肥厚性心肌病
外显率
自然史
无症状的
医学
疾病
心肌病
心脏病学
心源性猝死
肌肉肥大
肌节
纤维化
内科学
分子遗传学
基因检测
心肌细胞
遗传学
心力衰竭
生物
基因
表型
作者
Polakit Teekakirikul,Wenjuan Zhu,Helen C. Huang,Erik Fung
出处
期刊:Biomolecules
[MDPI AG]
日期:2019-12-16
卷期号:9 (12): 878-878
被引量:81
摘要
Hypertrophic cardiomyopathy (HCM) is a genetically heterogeneous cardiac muscle disorder with a diverse natural history, characterized by unexplained left ventricular hypertrophy (LVH), with histopathological hallmarks including myocyte enlargement, myocyte disarray and myocardial fibrosis. Although these features can cause significant cardiac symptoms, many young individuals with HCM are asymptomatic or mildly symptomatic. Sudden cardiac death (SCD) may occur as the initial clinical manifestation. Over the past few decades, HCM has been considered a disease of sarcomere, and typically as an autosomal dominant disease with variable expressivity and incomplete penetrance. Important insights into the genetic landscape of HCM have enhanced our understanding of the molecular pathogenesis, empowered gene-based diagnostic testing to identify at-risk individuals, and offered potential targets for the development of therapeutic agents. This article reviews the current knowledge on the clinical genetics and management of HCM.
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