Why Do More Women Than Men Have Long-QT Syndrome?

The female preponderance might have more to do with unbalanced transmission of the genetic mutations that cause LQTS than with clinical differences between the sexes.

People with congenital long-QT syndrome (LQTS) are at increased risk for torsades de pointes and sudden cardiac death. The most common forms of LQTS (types 1 and 2) are characterized by autosomal dominant genetic transmission. To explore potential genetic underpinnings of the observed female predominance in LQTS, researchers at five European centers retrospectively studied allele distribution in 753 nuclear families (484 with LQTS1 and 269 with LQTS2).

Prolonged QT intervals were, as expected, present in all 234 clinically diagnosed probands; most had experienced syncope, aborted cardiac arrests, or both. As expected, most clinically diagnosed probands (68%) were female. Unexpectedly, among 1534 descendants of these probands, a majority (870…

Reviewing Author

Mark S. Link, MD