Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain
Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain
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DOI：
10.1136/heartjnl-2014-307205
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发表时间：
2015-07-01
期刊：
影响因子：
5.7
通讯作者：
Monserrat, Lorenzo
中科院分区：
文献类型：
--
作者：
Garcia-Giustiniani, Diego;Arad, Michael;Monserrat, Lorenzo
目的 心肌病的遗传学研究的预后价值仍存在争议。我们的目的是评估 β 肌球蛋白重链 (MYH7) 转换器结构域突变的心肌病患者的结果。方法 将 117 名 MYH7 转换器结构域突变的受影响成员的临床特征和生存率与文献中描述的同一区域突变的 409 名患者进行比较。结果 评估了 25 种突变（我们家族中的 9 种，包括 3 种新突变（Ile730Asn、Asp717Gly 和Arg719Pro))。临床诊断为肥厚型心肌病（n = 407）、扩张型心肌病（n = 15）、非致密化心肌病（n = 4）和限制性心肌病（n = 5）、未明确的心肌病（n = 11）、猝死（n = 50）和35名健康携带者。一百八十四人发生过事件（心血管死亡或移植）。我们患者的中位无事件生存期为 50 +/- 2 年，文献中为 53 +/- 3 年 (p=0.27)。突变之间的结果存在显着差异：Ile736Thr 的事件少于该区域的其他突变 (p=0.01)，而 Arg719Gln (p
Objectives The prognostic value of genetic studies in cardiomyopathies is still controversial. Our objective was to evaluate the outcome of patients with cardiomyopathy with mutations in the converter domain of beta myosin heavy chain (MYH7).Methods Clinical characteristics and survival of 117 affected members with mutations in the converter domain of MYH7 were compared with 409 patients described in the literature with mutations in the same region.Results Twenty-five mutations were evaluated (9 in our families including 3 novel (Ile730Asn, Asp717Gly and Arg719Pro)). Clinical diagnoses were hypertrophic (n=407), dilated (n=15), non-compaction (n=4) and restrictive (n=5) cardiomyopathies, unspecified cardiomyopathy (n=11), sudden death (n=50) and 35 healthy carriers. One hundred eighty-four had events (cardiovascular death or transplant). Median event-free survival was 50 +/- 2 years in our patients and 53 +/- 3 years in the literature (p=0.27). There were significant differences in the outcome between mutation: Ile736Thr had fewer events than other mutations in the region (p=0.01), while Arg719Gln (p