In 1957 Jervell and Lange-Nielsen described a Norwegian family, with 4 sibs who all had deafmutism, an extraordinarily long Q-T interval, and fainting attacks. Levine and Woodworth described a new case in 1958. Fraser and colleagues (Fraser, Froggatt, and James, 1964a; Fraser, Froggatt, and Murphy, 1964b; Friedmann, Fraser, and Froggatt, 1966) carried out a survey in the U.K. of almost 1500 dea...

Long-QT syndrome (LQTS) is an inherited cardiac disease that is characterised by prolongation of the QT interval on the electrocardiogram and is associated with syncopal episodes, dangerous ventricular arrhythmias of the torsades de pointes type, and a high risk of sudden death on a substrate of a structurally normal heart. Today we know that LQTS is an inherited autosomal dominant arrhythmogen...

OBJECTIVE Intense emotions are known triggers of sudden cardiac death. However, the effect of typical daily emotion on repolarization has not been examined. We examined whether QT interval changes as a function of typical daily emotion in patients at risk for cardiac events in the context of emotion. METHODS We studied 161 patients (n = 114 females; mean age, 35 years) with the congenital for...

BACKGROUND Congenital long QT syndrome (LQTS) is characterized by QT prolongation. However, the QT interval itself is insufficient for diagnosis, unless the corrected QT interval is repeatedly ≥500 ms without an acquired explanation. Further, the majority of LQTS patients have a corrected QT interval below this threshold, and a significant minority has normal resting corrected QT interval value...

For the balance equations of charge transport in semiconductors based on the maximum entropy principle (see Anile and Romano (1999) and Romano (2000)), we derive and study the Rankine-Hugoniot jump conditions.

allgrove syndrome also known as triple-a syndrome is an autosomal recessive disorder characterized by alacremia, achalasia and acth-resistant adrenal insufficiency. although this syndrome is rare, herein we report four cases with different clinical manifestations. they were referred to the gastrointestinal ward during a one year period with complaints of vomiting and dysphagia. the diagnosis of...

OBJECTIVES This study investigated the ability of QT duration, QT dispersion (QTD) and clinical diagnostic criteria to correctly identify genetically documented LQT1 type long QT syndrome (LQTS) patients, and to separate symptomatic and asymptomatic LQT1 patients. BACKGROUND Ventricular repolarization has played an essential role both in diagnosis and risk assessment of LQTS. Today, molecular...

The long-QT syndrome (LQTS) type III (LQT3) is the third most common variant of the congenital LQTS. LQT3 differs from the more common (LQT1 and LQT2) variants of LQTS by important clinical and electrophysiological characteristics: (1) Patients with LQT3 develop arrhythmias less often, but these are more likely to be lethal when they ultimately occur. (2) In contrast to LQT1 and LQT2 patients, ...

The discovery of genetic defects underlying long-QT syndrome (LQTS) has allowed to identify important genotype-phenotype correlations that are now being used for risk stratification. The next challenge is to exploit the new information on the pathophysiology of the disease derived from molecular genetics to devise more effective therapies. The successful response of LQT1 patients to -blockers, ...

Background Due to its availability, atenolol is the primary beta-blocker used in Australia for children with long QT syndrome. There is limited data on long-term follow-up of its use. Methods A single-tertiary-center, retrospective, observational study investigating all children and adolescents who had genetically proven long QT syndrome type 1 (LQT1) and type 2 (LQT2) was conducted. Their pr...