Abstract
Advances in genetic testing technology have led to a proliferation of new genetic tests and accelerated developments in the field of cardiovascular genetic medicine. These advances enhance presymptomatic diagnosis and can establish a definitive molecular diagnosis for symptomatic patients at risk for sudden cardiac death. Most importantly, genotype-phenotype correlations can add important information for predicting outcome and selecting treatment for patients with inherited arrhythmic disorders. This paper reviews the current data regarding genotype-phenotype correlations and the role of clinical genetic testing in diagnosis, prognosis, and management of inheritable disorders leading to sudden cardiac death.
MeSH terms
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Arrhythmogenic Right Ventricular Dysplasia / diagnosis
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Arrhythmogenic Right Ventricular Dysplasia / genetics
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Brugada Syndrome / diagnosis
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Brugada Syndrome / genetics
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Cardiomyopathy, Dilated / diagnosis
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Cardiomyopathy, Dilated / genetics
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Cardiomyopathy, Hypertrophic / diagnosis
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Cardiomyopathy, Hypertrophic / genetics
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DNA Mutational Analysis
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Death, Sudden, Cardiac / etiology*
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Female
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Genetic Association Studies*
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Genetic Predisposition to Disease
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Genetic Testing*
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Heart Diseases / complications
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Heart Diseases / diagnosis*
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Heart Diseases / genetics*
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Heart Diseases / mortality
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Humans
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Kaplan-Meier Estimate
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Long QT Syndrome / diagnosis
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Long QT Syndrome / genetics
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Male
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Mutation*
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Prognosis
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Risk Factors
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Tachycardia, Ventricular / diagnosis
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Tachycardia, Ventricular / genetics