Christiaans Imke, van Langen Irene M, Birnie Erwin, Bonsel Gouke J, Wilde Arthur A M, Smets Ellen M A
Academic Medical Center, Department of Clinical Genetics, Amsterdam, The Netherlands.
Am J Med Genet A. 2009 Feb 15;149A(4):602-12. doi: 10.1002/ajmg.a.32710.
Hypertrophic cardiomyopathy (HCM) is a common hereditary heart disease associated with heart failure and sudden death. Quality of life and psychological distress were found to be impaired in HCM patients but have never been assessed in mutation carriers, with or without manifest HCM. We aimed to assess quality of life and psychological distress, using standardized questionnaires, and to identify sociodemographic, clinical, risk and illness perception related predictors thereof in 228 HCM mutation carriers. HCM carriers' overall quality of life and distress scores did not differ from the Dutch population. Quality of life and distress were worst in carriers with manifest HCM before DNA testing and best in predictively tested carriers without HCM. The latter group had even significantly better quality of life than the general population. Substantial determinants of impaired physical quality of life were symptoms (beta = 5.2, P = 0.001) and stronger belief in serious consequences of carriership (beta = 3.5, P < 0.001); determinants of impaired mental quality of life were physical comorbidity (beta = 3.0, P = 0.020) and a higher perceived risk of symptoms (beta = 0.9, P = 0.001). Female gender (beta = 1.4, P = 0.004) and stronger emotional reactions (beta = 1.2, P = 0.002) were associated with more anxiety. Less understanding of carriership (beta = 0.9, P = 0.007) and stronger belief in serious consequences (beta = 0.8, P = 0.008) increased depression. Levels of quality of life and distress were not impaired compared to the Dutch population. Illness and risk perception related variables were major determinants of quality of life and distress. Because these variables can be addressed and adjusted during pre- and post-test counseling, genetic counseling should focus on these determinants.
肥厚型心肌病（HCM）是一种常见的遗传性心脏病，与心力衰竭和猝死相关。研究发现，HCM患者的生活质量和心理困扰有所受损，但从未对有或无明显HCM的突变携带者进行过评估。我们旨在使用标准化问卷评估生活质量和心理困扰，并在228名HCM突变携带者中确定与其相关的社会人口统计学、临床、风险和疾病认知预测因素。HCM携带者的总体生活质量和困扰评分与荷兰人群无差异。在DNA检测前有明显HCM的携带者中，生活质量和困扰最严重，而在预测检测后无HCM的携带者中则最佳。后一组的生活质量甚至显著优于一般人群。身体生活质量受损的主要决定因素是症状（β=5.2，P=0.001）和对携带者严重后果的更强信念（β=3.5，P<0.001）；心理生活质量受损的决定因素是身体合并症（β=3.0，P=0.020）和更高的症状感知风险（β=0.9，P=0.001）。女性（β=1.4，P=0.004）和更强的情绪反应（β=1.2，P=0.002）与更多焦虑相关。对携带者的理解较少（β=0.9，P=0.007）和对严重后果的更强信念（β=0.8，P=0.008）会增加抑郁。与荷兰人群相比，生活质量和困扰水平并未受损。与疾病和风险认知相关的变量是生活质量和困扰的主要决定因素。由于这些变量可以在检测前和检测后咨询期间得到解决和调整，遗传咨询应关注这些决定因素。
