Andersen Janice, Øyen Nina, Bjorvatn Cathrine, Gjengedal Eva
Department of Public Health and Primary Health Care, University of Bergen, Bergen, Norway.
J Genet Couns. 2008 Oct;17(5):489-98. doi: 10.1007/s10897-008-9167-y. Epub 2008 Aug 22.
Long QT syndrome (LQTS) is a congenital disorder associated with increased risk of sudden cardiac death; LQTS patients and their families are offered diagnostic or predictive genetic testing. The purpose of this qualitative study was to investigate the psychosocial aspects of living with LQTS, to identify LQTS patients' daily life challenges and coping strategies, and to describe their experiences with healthcare services. In-depth interviews were conducted with seven individuals who had been tested for long QT genetic mutation. Four of these participants had an implantable cardiac defibrillator (ICD). The participants reported that early and gradually acquired knowledge of the syndrome was an advantage. They also reported experiencing worries and limitations in daily life, but their main concern was for their children or grandchildren. Healthcare providers' minimal knowledge of LQTS resulted in uncertainty, misinformation, and even wrong advice regarding treatment. The results suggest that regional centers, with the appropriate expertise, should investigate and counsel LQTS patients and their families.
长QT综合征（LQTS）是一种先天性疾病，与心脏性猝死风险增加相关；LQTS患者及其家属可接受诊断性或预测性基因检测。这项定性研究的目的是调查患有LQTS的心理社会方面，确定LQTS患者的日常生活挑战和应对策略，并描述他们在医疗服务方面的经历。对七名接受过长QT基因突变检测的个体进行了深入访谈。其中四名参与者植入了心脏除颤器（ICD）。参与者报告说，早期并逐渐获得的综合征知识是一个优势。他们还报告在日常生活中经历担忧和限制，但他们主要担心的是自己的子女或孙辈。医疗服务提供者对LQTS的了解有限，导致在治疗方面存在不确定性、错误信息甚至错误建议。结果表明，具备适当专业知识的地区中心应该对LQTS患者及其家属进行调查和咨询。
