[Hypertrophic cardiomyopathy: from diagnosis to prevention].
In a 55-year-old man, his two sons aged 32 and 30 years and a 3-year-old grandchild, a gene mutation related to an increased chance of hypertrophic cardiomyopathy was found. The adults had complaints of cardiac arrhythmias varying from dizziness to cardiac arrest and received medication; a defibrillator was also implanted in the case of the sons. Familial hypertrophic cardiomyopathy can be diagnosed in an early stage with DNA screening methods. At that time 'patients' (carriers) often do not exhibit symptoms. This offers the possibility of taking therapeutic measures to prevent or slow down the disease process. However, the scientific basis for preventive therapy is inadequate, so that medical-ethical dilemmas arise which can affect the decision-making process with respect to genetic testing. Additional research must lead to satisfactory preventive therapies, so that in the future the genetic diagnosis 'hypertrophic cardiomyopathy' can be effectively translated into disease prevention.
Hassink
R J
RJ
Afd. Cardio-thoracale Chirurgie, Universitair Medisch Centrum, Hart-Long Centrum, Utrecht.
Grosfeld
M J
MJ
Marcelis
C
C
Delhaas
T
T
Doevendans
P A
PA
D000328:Adult; D001145:Arrhythmias, Cardiac / Q000209:etiology / Q000517:prevention & control; D002312:Cardiomyopathy, Hypertrophic / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000517:prevention & control*; D002675:Child, Preschool; D017147:Defibrillators, Implantable; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation