The contribution of genetics to the understanding and management of cardiomyopathies: Part 1

Résumé fourni par la source

How the phenotype can offer insights into the genotype and the crucial role of genotype identification in medical management. CMR: cardiac magnetic resonance; DSP: desmoplakin; ECG: electrocardiogram; EPS: electrophysiologic study; FLNC: filamin C; HCM: hypertrophic cardiomyopathy; ICD: implantable cardioverter defibrillator; LGE: late gadolinium enhancement; LMNA: lamin A/C; LVEF: left ventricular ejection fraction; OMT: optimal medical treatment; PLN: phospolamban; PMD: permanent pacemaker; PRKAG2: protein kinase AMP-activated non-catalytic subunit gamma 2; SCD: sudden cardiac death; SVT: supraventricular tachycardia; TTN: titin; VF: ventricular fibrillation. 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. A genética assumiu um papel fundamental na clarificação da fisiopatologia das miocardiopatias, facilitando o diagnóstico molecular e possibilitando o rastreio familiar eficaz. O desenvolvimento da sequenciação de nova geração revolucionou os testes genéticos, permitindo análises de alto rendimento a custos acessíveis. Atualmente, a incorporação dos testes genéticos no processo de tomada de decisões clínicas é essencial. Embora nem sempre exista uma correlação genótipo-fenótipo reproduzível, diversos genótipos surgiram como preditores de risco para a gravidade e progressão da doença. As guidelines europeias advogam o uso de testes genético nas suas recomendações, demonstrando notáveis vantagens na previsão de outcomes clínicos. Embora sejam necessárias mais estudos para preencher as lacunas na compreensão da genética associada às miocardiopatias, o potencial para avanços é vasto.

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