The phenotype/genotype relation and the current status of genetic screening in hypertrophic cardiomyopathy, Marfan syndrome, and the long QT syndrome.
Key result
Hypertrophic cardiomyopathy, Marfan syndrome, and long QT syndrome are autosomal dominant disorders characterized by incomplete penetrance, where not all gene carriers are symptomatic.
Population
Individuals with hypertrophic cardiomyopathy, Marfan syndrome, or long QT syndrome
Design
Review
Authors
Discussion
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Implication
Incomplete penetrance warrants cautious genetic counseling in these disorders; leaves open identification of modifiers driving variable expression.
Structured PICO
P
Population
Individuals with hypertrophic cardiomyopathy, Marfan syndrome, or long QT syndrome
I
Intervention
Genetic screening
The paper reviews the phenotype/genotype relationship and incomplete penetrance in autosomal dominant cardiovascular disorders including hypertrophic cardiomyopathy, Marfan syndrome, and long QT syndrome.
Cite This Study
Burn et al. (1997) studied this question. Hypertrophic cardiomyopathy, Marfan syndrome, and long QT syndrome are autosomal dominant disorders characterized by incomplete penetrance, where not all gene carriers are symptomatic.