Genetic Epidemiology Research Group, Department of Public Health and Primary Health Care, University of Bergen, Bergen, Norway.
BMC Med Genet. 2010 Feb 17;11:27. doi: 10.1186/1471-2350-11-27.
The possibilities in the molecular genetics of long QT syndrome (LQTS) and hypertrophic cardiomyopathy (HCM) has made family screening, with diagnostic and predictive genetic testing part of the health care offer in genetic counselling of inherited arrhythmias, potentially affecting the subjective health among these individuals. The study compared health status among patients at risk of arrhythmia because of family history or clinical diagnosis of LQTS and HCM with reference health status scores of the general population.
In the period 2005-2007, 127 patients (mean age 45 years, 53.5% women), with a family history of arrhythmia (n = 95) or a clinical diagnosis of LQTS (n = 12) or HCM (n = 19) referred for genetic counselling at the medical genetic departments in Norway filled in a questionnaire (Short Form Health Survey SF-36) measuring health status on eight domains. The patient SF-36 scores were compared to expected scores of the general population by t-test, and the relationship between the socio-demographic variables, clinical status, and SF-36 domains were analysed by multiple linear regression.
The total sample reported significant lower SF-36 score as compared to the general population scores for the domain of general health (mean difference -7.3 (<0.001). When analysing the sample in subgroups according to clinical status, the general health was still significant lower for the group of family risk and in the group of HCM. In addition the physical functioning, role physical, vitality and role emotional domains were reduced for the latter group. In general, employment, higher education and being referred to genetic counselling through a family member were associated with better scores on the health status domains.
Having a genetic risk of arrhythmia affects general health significantly. In addition, patients with a clinical diagnosis of HCM demonstrate a significantly poorer health in both physical and mental domains.
长 QT 综合征（LQTS）和肥厚型心肌病（HCM）的分子遗传学可能性使得家族筛查成为遗传性心律失常遗传咨询中诊断和预测性基因检测的一部分，这可能会影响这些个体的主观健康。本研究比较了因家族史或临床诊断为 LQTS 和 HCM 而有发生心律失常风险的患者的健康状况与一般人群的参考健康评分。
在 2005-2007 年期间，挪威医学遗传科就诊进行遗传咨询的 127 名患者（平均年龄 45 岁，53.5%为女性）填写了一份问卷（简短健康调查 SF-36），评估了 8 个领域的健康状况。采用 t 检验比较患者 SF-36 评分与一般人群的预期评分，采用多元线性回归分析社会人口统计学变量、临床状况与 SF-36 各领域之间的关系。
与一般人群的评分相比，总样本的 SF-36 总分在一般健康领域的评分明显较低（平均差异 -7.3，<0.001）。当根据临床状况对样本进行亚组分析时，家族风险组和 HCM 组的一般健康状况仍然明显较低。此外，后一组的身体机能、身体角色、活力和情绪角色得分也有所下降。一般来说，就业、高等教育和通过家庭成员转诊进行遗传咨询与健康状况各领域的评分较高相关。
具有心律失常的遗传风险会显著影响一般健康。此外，临床诊断为 HCM 的患者在身体和心理两个领域的健康状况均显著较差。
