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5 záznamů v Medvik Filtry

Článek

Architectural T-Wave Analysis and Identification of On-Therapy Breakthrough Arrhythmic Risk in Type 1 and Type 2 Long-QT Syndrome

Sugrue, Alan
Autor Sugrue, Alan From the Division of Heart Rhythm Services, Department of Cardiovascular Diseases (A.S., P.A.N., V.K., B.Q., Z.I.A., P.B., S.J.A., P.A.F., M.J.A.), Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine (R.K.R., J.M.B., S.J.A., M.J.A.), and Department of Molecular Pharmacology and Experimental Therapeutics (J.M.B., M.J.A.), Windland Smith Rice Sudden Death Genomics Laboratory, and Division of Biomedical Statistics and Informatics (C.G.S.), Mayo Clinic, Rochester, MN Czech Institute of Informatics, Robotics, and Cybernetics, Czech Technical University in Prague (V.K.) and Electrical and Computer Engineering, Ben-Gurion University of the Negev, Beer Sheva, Israel (Y.S.)
Rohatgi, Ram K
Autor Rohatgi, Ram K From the Division of Heart Rhythm Services, Department of Cardiovascular Diseases (A.S., P.A.N., V.K., B.Q., Z.I.A., P.B., S.J.A., P.A.F., M.J.A.), Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine (R.K.R., J.M.B., S.J.A., M.J.A.), and Department of Molecular Pharmacology and Experimental Therapeutics (J.M.B., M.J.A.), Windland Smith Rice Sudden Death Genomics Laboratory, and Division of Biomedical Statistics and Informatics (C.G.S.), Mayo Clinic, Rochester, MN Czech Institute of Informatics, Robotics, and Cybernetics, Czech Technical University in Prague (V.K.) and Electrical and Computer Engineering, Ben-Gurion University of the Negev, Beer Sheva, Israel (Y.S.)
Noseworthy, Peter A
Autor Noseworthy, Peter A From the Division of Heart Rhythm Services, Department of Cardiovascular Diseases (A.S., P.A.N., V.K., B.Q., Z.I.A., P.B., S.J.A., P.A.F., M.J.A.), Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine (R.K.R., J.M.B., S.J.A., M.J.A.), and Department of Molecular Pharmacology and Experimental Therapeutics (J.M.B., M.J.A.), Windland Smith Rice Sudden Death Genomics Laboratory, and Division of Biomedical Statistics and Informatics (C.G.S.), Mayo Clinic, Rochester, MN Czech Institute of Informatics, Robotics, and Cybernetics, Czech Technical University in Prague (V.K.) and Electrical and Computer Engineering, Ben-Gurion University of the Negev, Beer Sheva, Israel (Y.S.)
Kremen, Vaclav
Autor Kremen, Vaclav From the Division of Heart Rhythm Services, Department of Cardiovascular Diseases (A.S., P.A.N., V.K., B.Q., Z.I.A., P.B., S.J.A., P.A.F., M.J.A.), Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine (R.K.R., J.M.B., S.J.A., M.J.A.), and Department of Molecular Pharmacology and Experimental Therapeutics (J.M.B., M.J.A.), Windland Smith Rice Sudden Death Genomics Laboratory, and Division of Biomedical Statistics and Informatics (C.G.S.), Mayo Clinic, Rochester, MN Czech Institute of Informatics, Robotics, and Cybernetics, Czech Technical University in Prague (V.K.) and Electrical and Computer Engineering, Ben-Gurion University of the Negev, Beer Sheva, Israel (Y.S.)
Bos, J Martijn
Autor Bos, J Martijn From the Division of Heart Rhythm Services, Department of Cardiovascular Diseases (A.S., P.A.N., V.K., B.Q., Z.I.A., P.B., S.J.A., P.A.F., M.J.A.), Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine (R.K.R., J.M.B., S.J.A., M.J.A.), and Department of Molecular Pharmacology and Experimental Therapeutics (J.M.B., M.J.A.), Windland Smith Rice Sudden Death Genomics Laboratory, and Division of Biomedical Statistics and Informatics (C.G.S.), Mayo Clinic, Rochester, MN Czech Institute of Informatics, Robotics, and Cybernetics, Czech Technical University in Prague (V.K.) and Electrical and Computer Engineering, Ben-Gurion University of the Negev, Beer Sheva, Israel (Y.S.)
Qiang, Bo
Autor Qiang, Bo From the Division of Heart Rhythm Services, Department of Cardiovascular Diseases (A.S., P.A.N., V.K., B.Q., Z.I.A., P.B., S.J.A., P.A.F., M.J.A.), Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine (R.K.R., J.M.B., S.J.A., M.J.A.), and Department of Molecular Pharmacology and Experimental Therapeutics (J.M.B., M.J.A.), Windland Smith Rice Sudden Death Genomics Laboratory, and Division of Biomedical Statistics and Informatics (C.G.S.), Mayo Clinic, Rochester, MN Czech Institute of Informatics, Robotics, and Cybernetics, Czech Technical University in Prague (V.K.) and Electrical and Computer Engineering, Ben-Gurion University of the Negev, Beer Sheva, Israel (Y.S.)
Sapir, Yehu
Autor Sapir, Yehu From the Division of Heart Rhythm Services, Department of Cardiovascular Diseases (A.S., P.A.N., V.K., B.Q., Z.I.A., P.B., S.J.A., P.A.F., M.J.A.), Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine (R.K.R., J.M.B., S.J.A., M.J.A.), and Department of Molecular Pharmacology and Experimental Therapeutics (J.M.B., M.J.A.), Windland Smith Rice Sudden Death Genomics Laboratory, and Division of Biomedical Statistics and Informatics (C.G.S.), Mayo Clinic, Rochester, MN Czech Institute of Informatics, Robotics, and Cybernetics, Czech Technical University in Prague (V.K.) and Electrical and Computer Engineering, Ben-Gurion University of the Negev, Beer Sheva, Israel (Y.S.)
Attia, Zachi I
Autor Attia, Zachi I From the Division of Heart Rhythm Services, Department of Cardiovascular Diseases (A.S., P.A.N., V.K., B.Q., Z.I.A., P.B., S.J.A., P.A.F., M.J.A.), Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine (R.K.R., J.M.B., S.J.A., M.J.A.), and Department of Molecular Pharmacology and Experimental Therapeutics (J.M.B., M.J.A.), Windland Smith Rice Sudden Death Genomics Laboratory, and Division of Biomedical Statistics and Informatics (C.G.S.), Mayo Clinic, Rochester, MN Czech Institute of Informatics, Robotics, and Cybernetics, Czech Technical University in Prague (V.K.) and Electrical and Computer Engineering, Ben-Gurion University of the Negev, Beer Sheva, Israel (Y.S.)
Scott, Christopher G
Autor Scott, Christopher G From the Division of Heart Rhythm Services, Department of Cardiovascular Diseases (A.S., P.A.N., V.K., B.Q., Z.I.A., P.B., S.J.A., P.A.F., M.J.A.), Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine (R.K.R., J.M.B., S.J.A., M.J.A.), and Department of Molecular Pharmacology and Experimental Therapeutics (J.M.B., M.J.A.), Windland Smith Rice Sudden Death Genomics Laboratory, and Division of Biomedical Statistics and Informatics (C.G.S.), Mayo Clinic, Rochester, MN Czech Institute of Informatics, Robotics, and Cybernetics, Czech Technical University in Prague (V.K.) and Electrical and Computer Engineering, Ben-Gurion University of the Negev, Beer Sheva, Israel (Y.S.)
Brady, Peter
Autor Brady, Peter From the Division of Heart Rhythm Services, Department of Cardiovascular Diseases (A.S., P.A.N., V.K., B.Q., Z.I.A., P.B., S.J.A., P.A.F., M.J.A.), Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine (R.K.R., J.M.B., S.J.A., M.J.A.), and Department of Molecular Pharmacology and Experimental Therapeutics (J.M.B., M.J.A.), Windland Smith Rice Sudden Death Genomics Laboratory, and Division of Biomedical Statistics and Informatics (C.G.S.), Mayo Clinic, Rochester, MN Czech Institute of Informatics, Robotics, and Cybernetics, Czech Technical University in Prague (V.K.) and Electrical and Computer Engineering, Ben-Gurion University of the Negev, Beer Sheva, Israel (Y.S.)

