The phenotypic and genetic features of arrhythmogenic cardiomyopathy in the pediatric population
IntroductionThe present study aimed to describe the phenotypic features and genetic spectrum of arrhythmogenic cardiomyopathy (ACM) presented in childhood and test the validity of different diagnostic approaches using Task Force Criteria 2010 (TFC) and recently proposed Padua criteria.Patients and m...
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| Format: | Article |
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Frontiers Media S.A.
2023-09-01
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| Series: | Frontiers in Cardiovascular Medicine |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fcvm.2023.1216976/full |
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| author | Olga Kofeynikova Daria Alekseeva Tatiana Vershinina Svetlana Fetisova Olga Peregudina Tatiana Kovalchuk Elena Yakovleva Polina Sokolnikova Alexandra Klyushina Kseniia Chueva Anna Kostareva Anna Kostareva Tatiana Pervunina Elena Vasichkina |
| author_facet | Olga Kofeynikova Daria Alekseeva Tatiana Vershinina Svetlana Fetisova Olga Peregudina Tatiana Kovalchuk Elena Yakovleva Polina Sokolnikova Alexandra Klyushina Kseniia Chueva Anna Kostareva Anna Kostareva Tatiana Pervunina Elena Vasichkina |
| author_sort | Olga Kofeynikova |
| collection | DOAJ |
| description | IntroductionThe present study aimed to describe the phenotypic features and genetic spectrum of arrhythmogenic cardiomyopathy (ACM) presented in childhood and test the validity of different diagnostic approaches using Task Force Criteria 2010 (TFC) and recently proposed Padua criteria.Patients and methodsThirteen patients (mean age at diagnosis 13.6 ± 3.7 years) were enrolled using “definite” or “borderline” diagnostic criteria of ACM according to the TFC 2010 and the Padua criteria in patients <18 years old. Clinical data, including family history, 12-lead electrocardiogram (ECG), signal-averaged ECG, 24-h Holter monitoring, imaging techniques, genetic testing, and other relevant information, were collected.ResultsAll patients were classified into three variants: ACM of right ventricle (ACM-RV; n = 6, 46.1%), biventricular ACM (ACM-BV; n = 3, 23.1%), and ACM of left ventricle (ACM-LV; n = 4, 30.8%). The most common symptoms at presentations were syncope (n = 6; 46.1%) and palpitations (n = 5; 38.5%). All patients had more than 500 premature ventricular contractions per day. Ventricular tachycardia was reported in 10 patients (76.9%), and right ventricular dilatation was registered in 8 patients (61.5%). An implantable cardiac defibrillator was implanted in 61.5% of cases, and three patients with biventricular involvement underwent heart transplantation. Desmosomal mutations were identified in 8 children (53.8%), including four patients with PKP2 variants, two with DSP variants, one with DSG2 variant, and one with JUP. Four patients carried compound heterozygous variants in desmosomal genes associated with left ventricular involvement.ConclusionArrhythmias and structural heart disease, such as chamber dilatation, should raise suspicion of different ACM phenotypes. Diagnosis of ACM might be difficult in pediatric patients, especially for ACM-LV and ACM-BV forms. Our study confirmed that using “Padua criteria” in combination with genetic testing improves the diagnostic accuracy of ACM in children. |
| first_indexed | 2024-03-11T23:58:50Z |
| format | Article |
| id | doaj.art-1655c203a98949849ab3c83f9cee4a9b |
| institution | Directory Open Access Journal |
| issn | 2297-055X |
| language | English |
| last_indexed | 2024-03-11T23:58:50Z |
| publishDate | 2023-09-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Cardiovascular Medicine |
| spelling | doaj.art-1655c203a98949849ab3c83f9cee4a9b2023-09-18T05:49:47ZengFrontiers Media S.A.Frontiers in Cardiovascular Medicine2297-055X2023-09-011010.3389/fcvm.2023.12169761216976The phenotypic and genetic features of arrhythmogenic cardiomyopathy in the pediatric populationOlga Kofeynikova0Daria Alekseeva1Tatiana Vershinina2Svetlana Fetisova3Olga Peregudina4Tatiana Kovalchuk5Elena Yakovleva6Polina Sokolnikova7Alexandra Klyushina8Kseniia Chueva9Anna Kostareva10Anna Kostareva11Tatiana Pervunina12Elena Vasichkina13World-Class Research Centre for Personalized Medicine, Almazov National Medical Research Centre, Saint Petersburg, RussiaWorld-Class Research Centre for Personalized Medicine, Almazov National Medical Research Centre, Saint Petersburg, RussiaWorld-Class Research Centre for Personalized Medicine, Almazov National Medical Research Centre, Saint Petersburg, RussiaWorld-Class Research Centre for Personalized Medicine, Almazov National Medical Research Centre, Saint Petersburg, RussiaWorld-Class Research Centre for