The Heart Hospital, 16-18 Westmoreland Street, London, W1G 8PH, UK.
Biomark Med. 2013 Aug;7(4):505-16. doi: 10.2217/bmm.13.79.
Hypertrophic cardiomyopathy is a common inherited heart muscle disorder associated with sudden cardiac death, arrhythmias and heart failure. Genetic mutations can be identified in approximately 60% of patients; these are commonest in genes that encode proteins of the cardiac sarcomere. Similar to other Mendelian diseases these mutations are characterized by incomplete penetrance and variable clinical expression. Our knowledge of this genetic diversity is rapidly evolving as high-throughput DNA sequencing technology is now used to characterize an individual patient's disease. In addition, the genomic basis of several multisystem diseases associated with a hypertrophic cardiomyopathy phenotype has been elucidated. Genetic biomarkers can be helpful in making an accurate diagnosis and in identifying relatives at risk of developing the condition. In the clinical setting, genetic testing and genetic screening should be used pragmatically with appropriate counseling. Here we review the current role of genetic biomarkers in hypertrophic cardiomyopathy, highlight recent progress in the field and discuss future challenges.
肥厚型心肌病是一种常见的遗传性心肌疾病，与心脏性猝死、心律失常和心力衰竭有关。大约 60%的患者可发现基因突变；这些突变最常见于编码心肌肌节蛋白的基因中。与其他孟德尔疾病一样，这些突变的特征是不完全外显率和可变的临床表现。随着高通量 DNA 测序技术的应用，我们对这种遗传多样性的认识正在迅速发展，用于描述个体患者的疾病。此外，几种与肥厚型心肌病表型相关的多系统疾病的基因组基础已经阐明。遗传生物标志物有助于做出准确的诊断，并识别有发病风险的亲属。在临床环境中，基因检测和基因筛查应在适当咨询的情况下进行实际应用。在这里，我们回顾了遗传生物标志物在肥厚型心肌病中的当前作用，强调了该领域的最新进展，并讨论了未来的挑战。
