Isabel Cardoso , Mafalda Melo , Pedro Brás , José Miguel Viegas , Inês Almeida , Sofia Nunes , Inês Custódio , Conceição Trigo , Sérgio Laranjo , Rafael Graça , Rui Cruz Ferreira , Mário Oliveira , Sílvia Aguiar Rosa , Diana Antunes
{"title":"The contribution of genetics to the understanding and management of cardiomyopathies: Part 2","authors":"Isabel Cardoso , Mafalda Melo , Pedro Brás , José Miguel Viegas , Inês Almeida , Sofia Nunes , Inês Custódio , Conceição Trigo , Sérgio Laranjo , Rafael Graça , Rui Cruz Ferreira , Mário Oliveira , Sílvia Aguiar Rosa , Diana Antunes","doi":"10.1016/j.repc.2024.11.016","DOIUrl":null,"url":null,"abstract":"<div><div>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 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, enabling cost-effective, high-throughput analyses, facilitating the diagnosis of these rare conditions, and allowing the provision of specific management and therapeutics.</div></div>","PeriodicalId":48985,"journal":{"name":"Revista Portuguesa De Cardiologia","volume":"44 5","pages":"Pages 321-329"},"PeriodicalIF":1.6000,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Revista Portuguesa De Cardiologia","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0870255125000964","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}
引用次数: 0
Abstract
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 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, enabling cost-effective, high-throughput analyses, facilitating the diagnosis of these rare conditions, and allowing the provision of specific management and therapeutics.
期刊介绍：
The Portuguese Journal of Cardiology, the official journal of the Portuguese Society of Cardiology, was founded in 1982 with the aim of keeping Portuguese cardiologists informed through the publication of scientific articles on areas such as arrhythmology and electrophysiology, cardiovascular surgery, intensive care, coronary artery disease, cardiovascular imaging, hypertension, heart failure and cardiovascular prevention. The Journal is a monthly publication with high standards of quality in terms of scientific content and production. Since 1999 it has been published in English as well as Portuguese, which has widened its readership abroad. It is distributed to all members of the Portuguese Societies of Cardiology, Internal Medicine, Pneumology and Cardiothoracic Surgery, as well as to leading non-Portuguese cardiologists and to virtually all cardiology societies worldwide. It has been referred in Medline since 1987.
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