Quality of Life and Psychological Distress in Hypertrophic Cardiomyopathy Mutation Carriers: A Cross-Sectional Cohort Study
Quality of Life and Psychological Distress in Hypertrophic Cardiomyopathy Mutation Carriers: A Cross-Sectional Cohort Study
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DOI：
10.1002/ajmg.a.32710
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发表时间：
2009-04-01
影响因子：
2
通讯作者：
Smets, Ellen M. A.
中科院分区：
文献类型：
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作者：
Christiaans, Imke;van Langen, Irene M.;Smets, Ellen M. A.
肥厚型心肌病(HCM)是一种常见的遗传性心脏病，与心力衰竭和猝死有关。在HCM患者中发现生活质量和心理痛苦受损，但从未在突变携带者中进行评估，无论是否有明显的HCM。我们的目的是使用标准化问卷评估生活质量和心理痛苦，并确定与社会人口学、临床、风险和疾病感知相关的预测因素，在228名HCM突变携带者中。HCM携带者的总体生活质量和痛苦评分与荷兰人没有不同。在DNA检测前有明显的HCM的携带者的生活质量和痛苦最差，而没有HCM的预测性携带者的生活质量和痛苦最好。后一组人的生活质量甚至明显好于普通人群。躯体生活质量受损的主要决定因素是症状(Beta=5.2P=0.001)和对运输严重后果的较强信念(Beta=3.5P<；0.001)，精神生活质量受损的决定因素是躯体共病(Beta=3.0P=0.020)和对症状的较高感知风险(Beta=0.9P=0.001)。女性(Beta=1.4，P=0.004)和较强的情绪反应(Beta=1.2，P=0.002)与更多的焦虑相关。对承运人的了解较少(Beta=0.9，P=0.007)和对严重后果的信念较强(Beta=0.8，P=0.008)会增加抑郁。与荷兰人相比，生活质量和痛苦程度并未受到影响。疾病和风险感知相关变量是生活质量和痛苦的主要决定因素。由于这些变量可以在测试前和测试后咨询期间进行处理和调整，因此遗传咨询应该关注这些决定因素。(C)2009年Wiley-Liss，Inc.
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. (C) 2009 Wiley-Liss, Inc.