Sentences with phrase «qt syndrome»

A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: A community - based approach to understanding the impact.

Her work has led to the identification of genetic mutations for heart disease in companion animals; and development of clinical management recommendations, including for feline cardiomyopathy in Maine coon and ragdoll cats, boxer dog cardiomyopathy and, most recently, long QT syndrome in English springer spaniels.

Intragenic suppression of trafficking - defective KCNH2 channels associated with long QT syndrome.

Researchers at the Howard Hughes Medical Institute at the University of Utah have discovered two genes that cause long QT syndrome, an inherited disorder that causes sudden death in young, otherwise...

The chromosome 7 - linked form of congenital long QT syndrome (LQT2) is caused by mutations in the human ether - a-go-go-related gene (HERG) that encodes the rapidly activating delayed rectifier

Advances in Arrhythmia and Electrophysiology Therapeutic Strategies for Long - QT Syndrome Does the Molecular Substrate Matter?

• Subjects with Long QT Syndrome at Screening.

They focused on a gene linked to more than 50 % of long QT syndrome cases that codes for a protein called KCNQ1, which is part of a potassium channel.

Working with collaborators in Japan, Denmark, and the Netherlands, they gathered medical records for 387 patients from families with long QT syndrome who carried one copy of 17 common mutations in the KCNQ1 gene.

Long QT syndrome is caused by defects in ion channels, proteins that maintain heartbeat by controlling the flow of ions across the membrane of heart cells.

In long QT syndrome, potassium channels (orange and blue) that open too slowly can lead to irregular heart rhythms.

Physicians often detect long QT syndrome with a routine electrocardiogram.

Sometimes the person inherited a disorder called long QT syndrome in which the heart takes too long to relax after a contraction and develops a dangerous irregular rhythm.

Researchers at the University of Rochester Medical Center recently discovered a genetic link between Long QT Syndrome (LQTS), a rare cardiac rhythm disease, and an increased risk for seizures.

(Long QT syndrome is a heart condition that can cause irregular heartbeats, and in some cases, sudden death.)

In that period, other labs were prohibited from offering the test, and at least one person died from undiagnosed Long QT syndrome, the brief says.

This one predisposed her to long QT syndrome, a condition that dramatically increases the risk of sudden cardiac death.

It has been estimated that 5 % to 10 % of infants who die from SIDS have novel mutations in the cardiac sodium or potassium channel genes that result in long QT syndrome as well as in other genes that regulate channel function.44 A recent report described important new molecular and functional evidence that implicates specific SCN5A (sodium channel gene) β subunits in SIDS pathogenesis.47 The identification of polymorphisms in genes pertinent to the embryologic origin of the autonomic nervous system in SIDS cases also lends support to the hypothesis that a genetic predisposition contributes to the etiology of SIDS.

having other family members with a «history of premature death (sudden or otherwise), or significant disability from cardiovascular disease in close relative (s) younger than 50 years old or specific knowledge of the occurrence of certain conditions (eg, hypertrophic cardiomyopathy, dilated cardiomyopathy, long QT syndrome, Marfan syndrome, or clinically important arrhythmias)».

Burt — who had no previous history of heart ailments and was leading the Pac - 10 in three - point shooting percentage -LRB-.538) and assist - to - turnover ratio (3.42) when she was stricken — was initially told she had Long QT syndrome, a rare disorder of the heart's electrical system.

Not exact matches

Modulations of Sodium Channel Long QT and Brugada Syndrome Mutations by a Common Sodium Channel Polymorphism.

Areas of clinical expertise include QT prolongation with psychiatric medications, catatonia and related syndromes, and patients who deceive providers.