European Heart Journal Advance Access originally published online on May 5, 2007
European Heart Journal 2007 28(11):1399; doi:10.1093/eurheartj/ehm118
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Diagnostic criteria for congenital long QT syndrome in the era of molecular genetics: do we need a scoring system?
Department of Clinical Genetics
Academic Medical Center
Meibergdreef 9
Amsterdam 1105 AZ
The Netherlands
Department of Clinical and Experimental Cardiology
Academic Medical Center
Meibergdreef 9
Amsterdam 1105 AZ
The Netherlands
Department of Clinical and Experimental Cardiology
Academic Medical Center
Meibergdreef 9
Amsterdam 1105 AZ
The Netherlands
Tel: +31 20 5663265, Fax: +31 20 6975458, E-mail address: h.l.tan{at}amc.uva.nl
We have read with great satisfaction that Rossenbacker and Priori,1 in their editorial to our article (‘Diagnostic Criteria for congenital long QT syndrome in the era of molecular genetics: do we need a scoring system?’),2 have provided supportive evidence for our conclusion that presently used diagnostic criteria for inherited long QT syndrome (LQTS) have insufficient diagnostic power. Unfortunately, we must rectify an interpretation of our work by Rossenbacker and Priori, which is clearly erroneous. Rossenbacker and Priori state that we propose in our article that when molecular diagnosis is available in a family, ‘it would be worthwhile to use clinical criteria to select individuals suitable for molecular screening’. These authors provide reasons why such a strategy should not be followed. Instead, genetic testing should be conducted in all relatives, regardless of phenotypic characteristics. We must emphasize here that we fully agree with this latter strategy. Accordingly, we have discussed this issue at length in our manuscript, e.g. in Abstract and Discussion. Our Discussion states: ‘... finding a QTc duration in the upper range of normal in a relative of a LQTS proband should not provide the false reassurance that this induvidual will not carry LQTS. Previous studies also indicted reduced penetrance in LQTS (i.e. normal QTc values in mutation carriers). These observations clearly impart added importance to molecular genetic investigation, as DNA testing should be ordered in relatives of an LQTS proband, even if their QTc lie within the normal range’. The last sentence of our Abstract reads: ‘In genotyped families, genetic testing is the preferred diagnostic test’.
References
- Rossenbacker T, Priori SG. Clinical diagnosis of long QT syndrome: back to the caliper. Eur Heart J (2007) 28:527–528.
[Free Full Text] - Hofman N, Wilde AAM, Kääb S, van Langen IM, Tanck MWT, Mannens MMAM, Hinterseer M, Beckmann B, Tan HL. Diagnostic criteria for congenital long QT syndrome in the era of molecular genetics: do we need a scoring system? Eur Heart J (2007) 28:575–580.
[Abstract/Free Full Text]
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