Sarcomere Protein Gene Mutations in Patients With Apical Hypertrophic Cardiomyopathy
Sarcomere Protein Gene Mutations in Patients With Apical Hypertrophic Cardiomyopathy
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DOI：
10.1161/circgenetics.110.958835
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发表时间：
2011-06-01
影响因子：
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通讯作者：
Rakowski, Harry
中科院分区：
文献类型：
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作者：
Gruner, Christiane;Care, Melanie;Rakowski, Harry
背景：心尖肥厚性心肌病（HCM）是一种独特的HCM形式，左心室肥厚局限于心尖。本研究的目的是报道一系列不相关的根尖HCM患者的遗传发现，并将其与非根尖HCM队列进行比较。方法和结果：总共有429例HCM患者进行了基因检测。包括8个肌节蛋白基因和3个其他基因（GLA、PRKAG2、LAMP2）。61例患者被诊断为根尖HCM。8例根尖HCM患者基因型阳性。基因型阳性和基因型阴性患者的最大壁厚相似（17.5 +/- 3.5 mm vs 17.6 +/- 3.3 mm, P = 0.71）， hcm相关事件发生频率相似（2/8;25% vs 13/53; 25%; P = 0.98）。13%的根尖HCM患者和40%的非根尖HCM患者基因型阳性（P < 0.001），最常涉及MYBPC3和MYH7基因。结论：与非根尖型HCM相比，根尖型HCM的阳性基因型较少，且最常涉及MYBPC3和MYH7基因。只有13%的根尖HCM患者被发现为基因型阳性，这表明需要进行全基因组关联研究和基因表达谱分析，以更好地了解该疾病的遗传背景。在我们的队列中，根尖型HCM没有显著的基因型-表型相关性。（中国心血管病杂志，2011;4:288-295）
Background-Apical hypertrophic cardiomyopathy (HCM) is a unique form of HCM with left ventricular hypertrophy confined to the cardiac apex. The purpose of our study was to report genetic findings in a large series of unrelated patients with apical HCM and compare them with a nonapical HCM cohort.Methods and Results-Overall, 429 patients with HCM underwent genetic testing. The panel included 8 sarcomere protein genes and 3 other genes (GLA, PRKAG2, and LAMP2). Sixty-one patients were diagnosed with apical HCM. A positive genotype was found in 8 patients with apical HCM. The genotype-positive and genotype-negative patients had similar maximal wall thicknesses (17.5 +/- 3.5 mm versus 17.6 +/- 3.3 mm, P = 0.71) and similar frequency of HCM-related events (2/8; 25% versus 13/53; 25%; P = 0.98). Thirteen percent with apical HCM and 40% with nonapical HCM had a positive genotype (P < 0.001) most often involving the MYBPC3 and MYH7 genes.Conclusions-In apical HCM, a positive genotype was found less frequently than in nonapical HCM, and it was most often involving MYBPC3 and MYH7 genes. Only 13% of patients with apical HCM were found to be genotype positive, indicating that genome-wide association studies and gene expression profiling are needed for better understanding of the genetic background of the disease. There was no significant genotype-phenotype correlation in our cohort with apical HCM. (Circ Cardiovasc Genet. 2011;4:288-295.)