The contribution of genetics to the understanding and management of cardiomyopathies

• Author(s): Cardoso, Isabel ; Nunes, Sofia ; Brás, Pedro ; Viegas, José Miguel ; Marques Antunes, Miguel ; Ferreira, André ; Almeida, Inês ; Custódio, Inês ; Trigo, Conceição ; Laranjo, Sérgio ; Graça, Rafael ; Cruz Ferreira, Rui ; Oliveira, Mário ; Aguiar Rosa, Sílvia ; Antunes, Diana
• Date: 2025
• Persistent ID: http://hdl.handle.net/10362/182062
• Origin: Repositório Institucional da UNL
• Subject(s): Cardiomyopathies; Genetics; Genotype; Next-generation sequencing; Cardiology and Cardiovascular Medicine
• Document Type: Review
• Language: English
• Contributor(s): NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM); Comprehensive Health Research Centre (CHRC) - pólo NMS; RUN

Description

Publisher 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 clinical decision-making. Although a definitive genotype-phenotype correlation may not always be evident, several genotypes have emerged as valuable risk predictors for disease severity and progression. European guidelines emphasize the importance of genetic tests for predicting clinical outcome in cardiomyopathies. While further research is essential to bridge existing gaps in the genetic evidence on cardiomyopathies, there is considerable potential for significant advancements.