Applications of genetic testing in cardiovascular disease.

IF 1.9 4区医学 Q3 CARDIAC & CARDIOVASCULAR SYSTEMS

Current Opinion in Cardiology Pub Date : 2026-05-01 Epub Date: 2026-02-23 DOI:10.1097/HCO.0000000000001281

Alexandra Smirnova, Mario Urtis, Eloisa Arbustini

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引用次数: 0

Abstract

Purpose of review: The identification of the genetic basis of an increasing number of cardiovascular diseases (CVDs) has substantially expanded the clinical demand for genetic testing. This review summarizes the major groups of genetic CVDs, the current testing strategies, the limitations of available approaches, and future perspectives for improving diagnostic accuracy.

Recent findings: Growing awareness of genetic CVD has stimulated comprehensive clinical phenotyping, family screening, and the integration of advanced imaging, functional studies, and pathological investigations. This has enabled an unprecedented incorporation of genetics into clinical cardiology, representing one of the most transformative developments in the field. This evolution is occurring within multidisciplinary frameworks, generating a high demand for expertise and technological innovation.

Summary: Mendelian CVDs include cardiomyopathies, arrhythmias, arteriopathies, primary calcific CVD, pulmonary hypertension, hereditary hemorrhagic telangiectasia, monogenic vasculitides, autoinflammatory disorders, syndromic cardiovascular tumors, and metabolic diseases (hypercholesterolemia and MODY). Mendelian CVDs are complemented by maternally-inherited mitochondrial diseases, characterized by heterogeneous, often syndromic phenotypes with frequent cardiovascular involvement. The genetic testing landscape is rapidly expanding, aiming to provide comprehensive and simplified "all-in-one" solutions while improving accessibility and sustainability. Key challenges remain related to technological limitations, result interpretation, and test completeness, representing major priorities for future development in cardiovascular genetics.

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基因检测在心血管疾病中的应用。

综述目的：越来越多的心血管疾病（cvd）的遗传基础的确定大大扩大了对基因检测的临床需求。本文综述了遗传性心血管疾病的主要类群，目前的检测策略，现有方法的局限性，以及提高诊断准确性的未来前景。最近发现：对遗传性心血管疾病的认识不断提高，促进了全面的临床表型、家族筛查以及先进影像学、功能研究和病理调查的整合。这使得遗传学前所未有地融入临床心脏病学，代表了该领域最具变革性的发展之一。这种演变是在多学科框架内发生的，对专业知识和技术创新产生了很高的需求。摘要：孟德尔心血管疾病包括心肌病、心律失常、动脉病变、原发性钙化性心血管疾病、肺动脉高压、遗传性出血性毛细血管扩张、单基因血管炎、自身炎症性疾病、综合征性心血管肿瘤和代谢性疾病（高胆固醇血症和MODY）。孟德尔型心血管疾病是由母亲遗传的线粒体疾病补充的，其特征是异质性，通常是综合征表型，经常累及心血管。基因检测领域正在迅速扩大，旨在提供全面和简化的“一体化”解决方案，同时提高可及性和可持续性。关键的挑战仍然与技术限制、结果解释和测试完整性有关，这代表了心血管遗传学未来发展的主要优先事项。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Current Opinion in Cardiology 医学-心血管系统

CiteScore

4.20

自引率

4.30%

发文量

审稿时长

6-12 weeks

期刊介绍： Current Opinion in Cardiology is a bimonthly publication offering a unique and wide ranging perspective on the key developments in the field. Each issue features hand-picked review articles from our team of expert editors. With fourteen disciplines published across the year – including arrhythmias, molecular genetics, HDL cholesterol and clinical trials – every issue also contains annotated reference detailing the merits of the most important papers.