Circulation. Arrhythmia and electrophysiology. 2017 ; 10 (11) : .

Circ Arrhythm Electrophysiol
ISSN 1941-3084
Medvik
Zdroj

BACKGROUND: Although the hallmark of long-QT syndrome (LQTS) is abnormal cardiac repolarization, there are varying degrees of phenotypic expression and arrhythmic risk. Our aim was to evaluate the performance of a morphological T-wave analysis program in defining breakthrough LQTS arrhythmic risk beyond the QTc value. METHODS AND RESULTS: We analyzed 407 genetically confirmed patients with LQT1 (n=246; 43% men) and LQT2 (n=161; 41% men) over the mean follow-up period of 6.4±3.9 years. ECG analysis was conducted using a novel, proprietary T-wave analysis program. Time to a LQTS-associated cardiac event was analyzed using Cox proportional hazards regression methods. Twenty-three patients experienced ≥1 defined breakthrough cardiac arrhythmic events with 5- and 10-year event rates of 4% and 7%. Two independent predictors of future LQTS-associated cardiac events from the surface ECG were identified: left slope of T wave in lead V6 (hazard ratio=0.40 [0.24-0.69]; P<0.001) and T-wave center of gravity x axis (last 25% of wave) in lead I (hazard ratio=1.90 [1.21-2.99]; P=0.005), C statistic of 0.77 (0.65-0.89). When added to the QTc (C statistic 0.68 for QTc alone), discrimination improved to 0.78. Genotype analysis showed weaker association between these T-wave variables and LQT1-triggered events while these features were stronger in patients with LQT2 and significantly outperformed the QTc (C statistic, 0.82 [0.71-0.93]). CONCLUSION: Detailed morphological analysis of the T wave provides novel insights into risk of breakthrough arrhythmic events in LQTS, particularly LQT2. This observation has the potential to guide clinical decision making and further refine risk stratification.

