{"title":"致心律失常性右心室心肌病(ARVC):从影像学到遗传学的诊断挑战。","authors":"Mihnea Casian, Michael Papadakis, Ruxandra Jurcut","doi":"10.33963/v.phj.102391","DOIUrl":null,"url":null,"abstract":"<p><p>Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a hereditary cardiomyopathy, predominantly affecting young males, regardless of ethnicity or race. Due to its variable penetrance, females usually have milder and less malignant phenotypes and it may be diagnosed in older individuals. Accordingly, some affected individuals may remain asymptomatic, while in others sudden cardiac death represents the inaugural symptom. Exercise-related palpitations and syncope are red-flag symptoms in otherwise healthy adolescents and young adults and should be fully investigated, considering ARVC as a potential diagnosis. Clinicians should adopt a cardiomyopathy-oriented mindset which is focused on recognizing suspicious electrocardiogram, structural abnormalities and family history of sudden cardiac death. Complete baseline-investigations should be performed in all individuals in whom ARVC is suspected, regardless of their symptoms. These include multi-modality imaging (echocardiogram, cardiac magnetic resonance imaging), electrocardiogram monitors and maximal exercise tolerance tests. Genetic testing should be regarded as the final piece of the puzzle and offered in individuals with a high pre-test probability. A clinically actionable result allows for predictive family testing and pre-implantation diagnosis. Importantly, it should be offered only with appropriate pre and post-test counselling. Both clinicians and patients should understand that not identifying a disease-causing variant does not exclude ARVC. Finally, three clinical cases illustrating the potential caveats in diagnosing ARVC are discussed.</p>","PeriodicalId":17784,"journal":{"name":"Kardiologia polska","volume":" ","pages":""},"PeriodicalIF":3.7000,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Arrhythmogenic right ventricular cardiomyopathies (ARVC): Diagnostic challenges from imaging to genetics.\",\"authors\":\"Mihnea Casian, Michael Papadakis, Ruxandra Jurcut\",\"doi\":\"10.33963/v.phj.102391\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a hereditary cardiomyopathy, predominantly affecting young males, regardless of ethnicity or race. Due to its variable penetrance, females usually have milder and less malignant phenotypes and it may be diagnosed in older individuals. Accordingly, some affected individuals may remain asymptomatic, while in others sudden cardiac death represents the inaugural symptom. Exercise-related palpitations and syncope are red-flag symptoms in otherwise healthy adolescents and young adults and should be fully investigated, considering ARVC as a potential diagnosis. Clinicians should adopt a cardiomyopathy-oriented mindset which is focused on recognizing suspicious electrocardiogram, structural abnormalities and family history of sudden cardiac death. Complete baseline-investigations should be performed in all individuals in whom ARVC is suspected, regardless of their symptoms. These include multi-modality imaging (echocardiogram, cardiac magnetic resonance imaging), electrocardiogram monitors and maximal exercise tolerance tests. Genetic testing should be regarded as the final piece of the puzzle and offered in individuals with a high pre-test probability. A clinically actionable result allows for predictive family testing and pre-implantation diagnosis. Importantly, it should be offered only with appropriate pre and post-test counselling. Both clinicians and patients should understand that not identifying a disease-causing variant does not exclude ARVC. Finally, three clinical cases illustrating the potential caveats in diagnosing ARVC are discussed.</p>\",\"PeriodicalId\":17784,\"journal\":{\"name\":\"Kardiologia polska\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":3.7000,\"publicationDate\":\"2024-09-06\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Kardiologia polska\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.33963/v.phj.102391\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"CARDIAC & CARDIOVASCULAR SYSTEMS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Kardiologia polska","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.33963/v.phj.102391","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}
Arrhythmogenic right ventricular cardiomyopathies (ARVC): Diagnostic challenges from imaging to genetics.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a hereditary cardiomyopathy, predominantly affecting young males, regardless of ethnicity or race. Due to its variable penetrance, females usually have milder and less malignant phenotypes and it may be diagnosed in older individuals. Accordingly, some affected individuals may remain asymptomatic, while in others sudden cardiac death represents the inaugural symptom. Exercise-related palpitations and syncope are red-flag symptoms in otherwise healthy adolescents and young adults and should be fully investigated, considering ARVC as a potential diagnosis. Clinicians should adopt a cardiomyopathy-oriented mindset which is focused on recognizing suspicious electrocardiogram, structural abnormalities and family history of sudden cardiac death. Complete baseline-investigations should be performed in all individuals in whom ARVC is suspected, regardless of their symptoms. These include multi-modality imaging (echocardiogram, cardiac magnetic resonance imaging), electrocardiogram monitors and maximal exercise tolerance tests. Genetic testing should be regarded as the final piece of the puzzle and offered in individuals with a high pre-test probability. A clinically actionable result allows for predictive family testing and pre-implantation diagnosis. Importantly, it should be offered only with appropriate pre and post-test counselling. Both clinicians and patients should understand that not identifying a disease-causing variant does not exclude ARVC. Finally, three clinical cases illustrating the potential caveats in diagnosing ARVC are discussed.
期刊介绍:
Kardiologia Polska (Kardiol Pol, Polish Heart Journal) is the official peer-reviewed journal of the Polish Cardiac Society (PTK, Polskie Towarzystwo Kardiologiczne) published monthly since 1957. It aims to provide a platform for sharing knowledge in cardiology, from basic science to translational and clinical research on cardiovascular diseases.