Subas Trishna, Luiten Rebecca, Hanson-Kahn Andrea, Wheeler Matthew, Caleshu Colleen
Maternal Fetal Medicine, Palo Alto Medical Foundation, Palo Alto, CA, USA.
Clinical Cancer Genetics, Banner MD Anderson Cancer Center, Gilbert, AZ, USA.
J Genet Couns. 2018 Sep 15. doi: 10.1007/s10897-018-0297-6.
Individuals with hypertrophic cardiomyopathy (HCM) and long QT syndrome (LQTS) are advised to avoid certain forms of exercise to reduce their risk of sudden death. Cardiovascular genetic counselors facilitate both adaptation to, and decision-making about, these exercise recommendations. This study describes decision-making and experiences of active adults who exercise above physicians' recommendations. Purposive sampling was used to select adults with HCM and LQTS who self-identified as exercising above recommendations. Semi-structured interviews explored participants' decision-making and the psychological impact of exercise recommendations. Fifteen individuals were interviewed (HCM: 10; LQTS: 5; mean age: 40). Transcripts were coded and analyzed for underlying themes. Despite exercising above recommendations, nearly all participants made some modifications to their prior exercise regimen. Often these decisions changed over time, underscoring the importance of shared decision-making conversations beyond the initial evaluation. The importance of exercise was frequently cited as a reason for continued exercise, as were perceptions of sudden death risk as low, acceptable, or modifiable. Many participants reported that family and friends supported their exercise decisions, with a minority having family or friends that expressed significant reservations. Genetic counselors, cardiologists, and nurses can use these data to inform their counseling regarding exercise recommendations.
肥厚型心肌病（HCM）和长QT综合征（LQTS）患者被建议避免某些形式的运动，以降低猝死风险。心血管遗传咨询师协助这些患者适应运动建议并做出相关决策。本研究描述了那些运动强度超过医生建议的活跃成年人的决策过程和经历。采用目的抽样法选取自我认定运动强度超过建议的HCM和LQTS成年患者。半结构化访谈探讨了参与者的决策过程以及运动建议对其心理的影响。共访谈了15名个体（HCM患者10名；LQTS患者5名；平均年龄40岁）。对访谈记录进行编码并分析潜在主题。尽管运动强度超过建议，但几乎所有参与者都对其先前的运动方案做了一些调整。这些决策常常随时间而改变，这凸显了在初始评估之外进行共同决策对话的重要性。运动的重要性经常被引述为继续运动的理由，对猝死风险的认知为低、可接受或可改变也是如此。许多参与者报告称家人和朋友支持他们的运动决策，少数人的家人或朋友对此表示了极大的保留意见。遗传咨询师、心脏病专家和护士可利用这些数据为有关运动建议的咨询提供参考。
