The congenital long QT syndrome (LQTS) is a monogenic disorder, not as rare as it was originally estimated to be, mainly caused by mutations in genes encoding for ion channels. Molecular screening in this disease is part of the diagnostic process and this has already been recognized by ...
In this article, author Dr. Kathy Glatter discusses the use of genetic testing for finding cardiac syndromes such as long QT syndrome. Case History A 34-year-old female with long QT syndrome (LQTS) was referred to our institution for evaluation. Starting
The long QT syndrome: Therapeutic implications of a genetic diagnosis The congenital long QT syndrome (LQTS) is a hereditary disorder characterized by a prolonged QT interval and a polymorphic ventricular tachycardia, known a... S Wataru - 《Cardiovascular Research》 被引量: 161发表: 2005年 [Hype...
当保罗只有5个月大时,他的母亲在睡眠中因突发心跳停止而死亡,而保罗20岁的舅舅也因为突发心跳停止而死亡。经遗传学家诊断,有七位保罗母亲的家族成员具有第七号染色体上的变异基因,这种基因会导致长QT波症候群(LongQTSyndrome)。几年以后,保罗的父亲失业了,也同时失去了他与保罗的团体医疗保险。经过保罗父亲...
Long QT syndrome ( LQTS ) is a contributor to unexplained deaths in infants ( SIDS ), children, teenagers and young adults. A gene test result may allow for individual tailored treatment, but also pose a burden of knowing one's carrier status, with no treatment recommendation. Genetic risk...
The main symptoms and clinical types of long QT syndrome are described. Molecular genetic diagnostics and updated approaches to the management of patients with long QT syndrome are presented.doi:10.20996/1819-6446-2012-8-5-694-698Chernova, A. A....
QT syndrome. Genetic tests were inconclusive, as well, but showed the patient had a variant of uncertain significance on the KCNH2 gene. This was worrisome because several other mutations on this gene are known to cause long QT syndrome type 2, one of the most common types of the disorder...
Aetna considers genetic testing for long QT syndrome experimental, investigational, or unproven for all other indications because its effectiveness for indications other than the ones listed above has not been established. Malignant hyperthermia susceptibility: Aetna considers genetic testing for malignant hyp...
We determinated the cost per positive genotyping in 234 index cases with diagnosis of hypertrophic cardiomyopathy (HCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), long-QT syndrome (LQTS), or Brugada syndrome (BS). The genetic tests of the most prevalent genes and the estimation of ...
Twelve forms of congenital long QT syndrome have been so far identified, and genotype-phenotype correlations have been investigated especially in the 3 major genotypes—LQT1, LQT2, and LQT3. Abnormal T waves are reported in the LQT1, LQT2, and LQT3, and the differences in the time course...