Genetics of hypertrophic cardiomyopathy: one, two, or more diseases?
JM Bos, SR Ommen, MJ Ackerman - Current opinion in cardiology, 2007 - journals.lww.com
JM Bos, SR Ommen, MJ Ackerman
Current opinion in cardiology, 2007•journals.lww.comGenomic medicine has entered clinical practice and the diagnostic utility of genetic testing
for hypertrophic cardiomyopathy is clearly evident, but with the growing number of
hypertrophic cardiomyopathy-associated genes strategic choices have to be made. With
recent discoveries in genotype–phenotype relationships, especially pertaining to the
echocardiographic septal shape and the underlying pathogenetic mutation, time has come
to subdivide the one disease we call hypertrophic cardiomyopathy.
for hypertrophic cardiomyopathy is clearly evident, but with the growing number of
hypertrophic cardiomyopathy-associated genes strategic choices have to be made. With
recent discoveries in genotype–phenotype relationships, especially pertaining to the
echocardiographic septal shape and the underlying pathogenetic mutation, time has come
to subdivide the one disease we call hypertrophic cardiomyopathy.
Summary
Genomic medicine has entered clinical practice and the diagnostic utility of genetic testing for hypertrophic cardiomyopathy is clearly evident, but with the growing number of hypertrophic cardiomyopathy-associated genes strategic choices have to be made. With recent discoveries in genotype–phenotype relationships, especially pertaining to the echocardiographic septal shape and the underlying pathogenetic mutation, time has come to subdivide the one disease we call hypertrophic cardiomyopathy.
Lippincott Williams & Wilkins