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Update on arrythmogenic right ventricular cardiomyopathy
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A cardiomiopatia arritmogénica do ventrículo direito (ARVC) constitui uma doença hereditária do miocárdio caracterizada clinicamente por arritmia ventricular, insuficiência cardíaca, morte súbita cardíaca, assim como histologicamente por substituição progressiva do miocárdio ventricular direito por tecido fibroadiposo. A ARVC foi originalmente descrita como uma displasia devido à hipótese prevalente à altura de que esta patologia seria o resultado de um defeito durante o desenvolvimento embrionário do ventrículo direito. (1, 2) Atualmente, esta entidade clínica é reconhecida como uma cardiomiopatia, dada a substituição fibroadiposa gradual pós-natal intimamente relacionada com defeitos genéticos predominantemente associados aos desmossomas cardíacos. (3, 4) Recentemente, o termo cardiomiopatia arritmogénica tem sido usado para englobar o leque de variantes desta patologia em que o envolvimento do ventrículo esquerdo pode ser similar ou até mesmo maior do que as alterações verificadas no ventrículo direito. (5, 6) A prevalência estimada da ARVC varia entre 1 em 5000 até 1 em 1000 indivíduos em algumas regiões europeias. (7, 8) A ARVC é uma causa major de SCD em jovens e atletas, podendo esta ser a manifestação inicial da doença. (9, 10) Apesar da gravidade da ARVC, as abordagens terapêuticas modernas não impedem o seu desenvolvimento nem atrasam a progressão da doença, oferecendo unicamente medidas paliativas. (11) Este trabalho pretende rever o estado da arte relativo à ARVC, abordando esforços recentes para elucidar a sua patogénese, diagnóstico, tratamento e prevenção.
Arrythmogenic right ventricular cardiomyopathy (ARVC) is an inherited myocardial disease characterized clinically by ventricular arrhythmia, heart failure, sudden cardiac death (SCD), and histologically by progressive replacement of right ventricular muscle by fibrofatty tissue. ARVC was originally described as a dysplasia, as it was believed to be a developmental defect of the right ventricle. (1, 2) Currently, this clinical entity is recognized as a cardiomyopathy, as the adipose and fibrous replacement occurs gradually after birth, while being intimately related to genetic abnormalities mainly in cardiac desmosomes. (3, 4) Most recently, the term arryhtmogenic cardiomyopathy has also been used to broadly reflect variants of this condition where left ventricle involvement can be similar or even greater than right ventricular changes. (5, 6) ARVC’s estimated prevalence ranges from 1 in 5000 to 1 in 1000 individuals in some European regions. (7, 8) ARVC is a major cause of SCD in young people and athletes, and this fatal event may be the first manifestation of the disease. (9, 10) Despite ARVC’s severity, modern therapeutic approaches fail to prevent its development or to halt its progression, offering solely palliative measures. (11) This article aims to review the state of the art in arrythmogenic right ventricular cardiomyopathy, encompassing recent efforts to further our knowledge of its pathogenesis, diagnosis, treatment and prevention.
Arrythmogenic right ventricular cardiomyopathy (ARVC) is an inherited myocardial disease characterized clinically by ventricular arrhythmia, heart failure, sudden cardiac death (SCD), and histologically by progressive replacement of right ventricular muscle by fibrofatty tissue. ARVC was originally described as a dysplasia, as it was believed to be a developmental defect of the right ventricle. (1, 2) Currently, this clinical entity is recognized as a cardiomyopathy, as the adipose and fibrous replacement occurs gradually after birth, while being intimately related to genetic abnormalities mainly in cardiac desmosomes. (3, 4) Most recently, the term arryhtmogenic cardiomyopathy has also been used to broadly reflect variants of this condition where left ventricle involvement can be similar or even greater than right ventricular changes. (5, 6) ARVC’s estimated prevalence ranges from 1 in 5000 to 1 in 1000 individuals in some European regions. (7, 8) ARVC is a major cause of SCD in young people and athletes, and this fatal event may be the first manifestation of the disease. (9, 10) Despite ARVC’s severity, modern therapeutic approaches fail to prevent its development or to halt its progression, offering solely palliative measures. (11) This article aims to review the state of the art in arrythmogenic right ventricular cardiomyopathy, encompassing recent efforts to further our knowledge of its pathogenesis, diagnosis, treatment and prevention.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2018
Palavras-chave
Cardiomiopatia arritmogénica do ventrículo direito Cardiologia