The genetics of heart disease: An update

Recent discoveries hold the promise of better detection and treatment of coronary artery disease.


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Coronary artery disease — the buildup of cholesterol-laden plaque in the heart's arteries — is by far the most prevalent life-threatening heart condition. Despite many important discoveries, the genetic influence on this complex condition remains far from clear. But research continues to provide clues that may soon improve both the prediction and the treatment of this common disease beyond current testing of risk factors.

Inherited heart disease: Rare vs. common

Many different types of heart disease can be passed down through families. Some are caused by just one or a few genetic changes that have a very strong effect in causing disease. Known as monogenic conditions, they include uncommon disorders that mostly affect the heart's muscle (such as hypertrophic cardiomyopathy) or electrical system (such as long QT syndrome). Another example is familial hypercholesterolemia, which causes very high cholesterol levels and may lead to premature coronary artery disease (occurring before age 50).

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