A novel mutation in LAMIN A/C is associated with isolated early-onset atrial fibrillation and progressive atrioventricular block followed by cardiomyopathy and sudden cardiac death.
A novel mutation in LAMIN A/C is associated with isolated early-onset atrial fibrillation and progressive atrioventricular block followed by cardiomyopathy and sudden cardiac death.
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DOI：
10.1016/j.hrthm.2009.01.037
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发表时间：
2009-05
期刊：
影响因子：
5.5
通讯作者：
Garg, Vidu
中科院分区：
文献类型：
--
作者：
Pan, Hubert;Richards, Ashleigh A.;Zhu, Xiaohui;Jogtar, Jose A.;Yin, Helen L.;Garg, Vidu
关键词：
我们确定了一个跨越三代的常染色体显性遗传性心脏病汉族人家族，其中有15名受累成员(图1A)。这种疾病在40岁以上的家庭成员中是100%穿透的，没有成员表现出肌肉营养不良或其他器官系统受累，这在其他椎板病中通常被描述。7临床病史汇总于图1B，通过查阅现有病历、详细的家族史和以前的病例报告而获得。8以房颤为主的室性心动过缓(心率65次/分钟)，中位年龄42岁(图1B)。对于有详细信息的个人，房颤不需要抗心律失常药物，除了III-2和III-9，他们接受了异丙吡胺治疗(图1B)。房室传导速度较轻
We identified a family of Han Chinese ancestry spanning 3 generations with autosomal-dominant cardiac disease that had 15 affected members (Figure 1 A). The disease was 100% penetrant in family members over 40 years of age, and no members showed muscular dystrophy or other organ system involvement, as commonly described in other laminopathies. 7 Clinical histories are summarized in Figure 1 B and were obtained by review of available medical records, detailed family histories, and a previous case report. 8 The predominant disease presentation consisted of AF with a slow ventricular response (heart rate 65 beats/min) at a median age of 42 years (Figure 1 B). For individuals in whom detailed information was available, the AF did not require antiarrhythmic medications except for III-2 and III-9, who were treated with disopyramide (Figure 1 B). Milder degrees of AVB
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影响因子：
120.7
作者：
Olson, TM;Michels, VV;Anderson, JL
通讯作者：
Anderson, JL
影响因子：
8.3
作者：
WOLF, PA;ABBOTT, RD;KANNEL, WB
通讯作者：
KANNEL, WB
影响因子：
4.7
作者：
van Berlo, JH;de Voogt, WG;Pinto, YM
通讯作者：
Pinto, YM
影响因子：
--
作者：
MacLeod HM;Culley MR;Huber JM;McNally EM
通讯作者：
McNally EM
影响因子：
30.8
作者：
Bonne, G;Di Barletta, MR;Schwartz, K
通讯作者：
Schwartz, K