This thesis narrates the clinical experience of 15 years of cardiogenetic counseling in the Netherlands: the yield of genetic
counseling and cascade screening, the number of treated, predictive tested, relatives of probands with a primary inherited
heart disease, and the yield of cardiologic and genetic testing of family members after unexplained sudden death of a close
relative. Behind all these efforts there is one goal: to identify risk-carriers and protect them from life-threatening arrhvthmias
by timely treatment. Molecular analysis revealed several different founder mutations both in cardiomyopathies and primary
electrical disease, which is important in studying disease modifiers and phenotype-genotype correlations. The study of referral
of probands with a long-QT syndrome revealed geographical differences in recognition and referral of patients and their families,
and thereby suggested underdiagnosis of patients in important parts of the country. Although patient care/counseling, timely
treatment, up-to-date education of general practitioners and cardiologists and ongoing research have proven to be successful
in the past 15 years, with the rapid involvement of new molecular techniques, this seems to be just the start of the next
era in which careful interpretation of probably many variants should be translated into clinical practice.
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