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 Citations (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

Original language	English
Journal	American Journal of Cardiology
Volume	108
Issue number	11
Pages (from-to)	1606-13
Number of pages	8
ISSN	0002-9149
DOIs	https://doi.org/10.1016/j.amjcard.2011.07.019
Publication status	Published - 1 Dec 2011

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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, vol. 108, no. 11, pp. 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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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

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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

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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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