ECG-based techniques to enhance clinical practice in cardiac genetic disease management

Machteld Boonstra; Manon Kloosterman; Iris van der Schaaf; Rob Roudijk; Peter van Dam; Peter Loh

doi:10.1016/j.jelectrocard.2022.10.013

ECG-based techniques to enhance clinical practice in cardiac genetic disease management

J Electrocardiol. 2023 Jan-Feb:76:55-60. doi: 10.1016/j.jelectrocard.2022.10.013. Epub 2022 Nov 14.

Authors

Machteld Boonstra¹, Manon Kloosterman¹, Iris van der Schaaf¹, Rob Roudijk², Peter van Dam¹, Peter Loh³

Affiliations

¹ Department of Cardiology, Division Heart & Lungs, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.
² Department of Cardiology, Division Heart & Lungs, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands; Netherlands Heart Institute, Utrecht, the Netherlands.
³ Department of Cardiology, Division Heart & Lungs, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands. Electronic address: p.loh@umcutrecht.nl.

PMID: 36436475
DOI: 10.1016/j.jelectrocard.2022.10.013

Abstract

Introduction: Inherited cardiomyopathies are associated with a broad spectrum of potentially lethal phenotypes characterized by structural and electrical myocardial remodeling. Increased awareness and genetic cascade screening lead to more genotype-positive, yet phenotype-negative individuals to be evaluated and followed up. The predictive value of genetic testing is hampered by incomplete penetrance and high variability in disease onset, progression and severity.

Clinical challenges: Dilated cardiomyopathy usually manifests with symptoms of heart failure and ventricular arrhythmias (VA) develop in advanced disease. In arrhythmogenic cardiomyopathy (ACM), electrical remodeling can precede structural and functional changes and life-threatening VA can be the first disease manifestation. Early signs and symptoms may be subtle and go unnoticed. Physicians are in great need of appropriate screening and risk-stratification strategies. Task Force Criteria (TFC) were established to standardize the clinical diagnosis of ACM but risk-stratification remains challenging. Accurate prediction of disease progression in variation carriers is currently beyond the capabilities of diagnostic tests.

Proposed diagnostic techniques: We propose three ECG-based techniques; isopotential mapping, inverse ECG and CineECG, to enhance risk-stratification in ACM. With the use of isopotential mapping abnormal spatio-temporal activation and repolarization may be identified. Furthermore, by combining subject specific ≥12‑lead ECG data with cardiothoracic imaging using inverse ECG techniques, the direct link between ECG and cardiac anatomy can be obtained.

Conclusion: New ECG techniques may prove more sensitive to detect early de- and repolarization abnormalities in yet asymptomatic variation carriers. Early electrical signs of disease progression may be identified prior to symptoms. Furthermore, individualized risk-stratification may be enhanced.

Keywords: Arrhythmogenic cardiomyopathy; Dilated cardiomyopathy; Electrocardiogram; Genetics; Inverse ECG techniques; Ventricular arrhytmias.

Publication types

Review
Research Support, Non-U.S. Gov't

MeSH terms

Arrhythmias, Cardiac / diagnosis
Arrhythmias, Cardiac / genetics
Arrhythmogenic Right Ventricular Dysplasia* / diagnosis
Cardiomyopathies*
Disease Management
Disease Progression
Electrocardiography
Humans