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Advisor(s)
Abstract(s)
Introdução:
As miopatias são caracterizadas por uma alteração na estrutura ou função do tecido muscular
e estão associadas à degeneração de fibras, fibrose e infiltração de tecido adiposo no músculo
estriado esquelético e cardíaco, provocando o surgimento de alterações musculoesqueléticas
e cardíacas no seu quadro clínico. O fenótipo cardíaco apresenta uma elevada prevalência e
morbimortalidade nas miopatias e é cada vez mais determinante para o seu prognóstico, no
entanto os médicos ainda pouco sabem relativamente à sua clínica, diagnóstico e vigilância.
Objetivos e Metodologia:
O presente trabalho visa conter uma visão atual relativamente às características, diagnóstico
e monitorização das alterações cardíacas nas miopatias, particularizando as distrofinopatias e
distrofias miotónicas. Para tal, procedeu-se a uma revisão da literatura com recurso às bases
de dados PubMed/Medline, GoogleScholar e UpToDate.
Desenvolvimento:
O envolvimento cardíaco nas miopatias apresenta uma marcada heterogeneidade, variando de
alterações ligeiras subclínicas até à morte precoce por bloqueio auriculoventricular completo
ou taquiarritmias ventriculares. As principais manifestações são a miocardiopatia e arritmias,
ainda que também sejam detetadas valvulopatias, doença arterial coronária, ectasia da raiz
da aorta e derrame pericárdico. As distrofinopatias são o exemplo paradigmático de miopatias
com um predomínio de fibrose no miocárdio, cardiomiopatia e também insuficiência cardíaca.
Por outro lado, as distrofias miotónicas representam um exemplo de miopatias com a fibrose
sobretudo no sistema de condução, arritmias e um elevado risco de morte cardíaca súbita. As
alterações devem ser vigiadas com regularidade, logo a partir do diagnóstico neuromuscular,
através da realização da história pessoal e familiar, do exame objetivo, eletrocardiograma,
Holter e de um exame de imagem. O tratamento segue essencialmente as recomendações da
população sem doença neuromuscular, existindo, todavia, um menor limiar para implantar um
dispositivo eletrónico cardíaco nas miopatias com risco arritmogénico aumentado.
Conclusão:
Nos últimos anos, tem-se verificado um aumento contínuo na esperança de vida nos indivíduos
com miopatia, contudo o fenótipo cardíaco constitui um importante obstáculo para melhorias
adicionais no seu prognóstico. Por conseguinte, é fundamental prosseguir a investigação nesta
área, com vista a uma melhor compreensão dos mecanismos fisiopatológicos subjacentes, o
que se traduzirá numa otimização das recomendações clínicas no que concerne ao diagnóstico
e terapêutica do envolvimento cardíaco das miopatias.
Introduction: Myopathies are characterized by a change in the structure or function of muscle tissue and are associated with degeneration of fibers, fibrosis, and infiltration of adipose tissue in the skeletal and cardiac striated muscle, causing musculoskeletal and cardiac diseases. Cardiac alterations have high prevalence, morbidity and mortality in myopathies and are increasingly determinant for their prognosis, however physicians still know little about their clinic, diagnosis, and surveillance. Objectives and Methodology: This work aims to present a current view regarding the characteristics, diagnosis, and the monitoring of cardiac changes in myopathies, particularly in dystrophinopathies and myotonic dystrophies. Hence, a literature review was carried out, using the PubMed/Medline, GoogleScholar and UpToDate databases. Development: Cardiac involvement in myopathies presents marked heterogeneity, ranging from mild subclinical changes to early death from complete atrioventricular block or ventricular tachyarrhythmias. Their main manifestations are cardiomyopathies and arrhythmias, although valvulopathies, coronary artery disease, dilation of the aortic root and pericardial effusion are also detected. Dystrophinopathies are a paradigmatic example of the group of myopathies with a predominance of fibrosis in the myocardium, cardiomyopathy, and heart failure. On the other hand, myotonic dystrophies represent an example of myopathies with fibrosis, mainly in the conduction system, arrhythmias, and high risk of sudden cardiac death. These changes should be monitored regularly, immediately after the neuromuscular diagnosis, through a personal and family history, physical examination, electrocardiogram, Holter, and an imaging test. The treatment essentially follows the recommendations for the population without a neuromuscular disease, however, there is a lower threshold for implanting an electronic cardiac device in myopathies with increased arrhythmogenic risk. Conclusion: In recent years, there has been a continuous increase in life expectancy in individuals with myopathy, but the cardiac phenotype is an important obstacle to further improvements in their prognosis. Therefore, it is essential to continue the research in this area, aiming at a better understanding of its underlying pathophysiological mechanisms, which will result in an optimization of clinical recommendations regarding the diagnosis and treatment of cardiac involvement of myopathies.
Introduction: Myopathies are characterized by a change in the structure or function of muscle tissue and are associated with degeneration of fibers, fibrosis, and infiltration of adipose tissue in the skeletal and cardiac striated muscle, causing musculoskeletal and cardiac diseases. Cardiac alterations have high prevalence, morbidity and mortality in myopathies and are increasingly determinant for their prognosis, however physicians still know little about their clinic, diagnosis, and surveillance. Objectives and Methodology: This work aims to present a current view regarding the characteristics, diagnosis, and the monitoring of cardiac changes in myopathies, particularly in dystrophinopathies and myotonic dystrophies. Hence, a literature review was carried out, using the PubMed/Medline, GoogleScholar and UpToDate databases. Development: Cardiac involvement in myopathies presents marked heterogeneity, ranging from mild subclinical changes to early death from complete atrioventricular block or ventricular tachyarrhythmias. Their main manifestations are cardiomyopathies and arrhythmias, although valvulopathies, coronary artery disease, dilation of the aortic root and pericardial effusion are also detected. Dystrophinopathies are a paradigmatic example of the group of myopathies with a predominance of fibrosis in the myocardium, cardiomyopathy, and heart failure. On the other hand, myotonic dystrophies represent an example of myopathies with fibrosis, mainly in the conduction system, arrhythmias, and high risk of sudden cardiac death. These changes should be monitored regularly, immediately after the neuromuscular diagnosis, through a personal and family history, physical examination, electrocardiogram, Holter, and an imaging test. The treatment essentially follows the recommendations for the population without a neuromuscular disease, however, there is a lower threshold for implanting an electronic cardiac device in myopathies with increased arrhythmogenic risk. Conclusion: In recent years, there has been a continuous increase in life expectancy in individuals with myopathy, but the cardiac phenotype is an important obstacle to further improvements in their prognosis. Therefore, it is essential to continue the research in this area, aiming at a better understanding of its underlying pathophysiological mechanisms, which will result in an optimization of clinical recommendations regarding the diagnosis and treatment of cardiac involvement of myopathies.
Description
Keywords
Arritmia Distrofias Miotónicas Distrofinopatias Miocardiopatia Miopatia