Non-invasive testing of acquired long QT syndrome Evidence for multiple arrhythmogenic substrates

Chevalier, Philippe; Rodríguez, C.; Bontemps, Laurence; Miquel, Maryvonne; Kirkorian, Gilbert; Rousson, Robert; Potet, F; Schott, Jean‐Jacques; Baró, Isabelle; Touboul, P

doi:10.1016/s0008-6363(01)00263-2

Cited by 53 publications

(23 citation statements)

References 37 publications

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“…Studies that have investigated the frequency of genetic polymorphisms and mutations especially in LQT genes show similar low fre- Fig. 3 a-b Original current recordings of a KCNQ1 wt and KCNQ1 H105L as well as of b KCNQ1 wt /minK and KCNQ1 H105L /minK expressed in oocytes from X. laevis Shown are mean values±standard deviation quencies (5-12%) of 'forme fruste' mutations or functional polymorphisms in the studied population [33][34][35][36][37]. The significance of the identified polymorphisms, as well as the non-coding and intronic variations, is yet unknown and will need further clarification, e.g.…”

Section: Discussionmentioning

confidence: 99%

Sudden infant death syndrome and long QT syndrome: an epidemiological and genetic study

Wedekind

Bajanowski²,

Friederich

et al. 2005

Int J Legal Med

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Sudden infant death syndrome (SIDS) is a frequent cause of death among infants. The etiology of SIDS is unknown and several theories, including fatal ventricular arrhythmias, have been suggested. We performed an epidemiological and genetic investigation of SIDS victims to estimate the presence of inherited long QT syndrome (LQTS) as a contributor for SIDS. Forty-one consecutively collected and unrelated SIDS cases were characterized by clinical and epidemiological criteria. We performed a comprehensive gene mutation screening with single-strand conformation polymorphism analysis and sequencing techniques of the most relevant LQTS genes to assess mutation frequencies. In vitro characterization of identified mutants was subsequently performed by heterologous expression experiments in Chinese hamster ovary cells and in Xenopus laevis oocytes. A positive family history for LQTS was suspected by mild prolonged Q-T interval in family members in 2 of the 41 SIDS cases (5%). In neither case, a family history of sudden cardiac death was present nor a mutation could be identified after thorough investigation. In another SIDS case, a heterozygous missense mutation (H105L) was identified in the N-terminal region of the KCNQ1 (LQTS 1) gene. Despite absence of this mutation in the general population and a high conservational degree of the residue H105 during evolution, electrophysiological investigations failed to show a significant difference between wild-type and KCNQ1(H105L)/minK-mediated I(Ks) currents. Our data suggest that a molecular diagnosis of SIDS related to LQTS genes is rare and that, even when an ion channel mutation is identified, this should be regarded with caution unless a pathophysiological relationship between SIDS and the electrophysiological characterization of the mutated ion channel has been demonstrated.

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Section: Discussionmentioning

confidence: 99%

Sudden infant death syndrome and long QT syndrome: an epidemiological and genetic study

Wedekind

Bajanowski²,

Friederich

et al. 2005

Int J Legal Med

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“…However, patients with chronic renal disease have elongated a QT interval, which was further prolonged by dialysis therapy [7]. However, it has recently been suggested that acquired Long QT syndrome is linked to a silent mutation in the gene that causes congenital long QT syndrome [8]. Long QT syndrome can also be divided into adrenergic- and pause-dependent types.…”

Section: Discussionmentioning

confidence: 99%

QT Prolongation Complicated with Torsades de Pointes in Prosthetic Mitral Valve Endocarditis: A Case Report

Tounsi

Abid

Akrout

et al. 2012

Case Reports in Medicine

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We present the case of a 49-year-old male patient with prosthetic mitral valve endocarditis associated with QT prolongation and torsades de pointes. He was asymptomatic until the end of January 2012, when he was admitted to our hospital emergency unit because of syncope, fever, and suspicion of endocarditis. Cardiologic evaluation was requested and the transthoracic (TTE) and transesophageal (TEE) echocardiograms revealed vegetations on the prosthetic mitral valve. All cultures were positive for methicillin-sensitive Staphylococcus aureus. The corrected QT (QTc) interval was markedly prolonged upon admission (QTc 540 ms). He experienced torsades de pointes (TdP) several times and he was recovered after bystander cardiopulmonary resuscitation. The clinical course and the long QTc interval with deep inverted T wave were completely normalized 4 weeks after. He continued on triple antibiotic therapy for 45 days with a good revolution. The clinical features and the possible mechanisms of QT prolongation (inflammation, infection) of this patient are discussed.

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“…Several descriptors or indicators can be computed from an ECG to characterize the cardiac health state of a patient. The QT interval measure (time after which the ventricles are repolarized) is the most studied [Chevalier et al 2001]. The noise level is also used as a criterion for the selection of a study population because it gives a quality indication.…”

Section: Motivating Examplesmentioning

confidence: 99%

Handling multiple points of view in a multimedia data warehouse

Arigon

Tchounikine

Miquel

2006

ACM Trans. Multimedia Comput. Commun. Appl.

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Data warehouses are dedicated to collecting heterogeneous and distributed data in order to perform decision analysis. Based on multidimensional model, OLAP commercial environments such as they are currently designed in traditional applications are used to provide means for the analysis of facts that are depicted by numeric data (e.g., sales depicted by amount or quantity sold). However, in numerous fields, like in medical or bioinformatics, multimedia data are used as valuable information in the decisional process. One of the problems when integrating multimedia data as facts in a multidimensional model is to deal with dimensions built on descriptors that can be obtained by various computation modes on raw multimedia data. Taking into account these computation modes makes possible the characterization of the data by various points of view depending on the user's profile, his best-practices, his level of expertise, and so on. We propose a new multidimensional model that integrates functional dimension versions allowing the descriptors of the multidimensional data to be computed by different functions. With this approach, the user is able to obtain and choose multiple points of view on the data he analyses. This model is used to develop an OLAP application for navigation into a hypercube integrating various functional dimension versions for the calculus of descriptors in a medical use case.

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Non-invasive testing of acquired long QT syndrome Evidence for multiple arrhythmogenic substrates

Cited by 53 publications

References 37 publications

Sudden infant death syndrome and long QT syndrome: an epidemiological and genetic study

Sudden infant death syndrome and long QT syndrome: an epidemiological and genetic study

QT Prolongation Complicated with Torsades de Pointes in Prosthetic Mitral Valve Endocarditis: A Case Report

Handling multiple points of view in a multimedia data warehouse

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