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Elizabeth S. Kaufman, MD

JAMA. 2005;294:3027-3028.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

Within the past decade, investigators have uncovered the genetic basis for multiple long QT syndromes (LQTSs). These include LQT1, in which mutations in the gene KCNQ1 lead to abnormal I_Ks, a slow delayed-rectifier potassium current; LQT2, in which mutations in the gene KCNH2 lead to abnormal I_Kr, a rapid delayed-rectifier potassium current; and LQT3, in which mutations in the gene SCN5A lead to abnormal I_Na, a sodium channel current.^1-2 After genetic testing was made available, it became clear that clinical evaluation based on the resting electrocardiogram was inadequate to detect many cases of LQTS.³ In fact, there is a considerable overlap between QT intervals of unaffected individuals and those with LQTS.⁴ Thus, in many instances, genetic testing adds important information beyond clinical evaluation in determining which patients are at risk both of personal cardiac events and of transmitting LQTS to their offspring.

Furthermore, . . . [Full Text of this Article]

Author Affiliations: MetroHealth Campus of Case Western Reserve University, Cleveland, Ohio.

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