The genetics of cardiovascular disease:
from genotype to phenotype |
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...
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