Personalized Medicine, Almazov National Medical Research Centre, Saint Petersburg, RussiaWorld-Class Research Centre for Personalized Medicine, Almazov National Medical Research Centre, Saint Petersburg, RussiaWorld-Class Research Centre for Personalized Medicine, Almazov National Medical Research Centre, Saint Petersburg, RussiaWorld-Class Research Centre for Personalized Medicine, Almazov National Medical Research Centre, Saint Petersburg, RussiaWorld-Class Research Centre for Personalized Medicine, Almazov National Medical Research Centre, Saint Petersburg, RussiaDepartment of Pediatric Cardiology, Almazov National Medical Research Centre, Saint Petersburg, RussiaInstitute of Molecular Biology and Genetics, Almazov National Medical Research Centre, Saint Petersburg, RussiaDepartment of Women’s and Children’s Health and Center for Molecular Medicine, Karolinska Institutet (KI), Solna, SwedenInstitute of Perinatology and Pediatrics, Almazov National Medical Research Centre, Saint Petersburg, RussiaWorld-Class Research Centre for Personalized Medicine, Almazov National Medical Research Centre, Saint Petersburg, RussiaIntroductionThe present study aimed to describe the phenotypic features and genetic spectrum of arrhythmogenic cardiomyopathy (ACM) presented in childhood and test the validity of different diagnostic approaches using Task Force Criteria 2010 (TFC) and recently proposed Padua criteria.Patients and methodsThirteen patients (mean age at diagnosis 13.6 ± 3.7 years) were enrolled using “definite” or “borderline” diagnostic criteria of ACM according to the TFC 2010 and the Padua criteria in patients <18 years old. Clinical data, including family history, 12-lead electrocardiogram (ECG), signal-averaged ECG, 24-h Holter monitoring, imaging techniques, genetic testing, and other relevant information, were collected.ResultsAll patients were classified into three variants: ACM of right ventricle (ACM-RV; n = 6, 46.1%), biventricular ACM (ACM-BV; n = 3, 23.1%), and ACM of left ventricle (ACM-LV; n = 4, 30.8%). The most common symptoms at presentations were syncope (n = 6; 46.1%) and palpitations (n = 5; 38.5%). All patients had more than 500 premature ventricular contractions per day. Ventricular tachycardia was reported in 10 patients (76.9%), and right ventricular dilatation was registered in 8 patients (61.5%). An implantable cardiac defibrillator was implanted in 61.5% of cases, and three patients with biventricular involvement underwent heart transplantation. Desmosomal mutations were identified in 8 children (53.8%), including four patients with PKP2 variants, two with DSP variants, one with DSG2 variant, and one with JUP. Four patients carried compound heterozygous variants in desmosomal genes associated with left ventricular involvement.ConclusionArrhythmias and structural heart disease, such as chamber dilatation, should raise suspicion of different ACM phenotypes. Diagnosis of ACM might be difficult in pediatric patients, especially for ACM-LV and ACM-BV forms. Our study confirmed that using “Padua criteria” in combination with genetic testing improves the diagnostic accuracy of ACM in children.https://www.frontiersin.org/articles/10.3389/fcvm.2023.1216976/fullarrhythmogenic cardiomyopathychildrensudden cardiac deathventricular arrhythmiatask force criteriaPadua criteria |
| spellingShingle | Olga Kofeynikova Daria Alekseeva Tatiana Vershinina Svetlana Fetisova Olga Peregudina Tatiana Kovalchuk Elena Yakovleva Polina Sokolnikova Alexandra Klyushina Kseniia Chueva Anna Kostareva Anna Kostareva Tatiana Pervunina Elena Vasichkina The phenotypic and genetic features of arrhythmogenic cardiomyopathy in the pediatric population Frontiers in Cardiovascular Medicine arrhythmogenic cardiomyopathy children sudden cardiac death ventricular arrhythmia task force criteria Padua criteria |
| title | The phenotypic and genetic features of arrhythmogenic cardiomyopathy in the pediatric population |
| title_full | The phenotypic and genetic features of arrhythmogenic cardiomyopathy in the pediatric population |
| title_fullStr | The phenotypic and genetic features of arrhythmogenic cardiomyopathy in the pediatric population |
| title_full_unstemmed | The phenotypic and genetic features of arrhythmogenic cardiomyopathy in the pediatric population |
| title_short | The phenotypic and genetic features of arrhythmogenic cardiomyopathy in the pediatric population |
| title_sort | phenotypic and genetic features of arrhythmogenic cardiomyopathy in the pediatric population |
| topic | arrhythmogenic cardiomyopathy children sudden cardiac death ventricular arrhythmia task force criteria Padua criteria |
| url | https://www.frontiersin.org/articles/10.3389/fcvm.2023.1216976/full |
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