2 documents found, page 1 of 1
The contribution of genetics to the understanding and management of cardiomyopa...
Cardoso, Isabel; Melo, Mafalda; Brás, Pedro; Viegas, José Miguel; Almeida, Inês; Nunes, Sofia; Custódio, Inês; Trigo, Conceição; Laranjo, SergioPublisher Copyright: © 2025 Sociedade Portuguesa de Cardiologia; Cardiomyopathies may present as a manifestation of various inherited syndromes. Recognizing the rarity and diagnostic challenges of syndromic and metabolic cardiomyopathies is crucial, as their identification holds significant implications for targeted treatment and enables the use of specific risk stratification tools. Genetics has assumed a pivo...
The contribution of genetics to the understanding and management of cardiomyopa...
Cardoso, Isabel; Nunes, Sofia; Brás, Pedro; Viegas, José Miguel; Marques Antunes, Miguel; Ferreira, André; Almeida, Inês; Custódio, InêsPublisher Copyright: © 2025; Genetics has assumed a pivotal role in clarifying the pathophysiology of cardiomyopathies, facilitating molecular diagnosis, and enabling effective family screening. The advent of next-generation sequencing has revolutionized genetic testing by enabling cost-effective, high-throughput analysis. It is imperative for cardiovascular physicians to mainstream genetic testing into their c...