Recurrent acute myocarditis: An under-recognized clinical entity associated with the later diagnosis of a genetic arrhythmogenic cardiomyopathy
BackgroundMyocardial inflammation has been consistently associated with genetic arrhythmogenic cardiomyopathy (ACM) and it has been hypothesized that episodes mimicking acute myocarditis (AM) could represent early inflammatory phases of the disease.ObjectiveWe evaluated the temporal association betw...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-10-01
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| Series: | Frontiers in Cardiovascular Medicine |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fcvm.2022.998883/full |
| _version_ | 1811335912482668544 |
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| author | Pierre Ollitrault Mayane Al Khoury Yann Troadec Yoann Calcagno Laure Champ-Rigot Virginie Ferchaud Arnaud Pellissier Damien Legallois Paul Milliez Fabien Labombarda |
| author_facet | Pierre Ollitrault Mayane Al Khoury Yann Troadec Yoann Calcagno Laure Champ-Rigot Virginie Ferchaud Arnaud Pellissier Damien Legallois Paul Milliez Fabien Labombarda |
| author_sort | Pierre Ollitrault |
| collection | DOAJ |
| description | BackgroundMyocardial inflammation has been consistently associated with genetic arrhythmogenic cardiomyopathy (ACM) and it has been hypothesized that episodes mimicking acute myocarditis (AM) could represent early inflammatory phases of the disease.ObjectiveWe evaluated the temporal association between recurrent acute myocarditis (RAM) episodes and the later diagnosis of a genetic ACM.Materials and methodsBetween January 2012 and December 2021, patients with RAM and no previous cardiomyopathy were included (Recurrent Acute Myocarditis Registry, NCT04589156). A follow-up visit including clinical evaluation, resting and stress electrocardiogram, cardiac magnetic resonance imaging, and genetic testing was carried out. Endpoints of the study was the incidence of both ACM diagnosis criteria and ACM genetic mutation at the end of follow-up.ResultsTwenty-one patients with RAM were included and follow-up was completed in 19/21 patients (90%). At the end of follow-up, 3.3 ± 2.9 years after the last AM episode, 14/21 (67%) patients with an ACM phenotype (biventricular: 10/14, 71%; left ventricular: 4/14, 29%) underwent genetic testing. A pathogenic or likely pathogenic mutation was found in 8/14 patients (57%), 5/8 in the Desmoplakin gene, 2/8 in the Plakophillin-2 gene, and 1/8 in the Titin gene. Family history of cardiomyopathy or early sudden cardiac death had a positive predictive value of 88% for the presence of an underlying genetic mutation in patients with RAM.ConclusionRAM is a rare entity associated with the latter diagnosis of an ACM genetic mutation in more than a third of the cases. In those patients, RAM episodes represent early inflammatory phases of the disease. Including RAM episodes in ACM diagnosis criteria might allow early diagnosis and potential therapeutic interventions. |
| first_indexed | 2024-04-13T17:31:39Z |
| format | Article |
| id | doaj.art-9cdb588cbb37465a959ed2ed880e2006 |
| institution | Directory Open Access Journal |
| issn | 2297-055X |
| language | English |
| last_indexed | 2024-04-13T17:31:39Z |
| publishDate | 2022-10-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Cardiovascular Medicine |
| spelling | doaj.art-9cdb588cbb37465a959ed2ed880e20062022-12-22T02:37:33ZengFrontiers Media S.A.Frontiers in Cardiovascular Medicine2297-055X2022-10-01910.3389/fcvm.2022.998883998883Recurrent acute myocarditis: An under-recognized clinical entity associated with the later diagnosis of a genetic arrhythmogenic cardiomyopathyPierre Ollitrault0Mayane Al Khoury1Yann Troadec2Yoann Calcagno3Laure Champ-Rigot4Virginie Ferchaud5Arnaud Pellissier6Damien Legallois7Paul Milliez8Fabien Labombarda9Department of Cardiology, Caen University Hospital, Caen-Normandy University, Caen, FranceDepartment of Cardiology, Caen University Hospital, Caen-Normandy University, Caen, FranceDepartment of Genetics, Caen University Hospital, Caen-Normandy University, Caen, FranceDepartment of Cardiology, Caen University Hospital, Caen-Normandy University, Caen, FranceDepartment of Cardiology, Caen