Novel electrocardiographic features in carriers of hypertrophic cardiomyopathy causing sarcomeric mutations

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Jalanko , M , Heliö , T , Mustonen , P , Kokkonen , J , Huhtala , H , Laine , M , Jääskeläinen , P , Tarkiainen , M , Lauerma , K , Sipola , P , Laakso , M , Kuusisto , J & Nikus , K 2018 , ' Novel electrocardiographic features in carriers of hypertrophic cardiomyopathy causing sarcomeric mutations ' , Journal of Electrocardiology , vol. 51 , no. 6 , pp. 983-989 . https://doi.org/10.1016/j.jelectrocard.2018.07.009

Title: Novel electrocardiographic features in carriers of hypertrophic cardiomyopathy causing sarcomeric mutations
Author: Jalanko, Mikko; Heliö, Tiina; Mustonen, Pirjo; Kokkonen, Jorma; Huhtala, Heini; Laine, Mika; Jääskeläinen, Pertti; Tarkiainen, Mika; Lauerma, Kirsi; Sipola, Petri; Laakso, Markku; Kuusisto, Johanna; Nikus, Kjell
Contributor: University of Helsinki, HUS Heart and Lung Center
University of Helsinki, Department of Medicine
University of Helsinki, Kardiologian yksikkö
University of Helsinki, Department of Diagnostics and Therapeutics
Date: 2018
Language: eng
Number of pages: 7
Belongs to series: Journal of Electrocardiology
ISSN: 0022-0736
URI: http://hdl.handle.net/10138/308867
Abstract: Objectives: The sensitivity and specificity of the conventional 12-lead ECG to identify carriers of hypertrophic cardiomyopathy (HCM) - causing mutations without left ventricular hypertrophy (LVH) has been limited. We assessed the ability of novel electrocardiographic parameters to improve the detection of HCM mutation carriers. Methods: We studied 140 carriers (G+) of the TPM7-Asp175Asn or MYBPC3-Glnl 061X pathogenic variants for HCM: The G+/LVH+ group (n = 98) consisted of mutation carriers with LVH and the G+/LVH- group (n = 42) without LVH. The control group consisted of 30 subjects. The standard 12-lead ECG was comprehensively analyzed and two novel ECG variables were introduced: RVlRV3 and septal remodeling. A subset of 65 individuals underwent cardiac magnetic resonance imaging and 2D strain echocardiography. Results: Conventional major ECG criteria were sensitive (90%) and specific (97%) in identifying G+/LVH+ subjects. RV1RV3 and septal remodeling were more prevalent in the G+/LVH- subjects compared to the control group (33% vs 3%, p = 0.005 and 45% vs 3%, p <0.001, respectively). The combination of RVlRV3 and Q waves and repolarization abnormalities (QR) differentiated between the G+/LVH- subjects and the control group with a sensitivity of 52% and specificity of 97%. The combination of septa] remodeling and QR differentiated between G+/LVH- subjects and the control group with a sensitivity of 64% and specificity of 97%. Conclusions: The novel ECG-parameters RVlRV3 and septal remodeling were effective in identifying G+/LVH-subjects and could be useful in the diagnostics of new suspected HCM patients and in the screening and follow-up of HCM families. (C) 2018 Elsevier Inc. All rights reserved.
Subject: Hypertrophic cardiomyopathy
Mutation carrier
Electrocardiography
LEFT-VENTRICULAR HYPERTROPHY
PHENOTYPIC-EXPRESSION
DIAGNOSTIC-VALUE
SUDDEN-DEATH
Q-WAVES
PATTERNS
CRITERIA
3126 Surgery, anesthesiology, intensive care, radiology
3121 General medicine, internal medicine and other clinical medicine
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