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It is unusual for an unusual disease to generate and
attract, all of a sudden, a great deal of attention among clinicians and scientists with a
multiplicity of areas of expertise, ranging from clinical cardiologists to molecular
biologists, from basic electrophysiologists to genetists, from pediatricians to experts in
channel cloning and in transgenic animals. Nonetheless, this is exactly what has been
happening during the last couple of years for the long QT syndrome (LQTS).
Many are the reasons why LQTS has become of widespread interest, the most recent and
important of which is that, due to the identification of some of the responsible genes and
to the impressive correlation between specific mutations and critical alterations in the
ionic control of ventricular repolarization, this syndrome has become a unique model which
allows a correlation between genotype and phenotype, thus providing a direct bridge
between molecular biology and clinical cardiology.
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