University Hospital, Caen-Normandy University, Caen, FranceDepartment of Cardiology, Caen University Hospital, Caen-Normandy University, Caen, FranceDepartment of Cardiology, Caen University Hospital, Caen-Normandy University, Caen, FranceDepartment of Cardiology, Caen University Hospital, Caen-Normandy University, Caen, FranceDepartment of Cardiology, Caen University Hospital, Caen-Normandy University, Caen, FranceDepartment of Cardiology, Caen University Hospital, Caen-Normandy University, Caen, FranceBackgroundMyocardial inflammation has been consistently associated with genetic arrhythmogenic cardiomyopathy (ACM) and it has been hypothesized that episodes mimicking acute myocarditis (AM) could represent early inflammatory phases of the disease.ObjectiveWe evaluated the temporal association between recurrent acute myocarditis (RAM) episodes and the later diagnosis of a genetic ACM.Materials and methodsBetween January 2012 and December 2021, patients with RAM and no previous cardiomyopathy were included (Recurrent Acute Myocarditis Registry, NCT04589156). A follow-up visit including clinical evaluation, resting and stress electrocardiogram, cardiac magnetic resonance imaging, and genetic testing was carried out. Endpoints of the study was the incidence of both ACM diagnosis criteria and ACM genetic mutation at the end of follow-up.ResultsTwenty-one patients with RAM were included and follow-up was completed in 19/21 patients (90%). At the end of follow-up, 3.3 ± 2.9 years after the last AM episode, 14/21 (67%) patients with an ACM phenotype (biventricular: 10/14, 71%; left ventricular: 4/14, 29%) underwent genetic testing. A pathogenic or likely pathogenic mutation was found in 8/14 patients (57%), 5/8 in the Desmoplakin gene, 2/8 in the Plakophillin-2 gene, and 1/8 in the Titin gene. Family history of cardiomyopathy or early sudden cardiac death had a positive predictive value of 88% for the presence of an underlying genetic mutation in patients with RAM.ConclusionRAM is a rare entity associated with the latter diagnosis of an ACM genetic mutation in more than a third of the cases. In those patients, RAM episodes represent early inflammatory phases of the disease. Including RAM episodes in ACM diagnosis criteria might allow early diagnosis and potential therapeutic interventions.https://www.frontiersin.org/articles/10.3389/fcvm.2022.998883/fullrecurrent acute myocarditisarrhythmogenic cardiomyopathymyocardial inflammationventricular arrhythmiasudden cardiac death |
| spellingShingle | Pierre Ollitrault Mayane Al Khoury Yann Troadec Yoann Calcagno Laure Champ-Rigot Virginie Ferchaud Arnaud Pellissier Damien Legallois Paul Milliez Fabien Labombarda Recurrent acute myocarditis: An under-recognized clinical entity associated with the later diagnosis of a genetic arrhythmogenic cardiomyopathy Frontiers in Cardiovascular Medicine recurrent acute myocarditis arrhythmogenic cardiomyopathy myocardial inflammation ventricular arrhythmia sudden cardiac death |
| title | Recurrent acute myocarditis: An under-recognized clinical entity associated with the later diagnosis of a genetic arrhythmogenic cardiomyopathy |
| title_full | Recurrent acute myocarditis: An under-recognized clinical entity associated with the later diagnosis of a genetic arrhythmogenic cardiomyopathy |
| title_fullStr | Recurrent acute myocarditis: An under-recognized clinical entity associated with the later diagnosis of a genetic arrhythmogenic cardiomyopathy |
| title_full_unstemmed | Recurrent acute myocarditis: An under-recognized clinical entity associated with the later diagnosis of a genetic arrhythmogenic cardiomyopathy |
| title_short | Recurrent acute myocarditis: An under-recognized clinical entity associated with the later diagnosis of a genetic arrhythmogenic cardiomyopathy |
| title_sort | recurrent acute myocarditis an under recognized clinical entity associated with the later diagnosis of a genetic arrhythmogenic cardiomyopathy |
| topic | recurrent acute myocarditis arrhythmogenic cardiomyopathy myocardial inflammation ventricular arrhythmia sudden cardiac death |
| url | https://www.frontiersin.org/articles/10.3389/fcvm.2022.998883/full |
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