Hendriks Karin S W H, Hendriks Margriet M W B, Birnie Erwin, Grosfeld Frans J M, Wilde Arthur A M, van den Bout Jan, Smets Ellen M A, van Tintelen J Peter, ten Kroode Herman F J, van Langen Irene M
Department of Medical Psychology, University Medical Centre Utrecht, the Netherlands.
Heart Rhythm. 2008 May;5(5):719-24. doi: 10.1016/j.hrthm.2008.01.032. Epub 2008 Jan 30.
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.
A psychological study was initiated to investigate the extent and course of distress caused by this new form of predictive genetic testing.
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.
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.
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.
自1996年以来，荷兰对患有长QT综合征的家庭进行了心脏和分子筛查，长QT综合征是一种潜在的危及生命但可治疗的心律失常综合征。在这些家庭中，预测性心脏和分子筛查的心理后果相对不为人知。
开展一项心理学研究，以调查这种新型预测性基因检测所导致的痛苦程度和过程。
我们进行了一项前瞻性研究，以评估预测性基因检测在申请人及其伴侣中引发的与疾病相关的焦虑和抑郁程度及过程，从首次咨询时起至基因检测结果披露后18个月。
在3次评估中对77名申请人和57名伴侣进行了痛苦程度测量。那些心电图结果不确定的个体似乎尤其容易陷入痛苦，至少在短期内如此。整个申请人群体的痛苦水平在18个月内基本恢复。然而，携带者中与疾病相关的焦虑评分长期来看仍相对较高。与非携带者的伴侣相比，突变携带者的伴侣在所有3次评估中与疾病相关的焦虑水平都更高。
由心脏检查随后进行分子检查组成的长QT综合征预测性检测会导致痛苦，尤其是在首次就诊时心电图结果不确定的携带者及其伴侣中。这些痛苦水平长期会恢复正常。然而，对于心电图结果不确定的携带者，临床相关痛苦的发生率很高，很可能也是由患病后果导致的。
