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Bases moleculares das Cardiomiopatias Metabólicas: Revisão Sistemática
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As cardiomiopatias de origem metabólica constituem um grupo heterogéneo de doenças raras, geralmente de manifestação precoce e associadas a uma carga significativa de
morbilidade e mortalidade. A complexidade clínica destas entidades decorre não apenas da diversidade de vias metabólicas envolvidas, mas também da multiplicidade de genes implicados, o que transforma o diagnóstico atempado e preciso num desafio relevante para a prática clínica. A presente revisão sistemática teve como propósito reunir e analisar, de forma crítica e abrangente, a evidência científica atualmente disponível sobre os genes associados às diversas formas de cardiomiopatia metabólica, descrevendo as vias metabólicas implicadas, as patologias correspondentes e os fenótipos cardíacos mais frequentemente relatados. Para tal, foi conduzida uma análise integrada de estudos originais, culminando na construção de uma tabela de síntese que organiza, de forma estruturada e comparativa, a informação genética e clínica mais relevante. Os resultados obtidos evidenciam a existência centenas de genes cuja alteração pode resultar no desenvolvimento de cardiomiopatia metabólica, abrangendo fenótipos que incluem formas hipertróficas, dilatadas, restritivas, não compactadas e ainda casos não especificados. A sistematização desta informação permite uma leitura transversal e pragmática da relação gene–via metabólica–doença–fenótipo cardíaco, configurando-se como um recurso valioso para clínicos, geneticistas e investigadores.
Metabolic cardiomyopathies constitute a heterogeneous group of rare disorders, typically presenting at an early age and associated with a considerable burden of morbidity and mortality. The clinical complexity of these conditions arises not only from the diversity of metabolic pathways involved but also from the multiplicity of implicated genes, making timely and accurate diagnosis a major challenge in clinical practice. The present systematic review aimed to gather and critically analyze the current scientific evidence regarding genes associated with the various forms of metabolic cardiomyopathy, describing the implicated metabolic pathways, the corresponding disorders, and the most frequently reported cardiac phenotypes. To achieve this, an integrated analysis of original studies was conducted, culminating in the construction of a synthesis table that organizes, in a structured and comparative manner, the most relevant genetic and clinical information. The findings highlight the existence of hundreds of genes whose alteration may lead to the development of metabolic cardiomyopathy, encompassing phenotypes that include hypertrophic, dilated, restrictive, non-compaction forms, as well as unspecified cases. The systematization of this information provides a transversal and pragmatic perspective on the gene–metabolic pathway–disease–cardiac phenotype relationship, establishing a valuable resource for clinicians, geneticists, and researchers.
Metabolic cardiomyopathies constitute a heterogeneous group of rare disorders, typically presenting at an early age and associated with a considerable burden of morbidity and mortality. The clinical complexity of these conditions arises not only from the diversity of metabolic pathways involved but also from the multiplicity of implicated genes, making timely and accurate diagnosis a major challenge in clinical practice. The present systematic review aimed to gather and critically analyze the current scientific evidence regarding genes associated with the various forms of metabolic cardiomyopathy, describing the implicated metabolic pathways, the corresponding disorders, and the most frequently reported cardiac phenotypes. To achieve this, an integrated analysis of original studies was conducted, culminating in the construction of a synthesis table that organizes, in a structured and comparative manner, the most relevant genetic and clinical information. The findings highlight the existence of hundreds of genes whose alteration may lead to the development of metabolic cardiomyopathy, encompassing phenotypes that include hypertrophic, dilated, restrictive, non-compaction forms, as well as unspecified cases. The systematization of this information provides a transversal and pragmatic perspective on the gene–metabolic pathway–disease–cardiac phenotype relationship, establishing a valuable resource for clinicians, geneticists, and researchers.
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Palavras-chave
Cardiomiopatia metabólica Erros inatos do metabolismo Genética molecular Diagnóstico diferencial Vias metabólicas