CORRESPONDENCE: LETTERS TO THE EDITOR
Reply
Luc M. Beauchesne, MD, FRCPC*,
Carole A. Warnes, MD, MRCP, FACC,
Heidi M. Connolly, MD, FACC,
Naser M. Ammash, MD, FACC,
Martha Grogan, MD, FACC,
Syed M. Jalal, PhD and
Virginia V. Michels, MD
* Division of Cardiology, University of Ottawa Heart Institute, 40 Ruskin Street, Ottawa, Ontario, Canada K1Y 4W7 (Email: lbeauchesne{at}ottawaheart.ca).
We appreciate the interest of Dr. Freeman and her colleagues in our recent publication on 22q11.2 microdeletion in adults (1). The data they present are in keeping with the literature that indicates certain conotruncal anomalies, such as pulmonary atresia/VSD, are frequently associated with 22q11.2 microdeletion. Although the patients who were positive for 22q11.2 microdeletion in their center had "classic" features of the syndrome (two-thirds had dysmorphic features and two-thirds significant developmental delay), in our prospective cohort a significant proportion did not have these findings. We would also like to remind the readership that at the present time our position on screening adults is that it should be individualized as opposed to mandatory. We believe screening should be considered in patients with "high-risk" cardiac lesions, or if there is the presence of specific clinical features that are associated with 22q11.2 microdeletion as listed in our report (1). The pros and cons of screening should be discussed with each patient so that a decision, based on informed consent, can be made (2).
 |
References
|
|---|
1. Beauchesne LM, Warnes CA, Connolly HM, Ammash NM, Grogan M, Michels VV. Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal abnormalities J Am Coll Cardiol 2005;45:595-598.[Abstract/Free Full Text]
2. Bristow JD, Bernstein HS. Counseling families with chromosome 22q11 deletionsthe catch in CATCH-22. J Am Coll Cardiol 1998;32:499-501.[Free Full Text]
|
Top
References