Abstract
Hypertrophic cardiomyopathy is a common autosomal dominant disease, associated with heart failure and arrhythmias predisposing to sudden cardiac death. After the detection of the causal mutation in the proband predictive DNA testing of relatives is possible (cascade screening). Prevention of sudden cardiac death in patients with a high risk by means of an implantable cardioverter defibrillator is effective. In 97 hypertrophic cardiomyopathy families with a sarcomere gene mutation we retrospectively determined uptake of genetic counselling and predictive DNA testing in relatives within 1 year after the detection of the causal mutation in the proband. Uptake of genetic counselling was 39% and did not differ significantly by proband's or relative's gender, nor by young age of the relative (
| Original language | English |
|---|---|
| Pages (from-to) | 1201-1207 |
| Number of pages | 7 |
| Journal | European Journal of Human Genetics |
| Volume | 16 |
| Issue number | 10 |
| DOIs | |
| Publication status | Published - Oct-2008 |
Keywords
- myosin binding protein C
- adolescent
- adult
- age
- article
- child
- familial hypertrophic cardiomyopathy
- family attitude
- family history
- family study
- female
- first degree relative
- gender
- gene mutation
- genetic counseling
- genetic screening
- human
- major clinical study
- male
- predictive DNA testing
- priority journal
- relative
- sarcomere
- second degree relative
- sudden death