For all of us working in the field of inherited heart conditions, our ultimate aim is the prevention of sudden cardiac death in young people in our communities. We share the passion and drive to this aim with our colleagues Saul et al, who write to advocate infant screening of infants for LQTS. Although Saul et al aimed to write an unbiased review of the subject, they present data that support screening while underrepresenting evidence against it. Their illustrative Figure 1 is arguably misleading, presenting a graph of freedom from any cardiac event in symptomatic individuals with familial LQTS. We know that 87% of deaths from LQTS occur in those who were previously symptomatic. This discussion, however, is not about symptomatic patients with LQTS; it is about the detection of presymptomatic individuals on a community level. Our aim is to present evidence that has led us to oppose the conclusions and suggestions of their article. Most pediatric cardiologists do not wish to see ECG screening in infancy, and we are among them. Saul et al state that there is sufficient evidence to propose ECG screening in infancy for LQTS. We disagree. We disagree with this view for a number of reasons: (1) The effectiveness of such a program has not been evaluated in terms of outcome. (2) The ECG is an unreliable diagnostic tool with unacceptable reproducibility, specificity, and sensitivity. (3) The adverse effects of overdiagnosing or underdiagnosing LQTS in thousands of individuals have not been evaluated. (4) There are no definitive criterion standard by which LQTS can be excluded once the possibility is raised, and in particular genetic testing is not sensitive or specific enough to do so. (5) There is a paucity of normative ECG and genetic data for non-Whites. We propose what we believe is a more attractive alternative: the detection of LQTS in the community through an active multidisciplinary program to detect probands and screen family members, based around a clinical registry. This has already proven to be effective. If adequately resourced, this method will provide a quicker, more reliable, and more societally acceptable method to detect and manage families at risk, such that it might conceivably render population screening redundant.
Keywords: Genetics; Long QT syndrome; Screening; Sudden cardiac death.
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