Genetics and clinical destiny: improving care in hypertrophic cardiomyopathy.
Genetics and clinical destiny: improving care in hypertrophic cardiomyopathy.
复制标题
DOI：
10.1161/circulationaha.110.978924
复制
发表时间：
2010-12-07
期刊：
影响因子：
37.8
通讯作者：
Ho CY
中科院分区：
文献类型：
--
作者：
Ho CY
2430临床基因检测可在http：//www. ncbi. nlm。nih。gov/sites/GeneTests/？dbGeneTests。大约65%患有家族性HCM的成人和儿童患者以及大约40%患有不明原因LVH但没有疾病家族史的患者中发现了肌节突变。3-7除了这些成熟的肌节基因外，其他肌节相关基因的突变也被报道与HCM相关，包括心肌肌钙蛋白C（TNNC 1）、z盘成分telethonin（TCAP）和肌肉LIM蛋白（CRP 3）。8-10这些基因的突变非常罕见，仅在少数孤立的先证者中发现。由于缺乏严格的遗传支持，它们尚未被明确证明是致病的。没有临床基因检测。
2430 clinical genetic testing can be obtained at http://www. ncbi. nlm. nih. gov/sites/GeneTests/? dbGeneTests. Sarcomere mutations are found in approximately 65% of adult and pediatric patients with familial HCM and approximately 40% of patients with unexplained LVH but no family history of disease. 3–7 In addition to these well-established sarcomere genes, mutations in other sarcomere-associated genes have been reported in association with HCM, including cardiac troponin C (TNNC1), z-disc components telethonin (TCAP), and muscle LIM protein (CRP3). 8–10 Mutations in these genes are extremely rare—identified in only a small number of isolated probands. Due to the lack of rigorous genetic support, they have not yet been definitively demonstrated to be diseasecausing. Clinical genetic testing is not available.