Abstract
Interest in familial or genetic heart diseases by cardiologists is often minimal because they are believed to account for only a small proportion of the diseases of the heart. However, there is a great potential to improve the diagnosis, treatment and prevention of acquired diseases from identifying the genetic defect responsible for familial diseases. This was perhaps best illustrated in the recognition and treatment of the role of cholesterol in coronary artery disease. Brown and Goldstein elucidated the receptor responsible for the uptake of cholesterol and subsequently the metabolic pathway in familial hypercholesterolemia. This familial disorder probably accounts for less than 2% of all patients with coronary artery disease. Nevertheless, these studies subsequently led to others which proved that cholesterol is a major etiological factor in acquired coronary artery disease and is now the main target of treatment for the prevention and treatment of coronary disease. Death from CAD has been reduced by 50% in the past 30 years, in large part due to the treatment of hypercholesterolemia.
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Brugada, R., Roberts, R. (2000). Familial Atrial Fibrillation. In: Berul, C.I., Towbin, J.A. (eds) Molecular Genetics of Cardiac Electrophysiology. Developments in Cardiovascular Medicine, vol 231. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-4517-0_7
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DOI: https://doi.org/10.1007/978-1-4615-4517-0_7
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