Letter by Kaufman Regarding Article, “Closer Look at Genetic Testing in Long-QT Syndrome: Will DNA Diagnostics Ever Be Enough?”

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HomeCirculationVol. 121, No. 23Letter by Kaufman Regarding Article, “Closer Look at Genetic Testing in Long-QT Syndrome: Will DNA Diagnostics Ever Be Enough?” Free AccessLetterPDF/EPUBAboutView PDFView EPUBSections ToolsAdd to favoritesDownload citationsTrack citationsPermissions ShareShare onFacebookTwitterLinked InMendeleyReddit Jump toFree AccessLetterPDF/EPUBLetter by Kaufman Regarding Article, “Closer Look at Genetic Testing in Long-QT Syndrome: Will DNA Diagnostics Ever Be Enough?” Elizabeth S. Kaufman, MD Elizabeth S. KaufmanElizabeth S. Kaufman Heart and Vascular Research Center, MetroHealth Campus of Case Western Reserve University, Cleveland, Ohio Search for more papers by this author Originally published15 Jun 2010https://doi.org/10.1161/CIRCULATIONAHA.109.921593Circulation. 2010;121:e439To the Editor:In his editorial, “Closer Look at Genetic Testing in Long-QT Syndrome: Will DNA Diagnostics Ever Be Enough?,”1 Dr MacRae categorizes genotyping as having no additional benefit in patients who meet clinical criteria for long-QT syndrome. I would like to point out that if the family mutation is unknown, genotyping such patients can be very useful. Knowledge of the long-QT syndrome subtype can help the clinician stratify risk and identify the therapy most likely to be protective. The different genetic subtypes of long-QT syndrome (ie, LQT1, LQT2, and LQT3) have different clinical outcomes and respond differently to various treatments.2,3 The informed clinician can judge when β-blocker medication is adequate and when an implantable cardioverter-defibrillator is required to prevent sudden cardiac death.A second point that deserves emphasis is that genetic testing in borderline phenotype individuals with a known family mutation can be of great value. A negative test identifies those who do not require further testing and treatment, whereas a positive test leads to appropriate follow-up of vulnerable individuals.DisclosuresNone. References 1 MacRae CA. Closer look at genetic testing in long-QT syndrome: will DNA diagnostics ever be enough? Circulation. 2009; 120: 1745–1748.LinkGoogle Scholar2 Priori SG, Schwartz PJ, Napolitano C, Bloise R, Ronchetti E, Grillo M, Vicentini A, Spazzolini C, Nastoli J, Bottelli G, Folli R, Cappelletti D. Risk stratification in the long-QT syndrome. N Engl J Med. 2003; 348: 1866–1874.CrossrefMedlineGoogle Scholar3 Priori SG, Napolitano C, Schwartz PJ, Grillo M, Bloise R, Ronchetti E, Moncalvo C, Tulipani C, Veia A, Bottelli G, Nastoli J. Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers. JAMA. 2004; 292: 1341–1344.CrossrefMedlineGoogle Scholar Previous Back to top Next FiguresReferencesRelatedDetails June 15, 2010Vol 121, Issue 23 Advertisement Article InformationMetrics https://doi.org/10.1161/CIRCULATIONAHA.109.921593PMID: 20547937 Originally publishedJune 15, 2010 PDF download Advertisement SubjectsGenetics