Beta-blocker therapy for long QT syndrome and catecholaminergic polymorphic ventricular tachycardia: Are all beta-blockers equivalent?

Ackerman, Michael J.; Priori, Silvia G.; Dubin, Anne M.; Kowey, Peter R.; Linker, Nicholas J.; Slotwiner, David J.; Triedman, John K.; Hare, George F. Van; Gold, Michael R.

doi:10.1016/j.hrthm.2016.09.012

Cited by 105 publications

(56 citation statements)

References 16 publications

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“…The potential pathogenicity of missense variants was evaluated in silico using Provean and Mutation Taster2[ 13 ]. The performance of Provean is comparable to popular tools such as SIFT or PolyPhen-2[ 14 , 15 ]. As supplemental data we used a UniProt database to consult the level of conservation between different species [ 16 ].…”

Section: Methodsmentioning

confidence: 98%

Role of genetic and electrolyte abnormalities in prolonged QTc interval and sudden cardiac death in end-stage renal disease patients

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Ferrer-Costa²,

Pich³

et al. 2018

PLoS ONE

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BackgroundPatients with end-stage renal disease have very high mortality. In individuals on hemodialysis, cardiovascular deaths account for ~50% of all deaths in this population, mostly due to arrhythmia. To determine the causes of these arrhythmic deaths is essential in order to adopt preventive strategies. The main objective of this study was to investigate whether, the presence of QTc interval alterations, from electrolyte abnormalities or presence of rare genetic variants, could have a relationship with sudden arrhythmogenic deaths in end-stage renal disease patients.MethodsWe recorded the pre- and post-dialysis QTc interval in 111 patients undergoing hemodialysis. In 47 of them, we analyzed 24 SCD-related genes including the most prevalent genes associated with long QT syndrome using a custom resequencing panel.ResultsWe found a positive although not significant association between the presence of long QTc and mortality in a subset of end-stage renal disease patients. In addition, in five patients with long QTc only after dialysis (21.7%) we detected rare potentially pathogenic genetic variants. Three out of these five carriers subsequently died suddenly.ConclusionsGenetic background may be determinant in the risk of sudden cardiac death in these patients. We recommend evaluating the QTc interval before and after hemodialysis, and performing a genetic analysis of individuals with long QTc after hemodialysis.

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Section: Methodsmentioning

confidence: 98%

Role of genetic and electrolyte abnormalities in prolonged QTc interval and sudden cardiac death in end-stage renal disease patients

Coll

Ferrer-Costa²,

Pich³

et al. 2018

PLoS ONE

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“…Annotation of called variants was based on several sources, and for population data, we used dbSNP[ 29 ], 1000 Genomes Project[ 30 ], Exome Variants Server (EVS)[ 31 ] and Exome Aggregation Consortium (ExAC) Cambridge, MA (URL: http://exac.broadinstitute.org ). The protein predictors used in the present study were Polyphen2[ 32 ], Provean[ 33 ] and Mutation Taster[ 34 ]. Finally, we also used the splicing predictors MaxEntScan[ 35 ], FSPLICE[ 36 ], GeneSplicer[ 37 ] and NNsplice[ 38 ].…”

Section: Methodsmentioning

confidence: 99%

Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP

et al. 2017

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Sudden unexpected death in epilepsy is an unpredicted condition in patients with a diagnosis of epilepsy, and autopsy does not conclusively identify cause of death. Although the pathophysiological mechanisms that underlie this entity remain unknown, the fact that epilepsy can affect cardiac function is not surprising. The genetic factors involving ion channels co-expressed in the heart and brain and other candidate genes have been previously described. In the present study, 20 epilepsy patients with personal or family history of heart rhythm disturbance/cardiac arrhythmias/sudden death were sequenced using a custom re-sequencing panel. Twenty-six relatives were genetically analysed to ascertain the family segregation in ten individuals. Four subjects revealed variants with positive genotype-phenotype segregation: four missense variants in the CDKL5, CNTNAP2, GRIN2A and ADGRV1 genes and one copy number variant in KCNQ1. The potential pathogenic role of variants in new candidate genes will need further studies in larger cohorts, and the evaluation of the potential pathogenic role in the cardio-cerebral mechanisms requires in vivo/in vitro studies. In addition to family segregation, evaluation of the potential pathogenic roles of these variants in cardio-cerebral mechanisms by in vivo/in vitro studies should also be performed. The potential pathogenic role of variants in new candidate genes will need further studies in larger cohorts.

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“…También se ha descrito cuando se emplean dosis altas de un fármaco que prolongue el QT, intentos de suicidio con dosis tóxicas de fármacos (ej, antipsicóticos y carbonato de litio, entre otros), enfermedad coronaria, insuficiencia cardiaca congestiva, hipertrofia ventricular izquierda, prolapso de válvula mitral o canalopatías, enfermedad hepática, diabetes mellitus, obesidad, anorexia nerviosa, accidente cerebrovascular (ACV), hemorragia intracraneana y subaracnoidea, trauma cráneo encefálico (TCE) e insuficiencia renal. 1,2,4,14,15 Además, se conoce que la susceptibilidad genética, especialmente los fenotipos (síndromes de QT largo, QT corto, polimórfico catecolaminérgico y síndrome de Brugada) se asocian con la prolongación del intervalo QT producido por fármacos en ausencia de cardiopatía estructural 8,16,17 , sin embargo la información actual aún parece estar limitada, como se explica a continuación.…”

Section: Marcadores Electrocardiográficosunclassified

“…Se caracteriza por la presencia de taquicardia ventricular bidireccional, ectopia ventricular creciente, bigeminismos o taquiarritmias supraventriculares. [14][15][16]…”

Section: Síndrome Polimórfico Catecolaminérgico (Lqts)unclassified

Cardiotoxicidad inducida por fármacos: síndrome de QT prolongado con potencial arritmogénico

Benavides

2020

Repert. Med. Cir.

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Introducción: el uso de medicamentos que prolonguen el QT aumenta el riesgo de arritmias cardiacas especialmente taquicardia ventricular polimórfica tipo torsión de puntas (TdP) provocando estancias hospitalarias prolongadas, consulta a servicios de urgencias o incluso la muerte; lo que hace importante conocerlos para prevenir este tipo de reacciones adversas incluso antes de la prescripción del medicamento. Objetivo: esta revisión está enfocada en medicamentos de uso común tanto hospitalaria como ambulatoriamente que puedan producir prolongación del QT y TdP, el mecanismo por el cual se desarrollan este tipo de comorbilidades, los factores de riesgo en el paciente, el enfoque para su prevención y en caso de que se presenten como debe ser su manejo. Conclusión: los medicamentos que pueden causar prolongación del QT deben ser identificados y debidamente estudiados por parte del personal hospitalario y ambulatorio para de esta manera evitar reacciones adversas.

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Beta-blocker therapy for long QT syndrome and catecholaminergic polymorphic ventricular tachycardia: Are all beta-blockers equivalent?

Cited by 105 publications

References 16 publications

Role of genetic and electrolyte abnormalities in prolonged QTc interval and sudden cardiac death in end-stage renal disease patients

Role of genetic and electrolyte abnormalities in prolonged QTc interval and sudden cardiac death in end-stage renal disease patients

Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP

Cardiotoxicidad inducida por fármacos: síndrome de QT prolongado con potencial arritmogénico

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