Late gadolinium enhanced cardiovascular magnetic resonance of lamin A/C gene mutation related dilated cardiomyopathy.
Late gadolinium enhanced cardiovascular magnetic resonance of lamin A/C gene mutation related dilated cardiomyopathy.
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DOI：
10.1186/1532-429x-13-30
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发表时间：
2011-06-20
期刊：
影响因子：
--
通讯作者：
Lauerma K
中科院分区：
文献类型：
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作者：
Holmström M;Kivistö S;Heliö T;Jurkko R;Kaartinen M;Antila M;Reissell E;Kuusisto J;Kärkkäinen S;Peuhkurinen K;Koikkalainen J;Lötjönen J;Lauerma K
本研究旨在通过心血管磁共振（CMR）研究核纤层蛋白A/C基因突变相关的扩张型心肌病（DCM）的早期特征。我们观察核纤层蛋白A/C突变携带者的心肌和功能发现，以便于使用这种方法识别这些患者。我们还研究了心肌纤维化和传导异常之间的联系。17例核纤层蛋白A/C突变携带者接受了CMR。采用延迟增强（LGE）和电影图像评价心肌纤维化、节段性室壁运动、纵向心肌功能、整体功能和双心室容积。目测左心室心肌增强的位置、模式和程度。88%的患者有左室心肌纤维化。节段性室壁运动异常与增强程度密切相关。心肌增强与传导异常有关。在我们的总体心室分析中，69%的无症状或轻度症状患者显示轻度心室扩张、收缩功能衰竭或两者兼而有之。在53%的患者中观察到纵向收缩LV功能降低。心肌细胞核纤层蛋白A/C基因突变引起的扩张型心肌病中常见心脏传导异常、左室轻度扩张和收缩功能障碍。然而，其他心脏病可能会产生类似的症状。CMR是确定核纤层蛋白A/C型心肌病典型心脏受累的准确工具，可能有助于对这种恶性常见形式的DCM进行早期治疗。
The purpose of this study was to identify early features of lamin A/C gene mutation related dilated cardiomyopathy (DCM) with cardiovascular magnetic resonance (CMR). We characterise myocardial and functional findings in carriers of lamin A/C mutation to facilitate the recognition of these patients using this method. We also investigated the connection between myocardial fibrosis and conduction abnormalities. Seventeen lamin A/C mutation carriers underwent CMR. Late gadolinium enhancement (LGE) and cine images were performed to evaluate myocardial fibrosis, regional wall motion, longitudinal myocardial function, global function and volumetry of both ventricles. The location, pattern and extent of enhancement in the left ventricle (LV) myocardium were visually estimated. Patients had LV myocardial fibrosis in 88% of cases. Segmental wall motion abnormalities correlated strongly with the degree of enhancement. Myocardial enhancement was associated with conduction abnormalities. Sixty-nine percent of our asymptomatic or mildly symptomatic patients showed mild ventricular dilatation, systolic failure or both in global ventricular analysis. Decreased longitudinal systolic LV function was observed in 53% of patients. Cardiac conduction abnormalities, mildly dilated LV and depressed systolic dysfunction are common in DCM caused by a lamin A/C gene mutation. However, other cardiac diseases may produce similar symptoms. CMR is an accurate tool to determine the typical cardiac involvement in lamin A/C cardiomyopathy and may help to initiate early treatment in this malignant familiar form of DCM.