The genetics of cardiovascular disease

From genotype to phenotype

R. Sanders Williams, Pascal Goldschmidt-Clermont

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

Genetics plays only a minor role in the current practice of clinical cardiology, despite a widespread appreciation of the familial nature of common cardiovascular disorders. Recent discoveries have elucidated the molecular basis for several heritable forms of cardiomyopathy, dysrhythmia, accelerated atherosclerosis, and structural malformations of the heart, but patients with these conditions are rarely encountered except in a few specialized referral centers. However, the completion of the Human Genome Project and advances in large-scale genome technologies have raised expectations that the determination of genotypes in individual patients will soon become germane to decisions made every day by busy clinicians. Beyond question, recent advances in cardiovascular genetics have provided powerful new insights into disease mechanisms, and a burgeoning literature attests to the enthusiasm with which cardiovascular investigators are seeking to define relationships between genotypes and phenotypes in common, as well as rare, forms of heart disease. This review provides a critical framework within which the clinical cardiologist can understand and evaluate the specific advances in cardiovascular genetics most likely to have practical value for patient management in the near term.

Original languageEnglish
Pages (from-to)3-19
Number of pages17
JournalDialogues in Cardiovascular Medicine
Volume9
Issue number1
StatePublished - May 13 2004
Externally publishedYes

Fingerprint

Inborn Genetic Diseases
Cardiovascular Diseases
Genotype
Phenotype
Human Genome Project
Congenital Heart Defects
Cardiology
Cardiomyopathies
Heart Diseases
Atherosclerosis
Referral and Consultation
Research Personnel
Genome
Technology

Keywords

  • Atherosclerosis
  • Cardiomyopathy
  • Genome
  • Genotype
  • Hypertension
  • Phenotype

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Sanders Williams, R., & Goldschmidt-Clermont, P. (2004). The genetics of cardiovascular disease: From genotype to phenotype. Dialogues in Cardiovascular Medicine, 9(1), 3-19.

The genetics of cardiovascular disease : From genotype to phenotype. / Sanders Williams, R.; Goldschmidt-Clermont, Pascal.

In: Dialogues in Cardiovascular Medicine, Vol. 9, No. 1, 13.05.2004, p. 3-19.

Research output: Contribution to journalArticle

Sanders Williams, R & Goldschmidt-Clermont, P 2004, 'The genetics of cardiovascular disease: From genotype to phenotype', Dialogues in Cardiovascular Medicine, vol. 9, no. 1, pp. 3-19.
Sanders Williams R, Goldschmidt-Clermont P. The genetics of cardiovascular disease: From genotype to phenotype. Dialogues in Cardiovascular Medicine. 2004 May 13;9(1):3-19.
Sanders Williams, R. ; Goldschmidt-Clermont, Pascal. / The genetics of cardiovascular disease : From genotype to phenotype. In: Dialogues in Cardiovascular Medicine. 2004 ; Vol. 9, No. 1. pp. 3-19.
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