Faculty of Medicine and Heath, the University of Sydney, Sydney, New South Wales, Australia.
Department of Cardiology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.
Nat Cardiovasc Res. 2024 Nov;3(11):1274-1283. doi: 10.1038/s44161-024-00558-1. Epub 2024 Nov 1.
The inherited cardiomyopathies exhibit a broad spectrum of disease, with some patients remaining asymptomatic throughout life, while, for others, the first symptom of disease is sudden cardiac death at a young age. The risk of malignant ventricular arrhythmia in these conditions has traditionally been linked to the degree of structural myocardial abnormalities and functional impairment. However, recent advances in genetic testing and knowledge of the genetic basis of the diseases have led to the identification of concealed cardiomyopathy, in which sudden cardiac arrest or sudden cardiac death occurs in the absence of observable clinical features of cardiomyopathy, with a diagnosis being made only after the identification of a causative genetic variant. Increased awareness of concealed cardiomyopathy, a better understanding of mechanisms of arrhythmia and identification of risk modulators will be vital to improve care for families with concealed cardiomyopathy.
遗传性心肌病表现出广泛的疾病谱,有些患者终生无症状,而有些患者则在年轻时首次出现症状为心源性猝死。这些情况下恶性室性心律失常的风险传统上与结构性心肌异常和功能障碍的程度有关。然而,遗传检测的最新进展和对疾病遗传基础的了解,导致了隐匿性心肌病的出现,即尽管没有可观察到的心肌病临床特征,但在识别出致病基因突变后,才会发生心源性骤停或心源性猝死。提高对隐匿性心肌病的认识、更好地理解心律失常机制以及识别风险调节剂,对于改善隐匿性心肌病患者的护理至关重要。