Electrocardiographic features of sarcomere mutation carriers with and without clinically overt hypertrophic cardiomyopathy

Neal K Lakdawala; Jens Jakob Thune; Barry J Maron; Allison L Cirino; Ole Havndrup; Henning Bundgaard; Michael Christiansen; Christian M Carlsen; Jean-François Dorval; Raymond Y Kwong; Steven D Colan; Lars V Køber; Carolyn Y Ho

doi:http://dx.doi.org/10.1016/j.amjcard.2011.07.019

Electrocardiographic features of sarcomere mutation carriers with and without clinically overt hypertrophic cardiomyopathy

Neal K Lakdawala, Jens Jakob Thune, Barry J Maron, Allison L Cirino, Ole Havndrup, Henning Bundgaard, Michael Christiansen, Christian M Carlsen, Jean-François Dorval, Raymond Y Kwong, Steven D Colan, Lars V Køber, Carolyn Y Ho

47 Citationer (Scopus)

Abstract

In hypertrophic cardiomyopathy (HC), electrocardiographic (ECG) changes have been postulated to be an early marker of disease, detectable in sarcomere mutation carriers when left ventricular (LV) wall thickness is still normal. However, the ECG features of mutation carriers have not been fully characterized. Therefore, we systematically analyzed ECGs in a genotyped HC population to characterize ECG findings in mutation carriers (G+) with and without echocardiographic LV hypertrophy (LVH), and to evaluate the accuracy of ECG findings to differentiate at-risk mutation carriers from genetically unaffected relatives during family screening. The ECG and echocardiographic findings were analyzed from 213 genotyped subjects (76 G+/LVH-, 57 G+/LVH+ overt HC, 80 genetically unaffected controls). Cardiac magnetic resonance imaging was available on a subset. Q waves and repolarization abnormalities (QST) were highly specific (98% specificity) markers for LVH- mutation carriers, present in 25% of G+/LVH- subjects, and 3% of controls (p

Originalsprog	Engelsk
Tidsskrift	American Journal of Cardiology
Vol/bind	108
Udgave nummer	11
Sider (fra-til)	1606-13
Antal sider	8
ISSN	0002-9149
DOI	https://doi.org/10.1016/j.amjcard.2011.07.019
Status	Udgivet - 1 dec. 2011

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http://dx.doi.org/10.1016/j.amjcard.2011.07.019

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Lakdawala, N. K., Thune, J. J., Maron, B. J., Cirino, A. L., Havndrup, O., Bundgaard, H., Christiansen, M., Carlsen, C. M., Dorval, J-F., Kwong, R. Y., Colan, S. D., Køber, L. V., & Ho, C. Y. (2011). Electrocardiographic features of sarcomere mutation carriers with and without clinically overt hypertrophic cardiomyopathy. American Journal of Cardiology, 108(11), 1606-13. https://doi.org/10.1016/j.amjcard.2011.07.019

Lakdawala, NK, Thune, JJ, Maron, BJ, Cirino, AL, Havndrup, O, Bundgaard, H, Christiansen, M, Carlsen, CM, Dorval, J-F, Kwong, RY, Colan, SD, Køber, LV & Ho, CY 2011, 'Electrocardiographic features of sarcomere mutation carriers with and without clinically overt hypertrophic cardiomyopathy', American Journal of Cardiology, bind 108, nr. 11, s. 1606-13. https://doi.org/10.1016/j.amjcard.2011.07.019

