Mutation of the A / C lamina gene associated with apical hypoplasia of the left ventricle: a new laminopathy phenotype?
Mutation of the A / C lamina gene associated with apical hypoplasia of the left ventricle: a new laminopathy phenotype?
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DOI：
10.1714/1718.18778
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发表时间：
2014-12-01
影响因子：
0.5
通讯作者：
Visconti, Luigi Oltrona
中科院分区：
文献类型：
--
作者：
Pica, Silvia;Ghio, Stefano;Visconti, Luigi Oltrona
孤立性左心室（LV）尖顶发育不全是一种罕见的异常，其特征是左心室功能异常，呈球形，右心室拉长，环绕着缺陷的左心室尖顶。病因不明；它被认为是一种罕见的先天性发育缺陷在划分脑室，引起的子宫内感染。我们首次描述了一例孤立的左室顶端发育不全与纤层蛋白a /C基因突变相关。超声心动图显示左心室轻度扩张，呈球形，收缩功能受损，右心室拉长，包裹着缺陷的左室心尖。磁共振成像还发现左室尖肌的脂肪替代。晚期钆增强成像显示室间隔中壁纤维化。通过心电图和超声心动图进行家庭筛查未能识别患者家庭中的心脏病；然而，先证者的父亲和女儿被发现携带相同的突变。本病例报告强调了在单个心肌病患者中正确解释基因突变的困难。事实上，突变的致病作用需要通过共分离分析来证实。尽管左心室尖发育不全的病因尚不清楚，第一种假说是一种干扰心脏早期发育的后天过程，而新的假说是一种遗传缺陷。
Isolated left ventricular (LV) apical hypoplasia is a rare anomaly characterized by a dysfunctioning, spherical left ventricle and elongated right ventricle wrapping around the deficient LV apex. The etiology is unknown; it is presumed to be a rare congenital developmental defect during partitioning of the ventricles, caused by an in-utero infection. We describe for the first time a case of isolated LV apical hypoplasia associated with lamin A/C gene mutation.Echocardiography showed a mildly dilated left ventricle with spherical configuration and impaired systolic function, and an elongated right ventricle wrapping around the deficient LV apex. Magnetic resonance imaging also identified fatty replacement of the LV apical myocardium. Late gadolinium enhancement imaging showed mid-wall fibrosis in the interventricular septum.Family screening by ECG and echocardiography failed to identify heart disease in the patient's family; however, the proband's father and daughter were found to carry the same mutation.This case report highlights the difficulties of a correct interpretation of genetic mutations in a single patient with cardiomyopathy. Indeed, the causative role of a mutation needs to be confirmed by co-segregation analysis. Although the etiology of LV apical hypoplasia remains unknown, the first hypothesis is an acquired process interfering with the early development of the heart, the new one is a genetic defect.