Familial disease with a risk of sudden death: a longitudinal study of the psychological consequences of predictive testing for long QT syndrome

Abstract

Background: Since 1996, in the Netherlands, cardiac and molecular screening has been performed in families with the long QT syndrome, a potentially life-threatening but treatable cardiac arrhythmia syndrome. The psychological consequences of predictive cardiac and molecular screening in these families are relatively unknown.

Objective: A psychological study was initiated to investigate the extent and course of distress caused by this new form of predictive genetic testing.

Methods: We carried out a prospective study to assess the extent and course of disease-related anxiety and depression, caused by predictive genetic testing, in applicants and their partners from the time of first consultation until 18 months after the disclosure of the result of genetic testing.

Results: Seventy-seven applicants and 57 partners were investigated for measures of distress in 3 assessments. Those individuals who received an uncertain electrocardiogram result seemed especially vulnerable for distress, at least in the short term. The distress levels in the whole group of applicants were largely restored within 18 months. However, the disease-related anxiety scores in carriers remained relatively increased at long term. As compared with partners of noncarriers, partners of mutation carriers had higher levels of disease-related anxiety at all 3 assessments.

Conclusion: Predictive testing for long QT syndrome consisting of cardiologic testing followed by molecular testing leads to distress, especially in carriers with an uncertain electrocardiogram and their partners at first visit. These distress levels return to normal at long term. However, for carriers with an uncertain electrocardiogram, the incidence of clinically relevant distress was high, most probably also caused by the consequences of having the disease.