Electrocardiographic Screening of Arrhythmogenic Cardiomyopathy in Genotype-Positive and Phenotype-Negative Relatives
Background: Arrhythmogenic cardiomyopathy is a hereditary cause of ventricular arrhythmias and sudden death. Identifying the healthy genetic carriers who will develop the disease remains a challenge. A novel approach to the analysis of the digital electrocardiograms of mutation carriers through sign...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2021-05-01
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| Series: | Frontiers in Cardiovascular Medicine |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fcvm.2021.646391/full |
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| author | Jose Maria Lopez-Ayala Javier Gimeno-Blanes David Lopez-Cuenca Maria Sabater Molina Juan Ramon Gimeno-Blanes |
| author_facet | Jose Maria Lopez-Ayala Javier Gimeno-Blanes David Lopez-Cuenca Maria Sabater Molina Juan Ramon Gimeno-Blanes |
| author_sort | Jose Maria Lopez-Ayala |
| collection | DOAJ |
| description | Background: Arrhythmogenic cardiomyopathy is a hereditary cause of ventricular arrhythmias and sudden death. Identifying the healthy genetic carriers who will develop the disease remains a challenge. A novel approach to the analysis of the digital electrocardiograms of mutation carriers through signal processing may identify early electrocardiographic abnormalities.Methods: A retrospective case–control study included a population of healthy genetics carriers and their wild-type relatives. Genotype-positive/phenotype-negative individuals bore mutations associated with the development of arrhythmogenic cardiomyopathy. The relatives included had a non-pathological 12-lead electrocardiogram, echocardiogram, and a cardiac magnetic resonance. Automatic digital electrocardiographic analyses comprised QRS and terminal activation delay duration, the number of QRS fragmentations, ST slope, and T-wave voltage.Results: Digital 12-lead electrocardiograms from 41 genotype-positive/ phenotype-negative (29 simple carriers and 12 double mutation carriers) and 73 wild-type relatives were analyzed. No differences in the QRS length, the number of QRS fragmentations, and the voltage of the T-wave were observed. After adjusting for potential confounders, double carriers showed an average ST-slope flatter than those of the simple carriers and wild type [5.18° (0.73–8.01), 7.15° (5.14–11.05), and 11.46° (3.94–17.49), respectively, p = 0.005]. There was a significant negative correlation between the ST slope and the age in genotype-positive/phenotype-negative relatives (r = 0.376, p = 0.021) not observed in their wild-type counterparts (r = 0.074, p = 0.570).Conclusions: A flattened ST segment may be an early sign of electrical remodeling that precedes T-wave inversion in healthy genetic carriers. A thorough analysis of the digital electrocardiographic signal may help identify and measure early electrical abnormalities. |
| first_indexed | 2024-12-17T00:48:06Z |
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| institution | Directory Open Access Journal |
| issn | 2297-055X |
| language | English |
| last_indexed | 2024-12-17T00:48:06Z |
| publishDate | 2021-05-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Cardiovascular Medicine |
| spelling | doaj.art-62c179d829684c8a9088c50d2e4a7b8a2022-12-21T22:09:50ZengFrontiers Media S.A.Frontiers in Cardiovascular Medicine2297-055X2021-05-01810.3389/fcvm.2021.646391646391Electrocardiographic Screening of Arrhythmogenic Cardiomyopathy in Genotype-Positive and Phenotype-Negative RelativesJose Maria Lopez-Ayala0Javier Gimeno-Blanes1David Lopez-Cuenca2Maria Sabater Molina3Juan Ramon Gimeno-Blanes4Department of Cardiology, San Juan General University Hospital, Alicante, SpainDepartment of Signal Theory and Communications, Miguel Hernández University, Alicante, SpainDepartment of Cardiology, Virgen de la Arrixaca University Hospital, Murcia, SpainDepartment of Cardiology, Virgen de la Arrixaca University Hospital, Murcia, SpainDepartment of Cardiology, Virgen de la Arrixaca University Hospital, Murcia, SpainBackground: Arrhythmogenic cardiomyopathy is a hereditary cause of ventricular arrhythmias and sudden death. Identifying the healthy genetic carriers who will develop the disease remains a challenge. A novel approach to the analysis of the digital electrocardiograms of mutation carriers through signal processing may identify early electrocardiographic abnormalities.Methods: A retrospective case–control study included a population of healthy genetics carriers and their wild-type relatives. Genotype-positive/phenotype-negative individuals bore mutations associated with the development of arrhythmogenic cardiomyopathy. The relatives included had a non-pathological 12-lead electrocardiogram, echocardiogram, and a cardiac magnetic resonance. Automatic digital electrocardiographic analyses comprised QRS and terminal activation delay duration, the number of QRS fragmentations, ST slope, and T-wave voltage.Results: Digital 12-lead electrocardiograms from 41 genotype-positive/ phenotype-negative (29 simple carriers and 12 double mutation carriers) and 73 wild-type relatives were analyzed. No differences in the QRS length, the number of QRS fragmentations, and the voltage of the T-wave were observed. After adjusting for potential confounders, double carriers showed an average ST-slope flatter than those of the simple carriers and wild type [5.18° (0.73–8.01), 7.15° (5.14–11.05), and 11.46° (3.94–17.49), respectively, p = 0.005]. There was a significant negative correlation between the ST slope and the age in genotype-positive/phenotype-negative relatives (r = 0.376, p = 0.021) not observed in their wild-type counterparts (r = 0.074, p = 0.570).Conclusions: A flattened ST segment may be an early sign of electrical remodeling that precedes T-wave inversion in healthy genetic carriers. A thorough analysis of the digital electrocardiographic signal may help identify and measure early electrical abnormalities.https://www.frontiersin.org/articles/10.3389/fcvm.2021.646391/fullarrhythmogenic right ventricular cardiomyopathyelectrocardiogramgenetic carrierearly diagnosisfamiliar screening |
| spellingShingle | Jose Maria Lopez-Ayala Javier Gimeno-Blanes David Lopez-Cuenca Maria Sabater Molina Juan Ramon Gimeno-Blanes Electrocardiographic Screening of Arrhythmogenic Cardiomyopathy in Genotype-Positive and Phenotype-Negative Relatives Frontiers in Cardiovascular Medicine arrhythmogenic right ventricular cardiomyopathy electrocardiogram genetic carrier early diagnosis familiar screening |
| title | Electrocardiographic Screening of Arrhythmogenic Cardiomyopathy in Genotype-Positive and Phenotype-Negative Relatives |
| title_full | Electrocardiographic Screening of Arrhythmogenic Cardiomyopathy in Genotype-Positive and Phenotype-Negative Relatives |
| title_fullStr | Electrocardiographic Screening of Arrhythmogenic Cardiomyopathy in Genotype-Positive and Phenotype-Negative Relatives |
| title_full_unstemmed | Electrocardiographic Screening of Arrhythmogenic Cardiomyopathy in Genotype-Positive and Phenotype-Negative Relatives |
| title_short | Electrocardiographic Screening of Arrhythmogenic Cardiomyopathy in Genotype-Positive and Phenotype-Negative Relatives |
| title_sort | electrocardiographic screening of arrhythmogenic cardiomyopathy in genotype positive and phenotype negative relatives |
| topic | arrhythmogenic right ventricular cardiomyopathy electrocardiogram genetic carrier early diagnosis familiar screening |
| url | https://www.frontiersin.org/articles/10.3389/fcvm.2021.646391/full |
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