Cardiovascular Division, Brigham and Women's Hospital, Boston, Massachusetts.
Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts.
Mol Genet Genomic Med. 2019 Nov;7(11):e940. doi: 10.1002/mgg3.940. Epub 2019 Sep 3.
Individuals with hypertrophic cardiomyopathy (HCM), even when asymptomatic, are at-risk for sudden cardiac death and stroke from arrhythmias, making it imperative to identify individuals affected by this familial disorder. Consensus guidelines recommend that first-degree relatives (FDRs) of a person with HCM undergo serial cardiovascular evaluations.
We determined the uptake of family screening in patients with HCM and developed an online video intervention to facilitate family communication and screening. Family screening and genetic testing data were collected through a prospective quality improvement initiative, a standardized clinical assessment and management plan (SCAMP), utilized in an established cardiovascular genetics clinic. Patients were prescribed an online video if screening of their FDRs was incomplete and a pilot study on video utilization and family communication was conducted.
Two-hundred and sixteen probands with HCM were enrolled in SCAMP Phase I and 190 were enrolled in SCAMP Phase II. In both phases, probands reported that 51% of FDRs had been screened (382/749 in Phase I, 258/504 in Phase II). Twenty patients participated in a pilot study on video utilization and family communication. Nine participants reported watching the video and six participants reported sharing the video with relatives; however only one participant reported sharing the video with relatives who were not yet aware of the diagnosis of HCM in the family.
Despite care in a specialized cardiovascular genetics clinic, approximately one half of FDRs of patients with HCM remained unscreened. Online interventions and videos may serve as supplemental tools for patients communicating genetic risk information to relatives.
肥厚型心肌病（HCM）患者即使无症状，也存在心律失常导致心源性猝死和卒中的风险，因此必须识别受这种家族性疾病影响的个体。共识指南建议 HCM 患者的一级亲属（FDR）接受连续心血管评估。
我们确定了 HCM 患者的家族筛查接受情况，并开发了在线视频干预措施，以促进家庭沟通和筛查。通过前瞻性质量改进计划、标准化临床评估和管理计划（SCAMP）收集家族筛查和基因检测数据，该计划在已建立的心血管遗传学诊所中使用。如果 FDR 的筛查不完整，为患者开处方在线视频，如果进行了视频使用和家庭沟通的试点研究。
216 名 HCM 先证者纳入 SCAMP 阶段 I，190 名纳入 SCAMP 阶段 II。在两个阶段，先证者报告称 51%的 FDR 已接受筛查（第一阶段 382/749，第二阶段 258/504）。20 名患者参加了视频使用和家庭沟通的试点研究。9 名参与者报告观看了视频，6 名参与者报告与亲属分享了视频；然而，只有 1 名参与者报告与尚未了解家族中 HCM 诊断的亲属分享了视频。
尽管在专门的心血管遗传学诊所接受治疗，但约有一半的 HCM 患者的 FDR 仍未接受筛查。在线干预和视频可能是患者向亲属传达遗传风险信息的辅助工具。
