Cardiology Medical News about Long QT Syndrome

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Genetic Testing for Long-QT Syndrome. Distinguishing Pathogenic Mutations From Benign Variants
Circulation, 10/23/09

Kapa S et al. – Distinguishing pathogenic mutations from rare variants is of critical importance in the interpretation of genetic testing in LQTS. Mutation type, mutation location, and ethnic–specific background rates are critical factors in predicting the pathogenicity of novel mutations. Novel mutations in low–estimated predictive value regions such as the interdomain linker of SCN5A should be viewed as variants of uncertain significance and prompt further investigation to clarify the likelihood of disease causation. However, mutations in regions such as the transmembrane, linker, and pore of KCNQ1 and KCNH2 may be defined confidently as high–probability LQTS–causing mutations. These findings will have implications for other genetic disorders involving mutational analysis.

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Fetal ventricular tachycardia secondary to long QT syndrome treated with maternal intravenous magnesium
Ultrasound in Obstetrics and Gynecology, 10/23/09 Relevance Score: 80%

Prevalence of the Congenital Long-QT Syndrome
Circulation, 10/26/09 Relevance Score: 79%

Inherited Cardiac Diseases Caused by Mutations in the Nav1.5 Sodium Channel
Journal of Cardiovascular Electrophysiology, 10/23/09 Relevance Score: 79%

NOS1AP Is a Genetic Modifier of the Long-QT Syndrome
Circulation, 10/16/09 Relevance Score: 79%

Assessment of Microvolt T-Wave Alternans in High-Risk Patients with the Congenital Long-QT Syndrome
Annals of Noninvasive Electrocardiology, 10/08/09 Relevance Score: 79%