Genotype-phenotype correlations in familial hypertrophic cardiomyopathy - A comparison between mutations in the cardiac protein-C and the beta-myosin heavy chain genes
Genotype-phenotype correlations in familial hypertrophic cardiomyopathy - A comparison between mutations in the cardiac protein-C and the beta-myosin heavy chain genes
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DOI：
10.1053/euhj.1997.0575
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发表时间：
1998-01-01
影响因子：
39.3
通讯作者：
Komajda, M
中科院分区：
文献类型：
--
作者：
Charron, P;Dubourg, O;Komajda, M
背景。11号染色体上与家族性肥厚性心肌病有关的基因最近被确定为心肌肌球蛋白结合蛋白- c （MyBP-C）基因。这里描述了与该基因突变相关的两个家族的表型，并与β -肌球蛋白重链基因突变的五个家族的表型进行了比较。方法与结果。在携带MyBP-C基因剪接受体位点突变的成人（n=33）中，家族性肥厚性心肌病的外显率不完全（69%），心室肥厚为轻度。在分析的37个临床、心电图和超声心动图参数中，与β - mhc组（n=35）的唯一区别是肺动脉收缩How加速时间更短
Background. The gene involved in familial hypertrophic cardiomyopathy on chromosome 11 was recently identified as the cardiac myosin binding protein-C (MyBP-C) gene. The phenotype of two families associated with mutation in this gene is described here and compared to that of five families with mutations in the beta-myosin heavy chain gene.Methods and results. In adults (n=33) bearing a splice acceptor site mutation in the MyBP-C gene, penetrance of familial hypertrophic cardiomyopathy was incomplete (69%) and ventricular hypertrophy mild. Among 37 clinical, electrocardiographic and echocardiographic parameters analysed, the only difference with the beta-MHC group (n=35) was a shorter acceleration time of systolic How in the pulmonary artery (P