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Novel electrocardiographic features in carriers of hypertrophic cardiomyopathy causing sarcomeric mutations

Mikko Jalanko1, Tiina Heliö1, Pirjo Mustonen2

  • 1Heart and Lung Center, Department of Cardiology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.

Journal of Electrocardiology
|December 1, 2018
PubMed

Insights

Novel electrocardiogram (ECG) parameters show promise in identifying hypertrophic cardiomyopathy (HCM) mutation carriers who do not yet have left ventricular hypertrophy (LVH). These new ECG findings could improve early detection and screening for HCM in families.

Area of Science:

  • Cardiology
  • Genetics
  • Medical Diagnostics

Background:

  • Conventional 12-lead ECG has limited sensitivity and specificity for detecting hypertrophic cardiomyopathy (HCM) mutation carriers without left ventricular hypertrophy (LVH).
  • Early identification of HCM mutation carriers is crucial for timely intervention and management.
  • Genetic predisposition plays a significant role in the development of HCM.

Purpose of the Study:

  • To assess the ability of novel electrocardiographic parameters to improve the detection of HCM mutation carriers, particularly those without LVH.
  • To introduce and evaluate new ECG variables: RV1RV3 and septal remodeling.
  • To compare the diagnostic performance of novel ECG parameters against conventional criteria.

Main Methods:

  • Study included 140 HCM mutation carriers (G+) and 30 controls.
  • Carriers were divided into groups with (G+/LVH+) and without (G+/LVH-) left ventricular hypertrophy.
  • Novel ECG parameters (RV1RV3, septal remodeling) were analyzed alongside standard ECG criteria. Cardiac MRI and echocardiography were performed on a subset.

Main Results:

  • Conventional ECG criteria were highly sensitive (90%) and specific (97%) for G+/LVH+ subjects.
  • RV1RV3 and septal remodeling were significantly more prevalent in G+/LVH- subjects than controls (p<0.005).
  • Combinations of novel parameters with Q waves and repolarization abnormalities (QR) achieved high specificity (97%) in differentiating G+/LVH- subjects from controls.

Conclusions:

  • Novel ECG parameters, RV1RV3 and septal remodeling, are effective in identifying HCM mutation carriers without LVH.
  • These novel ECG findings hold potential for improving diagnostics in suspected HCM cases.
  • The parameters may also be valuable for screening and follow-up within HCM families.
Abstract

Keywords:
ElectrocardiographyHypertrophic cardiomyopathyMutation carrier

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