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Updated: Jul 4, 2025
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
The Expansion of Genetic Testing in Cardiovascular Medicine: Preparing the Cardiology Community for the Changing
Nosheen Reza1, Raye L Alford2, John W Belmont2
1Division of Cardiovascular Medicine, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Insights
Genetic testing is crucial for diagnosing inherited cardiovascular diseases like cardiomyopathies and arrhythmias. Early diagnosis through genetic testing enables targeted therapies and family screening for better patient outcomes.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Molecular Biology
Background:
- Pathogenic DNA variants are linked to various cardiovascular diseases, including familial dyslipidemias, cardiomyopathies, arrhythmias, and aortopathies.
- Monogenic cardiovascular diseases often present similarly to complex genetic or non-genetic conditions, necessitating genetic testing for accurate diagnosis.
Purpose of the Study:
- To review the benefits of genetic testing in cardiovascular disease.
- To identify specific cardiovascular phenotypes where genetic testing is recommended.
- To guide clinicians on integrating genetic testing into practice.
Main Methods:
- Literature review of studies on genetic testing in cardiovascular diseases.
- Analysis of clinical guidelines and expert recommendations.
- Synthesis of evidence on the utility of genetic testing for specific phenotypes.
Main Results:
- Genetic testing aids in precision diagnosis, leading to efficient management and targeted therapies.
- Underutilization of widely available genetic testing for cardiovascular conditions was noted.
- Guidelines exist for integrating genetic testing into clinical practice for specific cardiovascular phenotypes.
Conclusions:
- Genetic testing is essential for the precision diagnosis of inherited cardiovascular diseases.
- Implementing guideline-directed genetic testing improves patient care and family follow-up.
- Increased utilization of genetic testing can optimize treatment strategies for cardiovascular patients.
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. 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.
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