Long QT syndrome

Prenatal screening

Fetal genetic screening may allow determination of the presence of a given mutation, although the phenotypic penetrance of the mutation in utero cannot be determined solely on the basis of the genotype. Fetal genetic screening is not performed in routine clinical practice.

12-lead ECG

Although not universally implemented, in parts of Italy infants and young athletes are screened by ECG for LQTS.[45]Schwartz PJ. Pro: newborn ECG screening to prevent sudden cardiac death. Heart Rhythm. 2006 Nov;3(11):1353-5. http://www.ncbi.nlm.nih.gov/pubmed/17074644?tool=bestpractice.com [46]Schwartz PJ, Stramba-Badiale M, Segantini A, et al. Prolongation of the QT interval and the sudden infant death syndrome. N Engl J Med. 1998 Jun 11;338(24):1709-14. http://www.nejm.org/doi/full/10.1056/NEJM199806113382401#t=article http://www.ncbi.nlm.nih.gov/pubmed/9624190?tool=bestpractice.com

Models using a 12-lead ECG to screen newborns for LQTS have been developed that appear to be cost-effective and successful in improving survival.[47]Quaglini S, Rognoni C, Spazzolini C, et al. Cost-effectiveness of neonatal ECG screening for the long QT syndrome. Eur Heart J. 2006 Aug;27(15):1824-32. https://academic.oup.com/eurheartj/article/27/15/1824/2887219 http://www.ncbi.nlm.nih.gov/pubmed/16840497?tool=bestpractice.com

In the US, there is no screening program of asymptomatic people for LQTS.