- Evaluation of outcomes of cardiogenetic testing in inherited arrhythmias
I.M. van Langen
- Award date
- 23 January 2013
- Number of pages
- Document type
- PhD thesis
- Faculty of Medicine (AMC-UvA)
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.
- Research conducted at: Universiteit van Amsterdam
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