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Abstract(s)
A amiloidose representa um grupo de doenças que se caraterizam pela deposição
extracelular de fibrilhas proteicas insolúveis devido a alterações no seu desdobramento -
proteína amiloide - podendo ser sistémicas ou localizadas. O envolvimento cardíaco neste
grupo de doenças dá-se especialmente em três tipos: na amiloidose AL, na amiloidose do
tipo ATTRh e na amiloidose do tipo ATTRwt, antigamente denominada de amiloidose
sistémica senil.
A deposição da proteína amiloide no coração é responsável por uma miocardiopatia de
padrão restritivo que habitualmente cursa com sintomas de insuficiência cardíaca e que,
não infrequentemente, pode ser confundida ou coexistir com outras patologias (por
exemplo, estenose aórtica, cardiopatia hipertensiva), levando a um subdiagnóstico desta
entidade.
Com o aparecimento de novas terapêuticas para tipos específicos de amiloidose, torna-se
de extrema importância um diagnóstico precoce, de forma a poder tratar da forma mais
dirigida possível estes doentes. Com este trabalho pretende-se fazer uma revisão da
literatura existente, abordando a fisiopatologia dos principais tipos de amiloidose que
afetam o coração, o diagnóstico e as estratégias terapêuticas atualmente existentes.
Amyloidosis represents a range of diseases that are characterized by the extracelular deposition of insoluble amyloid fibrils due to their misfolding, called amyloid, and can be systemic or localized. The cardiac involvement is due to 3 main causes: AL amyloidosis, hATTR amyloidosis and wtATTR, formerly known as senile systemic amyloidosis. The deposition of amyloid in the heart is responsible for a restrictive cardiomyopathy, usually characterized by heart failure symptoms that not infrequently can be mistaken or coexist with other diseases (such as aortic stenosis or hypertensive heart disease), making it an underdiagnosed entity. With the development of new therapies specific for the amyloid type, an early diagnosis is extremely important in order to treat patients in the most appropriate way. In this dissertation I will do a literature review adressing the physiopathology of the main types of cardiac amyloidosis, their diagnosis and the treatment currently available.
Amyloidosis represents a range of diseases that are characterized by the extracelular deposition of insoluble amyloid fibrils due to their misfolding, called amyloid, and can be systemic or localized. The cardiac involvement is due to 3 main causes: AL amyloidosis, hATTR amyloidosis and wtATTR, formerly known as senile systemic amyloidosis. The deposition of amyloid in the heart is responsible for a restrictive cardiomyopathy, usually characterized by heart failure symptoms that not infrequently can be mistaken or coexist with other diseases (such as aortic stenosis or hypertensive heart disease), making it an underdiagnosed entity. With the development of new therapies specific for the amyloid type, an early diagnosis is extremely important in order to treat patients in the most appropriate way. In this dissertation I will do a literature review adressing the physiopathology of the main types of cardiac amyloidosis, their diagnosis and the treatment currently available.
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Keywords
Amiloidose Cardíaca Diagnóstico Etiologia Miocardiopatias Tratamento