The phenotype/genotype relation and the current status of genetic screening in hypertrophic cardiomyopathy, Marfan syndrome, and the long QT syndrome

摘要

Hypertrophic cardiomyopathy, Marfan syn- drome, and the long QT syndrome are all autosomal disorders inhertied in a dominant manner; affected individuals are heterozygous, that is they have one normal and one mutant coy of the gene but not all the gene carriers are symptomatic. This failure to express fully the expected phenotype is traditionally known as incomplete penetrance.