Genetic Modifiers for the Long-QT Syndrome

Genetic Modifiers for the Long-QT Syndrome

The long-QT syndrome (LQTS), probably the best-known genetic disorder causing life-threatening arrhythmias, has become a useful paradigm to study sudden cardiac death in the young. An intriguing feature of LQTS is its incomplete penetrance and variable expressivity which are commonly observed even among members of the same family, all carriers of the same mutation. There is a consensus that thi...

Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2.

BACKGROUND Considerable interest exists in the identification of genetic modifiers of disease severity in the long-QT syndrome (LQTS) as their identification may contribute to refinement of risk stratification. METHODS AND RESULTS We searched for single-nucleotide polymorphisms (SNPs) that modulate the corrected QT (QTc)-interval and the occurrence of cardiac events in 639 patients harboring ...

Genetic testing for long QT syndrome.

Genetic Testing for Long QT Syndrome

©2008 Blue Cross and Blue Shield Association. Reproduction without prior authorization is prohibited. 1 NOTICE OF PURPOSE: TEC Assessments are scientific opinions, provided solely for informational purposes. TEC Assessments should not be construed to suggest that the Blue Cross Blue Shield Association, Kaiser Permanente Medical Care Program or the TEC Program recommends, advocates, requires, en...

Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity.

Congenital long QT syndrome (LQTS) is an inherited channelopathy associated with life-threatening arrhythmias. LQTS type 2 (LQT2) is caused by mutations in KCNH2, which encodes the potassium channel hERG. We hypothesized that modifier genes are partly responsible for the variable phenotype severity observed in some LQT2 families. Here, we identified contributors to variable expressivity in an L...