Mutation profile of FLNC gene and its prognostic relevance in patients with hypertrophic cardiomyopathy.
Mutation profile of FLNC gene and its prognostic relevance in patients with hypertrophic cardiomyopathy.
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肥厚型心肌病患者FLNC基因突变及其与预后的相关性
DOI：
10.1002/mgg3.488
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发表时间：
2018-11
影响因子：
2
通讯作者：
Wang S
中科院分区：
文献类型：
--
作者：
Cui H;Wang J;Zhang C;Wu G;Zhu C;Tang B;Zou Y;Huang X;Hui R;Song L;Wang S
据报道，细丝蛋白C（FLNC）突变是HCM的一个原因，具有很高的心脏性猝死概率。然而，FLNC的突变谱及其与HCM表型表达的关系仍有待阐明。本研究对540例HCM患者和307例健康对照者的FLNC基因进行了测序。我们发现39例（7.2%）患者携带FLNC突变，与对照组（4.2%，p = 0.101）的频率相似。家系分析显示突变与HCM没有很好的分离。HCM患者之间的基线特征，有和没有突变，是可比的。在4.7 ± 3.2年的随访期间，FLNC突变未增加HCM患者的全因死亡率（HR 0.746，95% CI 0.222-2.295，p = 0.575）或心源性死亡率（HR 0.615，95% CI 0.153-1.947，p = 0.354）的风险。此外，无心脏骤停（HR 0.721，95% CI 0.128-3.667，p = 0.660）和心力衰竭（HR 0.757，95% CI 0.318-1.642，p = 0.447）的生存率无显著差异。 FLNC突变在HCM患者和健康人群中均常见。在HCM患者中检测到的FLNC突变的致病性及其与临床结局的相关性应谨慎解释。
Filamin C (FLNC) mutation was reported as a cause of HCM, with a high probability of sudden cardiac death. However, the mutation profile of FLNC, and its relationship with phenotypic expression in HCM, remains to be elucidated. In this study, FLNC gene was sequenced in 540 HCM patients and 307 healthy controls. We found that 39 (7.2%) patients carried FLNC mutations, with a similar frequency to that of controls (4.2%, p = 0.101). Pedigree analysis showed that mutations were not well segregated with HCM. The baseline characteristics between HCM patients, with and without mutations, were comparable. FLNC mutations did not increase the risk for either all‐cause mortality (HR 0.746, 95% CI 0.222–2.295, p = 0.575) or cardiac mortality (HR 0.615, 95% CI 0.153–1.947, p = 0.354) in HCM patients during a follow‐up of 4.7 ± 3.2 years. Moreover, there was no significant difference in survival free from sudden cardiac arrest (HR 0.721, 95% CI 0.128–3.667, p = 0.660) and heart failure (HR 0.757, 95% CI 0.318–1.642, p = 0.447). FLNC mutations were common in both HCM patients and healthy population. The pathogenicity of FLNC mutations detected in HCM patients and its association with the clinical outcomes should be cautiously interpreted.
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