Pre-implantation genetic testing for hereditary pulmonary arterial hypertension: promise and caution.

@article{Hamid2012PreimplantationGT,
  title={Pre-implantation genetic testing for hereditary pulmonary arterial hypertension: promise and caution.},
  author={Rizwan Hamid and James Loyd},
  journal={The European respiratory journal},
  year={2012},
  volume={39 6},
  pages={1292-3}
}
P ulmonary arterial hypertension (PAH) is a progressive, fatal disease and most PAH patients have a poor prognosis despite standard-of-care therapies. Heritable PAH (HPAH) is usually (.80%) due to germline mutations in the bone morphogenetic protein receptor 2 (BMPR2) gene [1– 4]. Thus, BMPR2 mutations constitute the largest known risk for developing PAH… CONTINUE READING