Článek

Long-QT mutation p.K557E-Kv7.1: dominant-negative suppression of IKs, but preserved cAMP-dependent up-regulation

Cardiovascular Research. 2014 ; 104 (1) : 216-25.

Cardiovasc Res
ISSN 1755-3245
Medvik
Zdroj

AIMS: Mutations in KCNQ1, encoding for Kv7.1, the α-subunit of the IKs channel, cause long-QT syndrome type 1, potentially predisposing patients to ventricular tachyarrhythmias and sudden cardiac death, in particular, during elevated sympathetic tone. Here, we aim at characterizing the p.Lys557Glu (K557E) Kv7.1 mutation, identified in a Dutch kindred, at baseline and during (mimicked) increased adrenergic tone. METHODS AND RESULTS: K557E carriers had moderate QTc prolongation that augmented significantly during exercise. IKs characteristics were determined after co-expressing Kv7.1-wild-type (WT) and/or K557E with minK and Yotiao in Chinese hamster ovary cells. K557E caused IKs loss of function with slowing of the activation kinetics, acceleration of deactivation kinetics, and a rightward shift of voltage-dependent activation. Together, these contributed to a dominant-negative reduction in IKs density. Confocal microscopy and western blot indicated that trafficking of K557E channels was not impaired. Stimulation of WT IKs by 3'-5'-cyclic adenosine monophosphate (cAMP) generated strong current up-regulation that was preserved for K557E in both hetero- and homozygosis. Accumulation of IKs at fast rates occurred both in WT and in K557E, but was blunted in the latter. In a computational model, K557E showed a loss of action potential shortening during β-adrenergic stimulation, in accordance with the lack of QT shortening during exercise in patients. CONCLUSION: K557E causes IKs loss of function with reduced fast rate-dependent current accumulation. cAMP-dependent stimulation of mutant IKs is preserved, but incapable of fully compensating for the baseline current reduction, explaining the long QT intervals at baseline and the abnormal QT accommodation during exercise in affected patients.

Článek

A new homozygous mutation of the KCNQ1 gene associated with both Romano-Ward and incomplete Jervell Lange-Nielsen syndromes in two sisters

Heart rhythm. 2010 ; 7 (4) : 531-533.

Heart Rhythm
ISSN 1556-3871
Medvik
Zdroj

MeSH
defibrilátory implantabilní MeSH
dospělí MeSH
draslíkový kanál KCNQ1 genetika MeSH
Jervellův-Lange-Nielsenův syndrom genetika terapie MeSH
lidé MeSH
mutace MeSH
rodokmen MeSH
Romanův-Wardův syndrom genetika terapie MeSH
sourozenci MeSH
Check Tag
dospělí MeSH
lidé MeSH
ženské pohlaví MeSH
Publikační typ
časopisecké články MeSH
kazuistiky MeSH

Článek

The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome

Pacing and clinical electrophysiology. 2006 ; 29 (9) : 1013-1015.

Pacing Clin Electrophysiol
ISSN 0147-8389
Medvik
Zdroj

In a 7-year-old boy with normal hearing suffering from repeated syncope an extremely prolonged QTc interval (up to 700 ms) was found. The mother was completely asymptomatic and the father had an intermittently borderline QTc interval (maximum 470 ms) but no symptoms. In the proband a mutation analysis of KCNQ1 gene revealed a homozygous 1893insC mutation. The parents were heterozygous for this mutation. There was no consanguineous marriage in the family. The clinical relevance of these findings is that apparently normal individuals may have a latent reduction of repolarizing currents, a "reduced repolarization reserve," because they are carriers of latent ion channel genes mutations.

MeSH
dítě MeSH
draslíkový kanál KCNQ1 * genetika MeSH
elektrokardiografie metody MeSH
genetická predispozice k nemoci genetika MeSH
geny recesivní * genetika MeSH
heterozygot MeSH
jednonukleotidový polymorfismus genetika MeSH
lidé MeSH
molekulární sekvence - údaje MeSH
mutace MeSH
Romanův-Wardův syndrom * diagnóza genetika MeSH
sekvence nukleotidů MeSH
Check Tag
dítě MeSH
lidé MeSH
mužské pohlaví MeSH
Publikační typ
kazuistiky MeSH
práce podpořená grantem MeSH

Článek

Syndrom LQT a mutační analýza genů, jejichž mutace způsobují tento syndrom : 9. celostátní konference DNA diagnostiky s mezinárodní účastí. Praha, 8. a 9. prosince 2005

Časopis lékařů českých. 2006 ; Roč. 145 (č. 3) : s. 226.

ISSN 0008-7335
Medvik
Zdroj

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