Cardiomyopathy, familial dilated.
Cardiomyopathy, familial dilated.
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DOI：
10.1186/1750-1172-1-27
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发表时间：
2006-07-13
影响因子：
3.7
通讯作者：
Mestroni L
中科院分区：
文献类型：
--
作者：
Taylor MR;Carniel E;Mestroni L
扩张型心肌病（DCM）是一种以心室扩张和收缩功能受损为特征的心肌疾病。DCM患者患有心力衰竭、心律失常，并有过早死亡的风险。DCM的患病率为每2500人中有1例，发病率为7/100，000/年（但可能诊断不足）。在许多情况下，这种疾病是遗传性的，被称为家族性DCM（FDC）。FDC可占DCM的20-48%。FDC主要由编码心肌细胞中细胞骨架和肌节蛋白的FDC基因的遗传突变引起。家族史分析是识别受FDC影响的家庭的重要工具。评价FDC系列的标准标准已经公布，并且此类标准的使用正在增加。临床基因检测已经开发了一些FDC基因，并将越来越多地用于评估FDC家族。通过使用家系分析和/或基因检测的家庭筛查，可以在疾病的早期甚至症状前阶段识别患者。这提供了一个机会，以调用生活方式的改变，并提供药物治疗的疾病过程中的早期。遗传咨询是用来确定其他无症状的家庭成员谁是在发展中国家的症状的风险，允许定期筛查这些人。FDC的管理重点是限制心力衰竭的进展和控制心律失常，并基于目前接受的DCM治疗指南。它包括一般措施（限制盐和液体、治疗高血压、限制酒精摄入、控制体重、适度运动）和药物治疗。心脏起搏器、植入式心律转复器和左心室辅助装置的使用日益扩大。严重心力衰竭、心功能严重减退和左心室射血分数降低的患者存活率低，可能需要心脏移植。
Dilated cardiomyopathy (DCM) is a heart muscle disease characterized by ventricular dilatation and impaired systolic function. Patients with DCM suffer from heart failure, arrhythmia, and are at risk of premature death. DCM has a prevalence of one case out of 2500 individuals with an incidence of 7/100,000/year (but may be under diagnosed). In many cases the disease is inherited and is termed familial DCM (FDC). FDC may account for 20–48% of DCM. FDC is principally caused by genetic mutations in FDC genes that encode for cytoskeletal and sarcomeric proteins in the cardiac myocyte. Family history analysis is an important tool for identifying families affected by FDC. Standard criteria for evaluating FDC families have been published and the use of such criteria is increasing. Clinical genetic testing has been developed for some FDC genes and will be increasingly utilized for evaluating FDC families. Through the use of family screening by pedigree analysis and/or genetic testing, it is possible to identify patients at earlier, or even presymptomatic stages of their disease. This presents an opportunity to invoke lifestyle changes and to provide pharmacological therapy earlier in the course of disease. Genetic counseling is used to identify additional asymptomatic family members who are at risk of developing symptoms, allowing for regular screening of these individuals. The management of FDC focuses on limiting the progression of heart failure and controlling arrhythmia, and is based on currently accepted treatment guidelines for DCM. It includes general measures (salt and fluid restriction, treatment of hypertension, limitation of alcohol intake, control of body weight, moderate exercise) and pharmacotherapy. Cardiac resynchronization, implantable cardioverter defibrillators and left ventricular assist devices have progressively expanding usage. Patients with severe heart failure, severe reduction of the functional capacity and depressed left ventricular ejection fraction have a low survival rate and may require heart transplant.
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影响因子：
37.8
作者：
CODD, MB;SUGRUE, DD;MELTON, LJ
通讯作者：
MELTON, LJ
影响因子：
37.8
作者：
Brodsky, GL;Muntoni, F;Mestroni, L
通讯作者：
Mestroni, L
影响因子：
2.8
作者：
FUSTER, V;GERSH, BJ;FRYE, RL
通讯作者：
FRYE, RL
影响因子：
158.5
作者：
PFEFFER, MA;BRAUNWALD, E;HAWKINS, CM
通讯作者：
HAWKINS, CM
影响因子：
37.8
作者：
McMurray, J;Pfeffer, MA
通讯作者：
Pfeffer, MA