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title = "Electrocardiographic features of sarcomere mutation carriers with and without clinically overt hypertrophic cardiomyopathy",

abstract = "In hypertrophic cardiomyopathy (HC), electrocardiographic (ECG) changes have been postulated to be an early marker of disease, detectable in sarcomere mutation carriers when left ventricular (LV) wall thickness is still normal. However, the ECG features of mutation carriers have not been fully characterized. Therefore, we systematically analyzed ECGs in a genotyped HC population to characterize ECG findings in mutation carriers (G+) with and without echocardiographic LV hypertrophy (LVH), and to evaluate the accuracy of ECG findings to differentiate at-risk mutation carriers from genetically unaffected relatives during family screening. The ECG and echocardiographic findings were analyzed from 213 genotyped subjects (76 G+/LVH-, 57 G+/LVH+ overt HC, 80 genetically unaffected controls). Cardiac magnetic resonance imaging was available on a subset. Q waves and repolarization abnormalities (QST) were highly specific (98% specificity) markers for LVH- mutation carriers, present in 25% of G+/LVH- subjects, and 3% of controls (p",

author = "Lakdawala, {Neal K} and Thune, {Jens Jakob} and Maron, {Barry J} and Cirino, {Allison L} and Ole Havndrup and Henning Bundgaard and Michael Christiansen and Carlsen, {Christian M} and Jean-Fran{\c c}ois Dorval and Kwong, {Raymond Y} and Colan, {Steven D} and K{\o}ber, {Lars V} and Ho, {Carolyn Y}",

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T1 - Electrocardiographic features of sarcomere mutation carriers with and without clinically overt hypertrophic cardiomyopathy

AU - Lakdawala, Neal K

AU - Thune, Jens Jakob

AU - Maron, Barry J

AU - Cirino, Allison L

AU - Havndrup, Ole

AU - Bundgaard, Henning

AU - Christiansen, Michael

AU - Carlsen, Christian M

AU - Dorval, Jean-François

AU - Kwong, Raymond Y

AU - Colan, Steven D

AU - Køber, Lars V

AU - Ho, Carolyn Y

PY - 2011/12/1

Y1 - 2011/12/1

N2 - In hypertrophic cardiomyopathy (HC), electrocardiographic (ECG) changes have been postulated to be an early marker of disease, detectable in sarcomere mutation carriers when left ventricular (LV) wall thickness is still normal. However, the ECG features of mutation carriers have not been fully characterized. Therefore, we systematically analyzed ECGs in a genotyped HC population to characterize ECG findings in mutation carriers (G+) with and without echocardiographic LV hypertrophy (LVH), and to evaluate the accuracy of ECG findings to differentiate at-risk mutation carriers from genetically unaffected relatives during family screening. The ECG and echocardiographic findings were analyzed from 213 genotyped subjects (76 G+/LVH-, 57 G+/LVH+ overt HC, 80 genetically unaffected controls). Cardiac magnetic resonance imaging was available on a subset. Q waves and repolarization abnormalities (QST) were highly specific (98% specificity) markers for LVH- mutation carriers, present in 25% of G+/LVH- subjects, and 3% of controls (p

AB - In hypertrophic cardiomyopathy (HC), electrocardiographic (ECG) changes have been postulated to be an early marker of disease, detectable in sarcomere mutation carriers when left ventricular (LV) wall thickness is still normal. However, the ECG features of mutation carriers have not been fully characterized. Therefore, we systematically analyzed ECGs in a genotyped HC population to characterize ECG findings in mutation carriers (G+) with and without echocardiographic LV hypertrophy (LVH), and to evaluate the accuracy of ECG findings to differentiate at-risk mutation carriers from genetically unaffected relatives during family screening. The ECG and echocardiographic findings were analyzed from 213 genotyped subjects (76 G+/LVH-, 57 G+/LVH+ overt HC, 80 genetically unaffected controls). Cardiac magnetic resonance imaging was available on a subset. Q waves and repolarization abnormalities (QST) were highly specific (98% specificity) markers for LVH- mutation carriers, present in 25% of G+/LVH- subjects, and 3% of controls (p

U2 - http://dx.doi.org/10.1016/j.amjcard.2011.07.019

DO - http://dx.doi.org/10.1016/j.amjcard.2011.07.019

M3 - Journal article

SN - 0002-9149

VL - 108

SP - 1606

EP - 1613

JO - Am. J. Cardiol.

JF - Am. J. Cardiol.

IS - 11

ER -

Electrocardiographic features of sarcomere mutation carriers with and without clinically overt hypertrophic cardiomyopathy

Abstract

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