The surdo-cardiac syndrome

A, Jervell; Thingstad, Rolv; Endsjö, Thor-Öistein

doi:10.1016/0002-8703(66)90340-1

Cited by 79 publications

(15 citation statements)

References 5 publications

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“…Clinical details have been previously reported for some of the families (Jervell et al 1966;Jervell and Lange-Nielsen 1957;Tyson et al 1997). Family UK2T has been described previously and shows linkage to the KCNQ1 locus (Tyson et al 1997); the QT c of the mother is 430 ms and that of the father is 429 ms. Family UK3C has been described previously (Jeffery et al 1992); the QT c of the mother is 428 ms and that of the father is 430 ms.…”

Section: Methodsmentioning

confidence: 95%

Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen

Tyson¹,

Tranebjærg

McEntagart³

et al. 2000

Human Genetics

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Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive syndrome characterised by profound congenital sensorineural deafness and prolongation of the QT interval on the electrocardiogram, representing abnormal ventricular repolarisation. In a study of ten British and Norwegian families with JLNS, we have identified all of the mutations in the KCNQ1 gene, including two that are novel. Of the nine mutations identified in this group of 10 families, five are nonsense or frameshift mutations. Truncation of the protein proximal to the recently identified C-terminal assembly domain is expected to preclude assembly of KCNQ1 monomers into tetramers and explains the recessive inheritance of JLNS. However, study of a frameshift mutation, with a dominant effect phenotypically, suggests the presence of another assembly domain nearer to the N-terminus.

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Section: Methodsmentioning

confidence: 95%

Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen

Tyson¹,

Tranebjærg

McEntagart³

et al. 2000

Human Genetics

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“…A medical examination before her death was also normal, except for her prolonged QT interval on several occasions. Of interest, mechanical systole evaluated by phonocardiography, was not correspondingly lengthened in these patients [9]. …”

Section: Qt Historymentioning

confidence: 99%

The Measurement of the QT Interval

Postema¹,

Wilde

2014

CCR

264

211

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The evaluation of every electrocardiogram should also include an effort to interpret the QT interval to assess the risk of malignant arrhythmias and sudden death associated with an aberrant QT interval. The QT interval is measured from the beginning of the QRS complex to the end of the T-wave, and should be corrected for heart rate to enable comparison with reference values. However, the correct determination of the QT interval, and its value, appears to be a daunting task. Although computerized analysis and interpretation of the QT interval are widely available, these might well over- or underestimate the QT interval and may thus either result in unnecessary treatment or preclude appropriate measures to be taken. This is particularly evident with difficult T-wave morphologies and technically suboptimal ECGs. Similarly, also accurate manual assessment of the QT interval appears to be difficult for many physicians worldwide. In this review we delineate the history of the measurement of the QT interval, its underlying pathophysiological mechanisms and the current standards of the measurement of the QT interval, we provide a glimpse into the future and we discuss several issues troubling accurate measurement of the QT interval. These issues include the lead choice, U-waves, determination of the end of the T-wave, different heart rate correction formulas, arrhythmias and the definition of normal and aberrant QT intervals. Furthermore, we provide recommendations that may serve as guidance to address these complexities and which support accurate assessment of the QT interval and its interpretation.

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“…Ventricular tachycardia has been found in children and young adults with no detectable structural heart disease [2,4,6,7,9,10,14,15,[17][18][19]21,25,27,28,31,34,36] . The prognosis has varied, from benign to malignant .…”

Section: Discussionmentioning

confidence: 99%

Exercise-induced ventricular tachycardia

1982

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Exercise tests were done on all patients referred to us because of ventricular premature beats. Exercise-associated ventricular tachycardia was seen in three of these patients. Once therapy for the arrhythmia was begun in two patients, we performed serial exercise tests, attempting to provoke the arrhythmia again. In the third patients, who was pregnant, we advised against strenuous physical activity and will exercise her post partum to determine whether therapy is warranted. We have shown that exercise testing can be used successfully in unmasking ventricular arrhythmias not detectable on resting evaluation.

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The surdo-cardiac syndrome

Cited by 79 publications

References 5 publications

Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen

Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen

The Measurement of the QT Interval

Exercise-induced ventricular tachycardia

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