Lamin A/C mutation is independently associated with an increased risk of arterial and venous thromboembolic complications
Lamin A/C mutation is independently associated with an increased risk of arterial and venous thromboembolic complications
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DOI：
10.1016/j.ijcard.2012.09.118
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发表时间：
2013-09-20
影响因子：
3.5
通讯作者：
Pinto-Sietsma, Sara-Joan
中科院分区：
文献类型：
--
作者：
van Rijsingen, Ingrid A. W.;Bakker, Annemieke;Pinto-Sietsma, Sara-Joan
背景：LMNA突变携带者具有多种临床表型，包括扩张型心肌病(DCM)。虽然有人认为携带者有血栓栓塞症并发症的风险，但尚不清楚这种风险是否高于潜在的心脏异常所能预期的风险。这项研究的目的是确定LMNA突变是否与血栓栓塞并发症的风险增加相关。方法：我们比较了76名LMNA突变携带者和224名没有LMNA突变的特发性DCM患者的动脉和静脉血栓并发症的发生率。此外，我们进行了一项病例对照研究，以探讨无DCM或房性快速心律失常的LMNA突变携带者(n=14)是否存在血栓前表型，并与突变阴性亲属(n=13)进行比较。结果：LMNA突变携带者的血栓栓塞症并发症发生率高于DCM患者(22vs11%；P
Background: Lamin A/C (LMNA) mutation carriers suffer from a variety of clinical phenotypes, including dilated cardiomyopathy (DCM). Although it has been suggested that carriers are at risk for thromboembolic complications, it is unknown whether this risk is higher than can be expected from the underlying cardiac abnormalities. The purpose of this study was to determine whether a LMNA mutation is associated with an increased risk of thromboembolic complications.Methods: We compared a cohort of 76 LMNA mutation carriers with a cohort of 224 idiopathic DCM patients without a LMNA mutation, with respect to the prevalence of arterial and venous thromboembolic complications. Furthermore, we carried out a case-control study to explore whether a prothrombotic phenotype was present in LMNA mutation carriers without DCM or atrial tachyarrhythmias (n=14) and compared this with mutation negative relatives (n=13).Results: The prevalence of thromboembolic complications was higher in the cohort of LMNA mutation carriers than in DCM patients (22 vs 11%; p