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How will the human genome project change cardiovascular medicine?
  1. Association Claude Bernard and UPRES EA 2390 “Genetics of Heart Failure”
  2. Hôpital Pitié Salpêtrière
  3. 75013 Paris
  4. France

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Cardiovascular disorders represent a major public health concern because of their high prevalence, morbidity, and mortality. Indeed hypertension, coronary artery disease, heart failure, stroke or peripheral vascular diseases are a major contributor to mortality and, because of the increase in life expectancy and aging, a pandemic both in developed and developing countries. The completion of the first working draft of the human DNA sequence,1 which was recently published, is considered by the international community as a major scientific contribution of the human genome project (HGP), an unprecedented international collaborative programme. How the HGP will affect cardiovascular medicine is therefore a question of paramount importance because of the socioeconomic impact of these disorders.


Human DNA sequencing opens the door wide on promising perspectives in cardiovascular genetics.


Although positional cloning has allowed major breakthroughs in the understanding of the genetic background of various familial and often rare diseases, including myocardial disorders (hypertrophic cardiomyopathy), arrhythmic disorders (long QT syndrome), vascular diseases (Marfan syndrome) or various congenital heart diseases, a number of monogenic cardiovascular disorders remain unravelled.2 Arrhythmogenic right ventricular cardiomyopathy, dilated cardiomyopathy or mitral valve prolapse have been associated with chromosomal loci but the underlying molecular defect remains unknown. The publication of lists of genes included in the morbid loci associated with these disorders should therefore allow a more rapid identification of morbid genes.

An even more exciting impact of the HGP on cardiovascular medicine is the identification of genetic variants associated with the more prevalent complex diseases such as atherosclerosis or hypertension. Until now, the genetic strategies used to identify susceptibility genes in these disorders have been in part limited by the small number of variants available. The systematic description of all common variants contained in the human genome, including single nucleotide polymorphism,3 should allow the development of new …

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