Extracardiac features predicting 22q11.2 deletion syndrome in adult congenital heart disease.

@article{Fung2008ExtracardiacFP,
  title={Extracardiac features predicting 22q11.2 deletion syndrome in adult congenital heart disease.},
  author={Wai Lun Alan Fung and E. C. Chow and Gary D. Webb and Michael A. Gatzoulis and Anne S. Bassett},
  journal={International journal of cardiology},
  year={2008},
  volume={131 1},
  pages={51-8}
}
BACKGROUND AND OBJECTIVES 22q11.2 Deletion Syndrome (22q11.2DS) is an important genetic syndrome to cardiologists yet remains under-recognized in adults. There is no evidence-based guideline for genetic testing referrals. Feasibility issues in many jurisdictions preclude testing for 22q11.2 deletions in every congenital cardiac patient. We aimed to determine an optimal combination of extracardiac features that could be clinically helpful in identifying adults with tetralogy of Fallot (TOF) and… CONTINUE READING

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