Purpose of Review

Pathogenic DNA variants underlie many cardiovascular disease phenotypes. The most well-recognized of these include familial dyslipidemias, cardiomyopathies, arrhythmias, and aortopathies. The clinical presentations of monogenic forms of cardiovascular disease are often indistinguishable from those with complex genetic and non-genetic etiologies, making genetic testing an essential aid to precision diagnosis.

Recent Findings

Precision diagnosis enables efficient management, appropriate use of emerging targeted therapies, and follow-up of at-risk family members. Genetic testing for these conditions is widely available but under-utilized.

Summary

In this review, we summarize the potential benefits of genetic testing, highlighting the specific cardiovascular disease phenotypes in which genetic testing should be considered, and how clinicians can integrate guideline-directed genetic testing into their practice.

中文翻译：

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心血管医学中基因检测的扩展：让心脏病学界为不断变化的形势做好准备

审查目的

致病性 DNA 变异是许多心血管疾病表型的基础。其中最广为人知的包括家族性血脂异常、心肌病、心律失常和主动脉病。单基因形式的心血管疾病的临床表现通常与具有复杂遗传和非遗传病因的心血管疾病难以区分，这使得基因检测成为精确诊断的重要辅助手段。

最近的发现

精准诊断可以实现高效管理、适当使用新兴靶向疗法以及对高危家庭成员进行随访。针对这些疾病的基因检测已广泛应用，但未得到充分利用。

概括

在这篇综述中，我们总结了基因检测的潜在好处，强调了应考虑进行基因检测的特定心血管疾病表型，以及临床医生如何将指南指导的基因检测整合到他们的实践中。