evaluated characteristic electrocardiographic (ECG) findings and cardiac abnormalities in 84 patients with Noonan syndrome, 56 (67%) of who were positive for a PTPN11 mutation. As reported previously, pulmonary stenosis was the most common cardiac abnormality, followed by atrial septal defect and hypertrophic cardiomyopathy. The ECG showed at… CONTINUE READING