Hypertrophic cardiomyopathy(HCM)is one of the most common inherited cardiovascular diseases,with a global prevalence estimated at 0.2%to 0.5%.1 It is characterized by left ventricular hypertrophy which could not be ex...Hypertrophic cardiomyopathy(HCM)is one of the most common inherited cardiovascular diseases,with a global prevalence estimated at 0.2%to 0.5%.1 It is characterized by left ventricular hypertrophy which could not be explained by abnormal loading conditions,and a considerable proportion of patients were accompanied by either resting or inducible left ventricular outflow tract(LVOT)obstruction,leading to impaired cardiac function,mitral regurgitation due to systolic anterior motion(SAM)condition,with subsequent reduced quality of life,adverse clinical outcomes or even sudden death(Supplementary Text 1 online).2 HCM was previously believed to exhibit an autosomal dominant inheritance pattern,typically caused by pathogenic mutations in genes encoding sarcomeric proteins,with MYBPC3 and MYH7 being the most commonly involved genes.3 However,about 60%of all patients test negative for sarcomeric variants,4 suggesting a possible polygenic inheritance pattern in these patients and the contribution of non-genetic factors on disease phenotype(Supplementary Text 2 online).展开更多
基金supported by the National Natural Science Foundation of China(82460073)the National Key Research and Development Program(2022YFC2503400)+1 种基金the Major Science and Technology Special Plan Project of Yunnan Province(202302AA310045)the Talent Trusteeship Program of Fuwai Yunnan Hospital(2024RCTJ-QN008).
文摘Hypertrophic cardiomyopathy(HCM)is one of the most common inherited cardiovascular diseases,with a global prevalence estimated at 0.2%to 0.5%.1 It is characterized by left ventricular hypertrophy which could not be explained by abnormal loading conditions,and a considerable proportion of patients were accompanied by either resting or inducible left ventricular outflow tract(LVOT)obstruction,leading to impaired cardiac function,mitral regurgitation due to systolic anterior motion(SAM)condition,with subsequent reduced quality of life,adverse clinical outcomes or even sudden death(Supplementary Text 1 online).2 HCM was previously believed to exhibit an autosomal dominant inheritance pattern,typically caused by pathogenic mutations in genes encoding sarcomeric proteins,with MYBPC3 and MYH7 being the most commonly involved genes.3 However,about 60%of all patients test negative for sarcomeric variants,4 suggesting a possible polygenic inheritance pattern in these patients and the contribution of non-genetic factors on disease phenotype(Supplementary Text 2 online).
