Department of Cardiology, University Medical Center Utrecht, Utrecht, the Netherlands; Netherlands Heart Institute, Utrecht, the Netherlands.
Department of Cardiology, University Medical Center Utrecht, Utrecht, the Netherlands; Netherlands Heart Institute, Utrecht, the Netherlands; ProCardio Center for Innovation, Department of Cardiology, Oslo University Hospital, Rikshospitalet, Oslo, Norway.
J Am Coll Cardiol. 2022 Feb 15;79(6):594-608. doi: 10.1016/j.jacc.2021.11.045.
Clinical screening of the relatives of patients with genetic cardiomyopathies is challenging, as they often lack detectable cardiac abnormalities at presentation. Life-threatening adverse events can already occur in these early stages of disease, so sensitive tools to reveal the earliest signs of disease are needed. The utility of echocardiographic deformation imaging for early detection has been explored for this population in multiple studies but has not been broadly implemented in clinical practice. The authors discuss contemporary evidence on the utility of deformation imaging in relatives of patients with genetic cardiomyopathies. The available body of data shows that deformation imaging reveals early disease-specific abnormalities in dilated cardiomyopathy, hypertrophic cardiomyopathy, and arrhythmogenic cardiomyopathy. Deformation imaging seems promising to enhance the screening and follow-up protocols in relatives, and the authors propose measures to accelerate its implementation in clinical care.
对遗传性心肌病患者的亲属进行临床筛查具有挑战性，因为他们在就诊时通常没有可检测到的心脏异常。在疾病的早期阶段就可能发生危及生命的不良事件，因此需要敏感的工具来揭示疾病的最早迹象。多项研究探讨了超声心动图应变成像在该人群中的早期检测作用，但尚未广泛应用于临床实践。作者讨论了遗传性心肌病患者亲属使用应变成像的最新证据。现有数据表明，应变成像可揭示扩张型心肌病、肥厚型心肌病和致心律失常性右室心肌病的早期特异性疾病异常。应变成像似乎有望增强亲属的筛查和随访方案，作者提出了一些措施来加速其在临床护理中的应用。
