合并眼部病变的肥厚型心肌病

Hypertrophic cardiomyopathy accompanied with ocular lesions

约60%的青少年和成人的肥厚型心肌病是心肌肌节蛋白基因突变导致的常染色体显性遗传病。而5%~10%的患者是由其他遗传性疾病包括代谢和神经肌肉疾病、染色体异常和遗传综合征等所致,且常合并心脏外表现,包括眼部病变。了解这些表现有助于对肥厚型心肌病的诊断。

About 60%of adolescents and adults with hypertrophic cardiomyopathy are autosomal dominant trait caused by mutations in cardiac sarcomere protein genes.5%to 10%of adult cases are caused by other genetic disorders including inherited metabolic and neuromuscular diseases,chromosome abnormalities and genetic syndrome.A number of noncardiac symptoms can act as pointers for specific diagnoses,including ocular lesions.Understanding the manifestation outside the heart helps us diagnose the hypertrophic cardiomyopathy.