Genetic Background and Clinical Features in Arrhythmogenic Left Ventricular Cardiomyopathy: A Systematic Review
In recent years a phenotypic variant of Arrhythmogenic cardiomyopathy has been described, characterized by predominant left ventricular (LV) involvement with no or minor right ventricular abnormalities, referred to as Arrhythmogenic left ventricular cardiomyopathy (ALVC). Different disease-genes hav...
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MDPI AG
2022-07-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/11/15/4313 |
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| author | Riccardo Bariani Ilaria Rigato Marco Cason Maria Bueno Marinas Rudy Celeghin Kalliopi Pilichou Barbara Bauce |
| author_facet | Riccardo Bariani Ilaria Rigato Marco Cason Maria Bueno Marinas Rudy Celeghin Kalliopi Pilichou Barbara Bauce |
| author_sort | Riccardo Bariani |
| collection | DOAJ |
| description | In recent years a phenotypic variant of Arrhythmogenic cardiomyopathy has been described, characterized by predominant left ventricular (LV) involvement with no or minor right ventricular abnormalities, referred to as Arrhythmogenic left ventricular cardiomyopathy (ALVC). Different disease-genes have been identified in this form, such as Desmoplakin (DSP), Filamin C (FLNC), Phospholamban (PLN) and Desmin (DES). The main purpose of this critical systematic review was to assess the level of knowledge on genetic background and clinical features of ALVC. A search (updated to April 2022) was run in the PubMed, Scopus, and Web of Science electronic databases. The search terms used were “arrhythmogenic left ventricular cardiomyopathy” OR “arrhythmogenic cardiomyopathy” and “gene” OR “arrhythmogenic dysplasia” and “gene”. The most represented disease-gene turned out to be DSP, accounting for half of published cases, followed by FLNC. Overall, ECG abnormalities were reported in 58% of patients. Major ventricular arrhythmias were recorded in 26% of cases; an ICD was implanted in 29% of patients. A total of 6% of patients showed heart failure symptoms, and 15% had myocarditis-like episodes. DSP is confirmed to be the most represented disease-gene in ALVC patients. An analysis of reported clinical features of ALVC patients show an important degree of electrical instability, which frequently required an ICD implant. Moreover, myocarditis-like episodes are common. |
| first_indexed | 2024-03-09T10:07:04Z |
| format | Article |
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| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-09T10:07:04Z |
| publishDate | 2022-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-0dc620e79bdf4f0580434f97fb5ab0c82023-12-01T22:59:13ZengMDPI AGJournal of Clinical Medicine2077-03832022-07-011115431310.3390/jcm11154313Genetic Background and Clinical Features in Arrhythmogenic Left Ventricular Cardiomyopathy: A Systematic ReviewRiccardo Bariani0Ilaria Rigato1Marco Cason2Maria Bueno Marinas3Rudy Celeghin4Kalliopi Pilichou5Barbara Bauce6Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, 35128 Padua, ItalyAzienda Ospedaliera/Universita’ di Padova, 35128 Padova, ItalyDepartment of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, 35128 Padua, ItalyDepartment of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, 35128 Padua, ItalyDepartment of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, 35128 Padua, ItalyDepartment of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, 35128 Padua, ItalyDepartment of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, 35128 Padua, ItalyIn recent years a phenotypic variant of Arrhythmogenic cardiomyopathy has been described, characterized by predominant left ventricular (LV) involvement with no or minor right ventricular abnormalities, referred to as Arrhythmogenic left ventricular cardiomyopathy (ALVC). Different disease-genes have been identified in this form, such as Desmoplakin (DSP), Filamin C (FLNC), Phospholamban (PLN) and Desmin (DES). The main purpose of this critical systematic review was to assess the level of knowledge on genetic background and clinical features of ALVC. A search (updated to April 2022) was run in the PubMed, Scopus, and Web of Science electronic databases. The search terms used were “arrhythmogenic left ventricular cardiomyopathy” OR “arrhythmogenic cardiomyopathy” and “gene” OR “arrhythmogenic dysplasia” and “gene”. The most represented disease-gene turned out to be DSP, accounting for half of published cases, followed by FLNC. Overall, ECG abnormalities were reported in 58% of patients. Major ventricular arrhythmias were recorded in 26% of cases; an ICD was implanted in 29% of patients. A total of 6% of patients showed heart failure symptoms, and 15% had myocarditis-like episodes. DSP is confirmed to be the most represented disease-gene in ALVC patients. An analysis of reported clinical features of ALVC patients show an important degree of electrical instability, which frequently required an ICD implant. Moreover, myocarditis-like episodes are common.https://www.mdpi.com/2077-0383/11/15/4313arrhythmogenic left ventricular cardiomyopathyDesmoplakinFilamin-CDesminPhospholamban |
| spellingShingle | Riccardo Bariani Ilaria Rigato Marco Cason Maria Bueno Marinas Rudy Celeghin Kalliopi Pilichou Barbara Bauce Genetic Background and Clinical Features in Arrhythmogenic Left Ventricular Cardiomyopathy: A Systematic Review Journal of Clinical Medicine arrhythmogenic left ventricular cardiomyopathy Desmoplakin Filamin-C Desmin Phospholamban |
| title | Genetic Background and Clinical Features in Arrhythmogenic Left Ventricular Cardiomyopathy: A Systematic Review |
| title_full | Genetic Background and Clinical Features in Arrhythmogenic Left Ventricular Cardiomyopathy: A Systematic Review |
| title_fullStr | Genetic Background and Clinical Features in Arrhythmogenic Left Ventricular Cardiomyopathy: A Systematic Review |
| title_full_unstemmed | Genetic Background and Clinical Features in Arrhythmogenic Left Ventricular Cardiomyopathy: A Systematic Review |
| title_short | Genetic Background and Clinical Features in Arrhythmogenic Left Ventricular Cardiomyopathy: A Systematic Review |
| title_sort | genetic background and clinical features in arrhythmogenic left ventricular cardiomyopathy a systematic review |
| topic | arrhythmogenic left ventricular cardiomyopathy Desmoplakin Filamin-C Desmin Phospholamban |
| url | https://www.mdpi.com/2077-0383/11/15/4313 |
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