The genetics of dilated cardiomyopathy.
The genetics of dilated cardiomyopathy.
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DOI：
10.1097/hco.0b013e328337ba52
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发表时间：
2010-05
影响因子：
2.3
通讯作者：
McNally EM
中科院分区：
文献类型：
--
作者：
Dellefave L;McNally EM
超过40种不同的个体基因与扩张性心肌病的遗传有关。对于这些基因的一个子集，突变可导致一系列心肌病，延伸到肥厚性心肌病和左心室不致密化。在几乎所有的病例中，心律失常的风险都会增加。由于某些基因突变，可能会出现心外表现。确切的遗传病因通常不能从心脏和/或心外表现中辨别出来，需要分子遗传学诊断来确定预后和心脏护理。新技术正在影响基因检测，特别是心肌病基因检测，其中越来越多的基因现在经常同时进行检测。虽然这种检测多基因的方法提高了诊断率，但在一次检测中分析多个基因也会产生大量意义不明确的遗传信息。基因检测在病人和家属的护理中非常有用，因为它指导诊断，影响护理和帮助预后。然而，大量的良性人类遗传变异可能会使遗传结果复杂化，并且通常需要一个熟练的团队来准确地解释研究结果。
More than forty different individual genes have been implicated in the inheritance of dilated cardiomyopathy. For a subset of these genes, mutations can lead to a spectrum of cardiomyopathy that extends to hypertrophic cardiomyopathy and left ventricular noncompaction. In nearly all cases, there is an increased risk of arrhythmias. With some genetic mutations, extracardiac manifestations are likely to be present. The precise genetic etiology can usually not be discerned from the cardiac and/or extracardiac manifestations and requires molecular genetic diagnosis for prognostic determination and cardiac care. Newer technologies are influencing genetic testing, especially cardiomyopathy genetic testing, where an increased number of genes are now routinely being tested simultaneously. While this approach to testing multiple genes is increasing the diagnostic yield, the analysis of multiple genes in one test is also resulting in a large amount of genetic information of unclear significance. Genetic testing is highly useful in the care of patients and families, since it guides diagnosis, influences care and aids in prognosis. However, the large amount of benign human genetic variation may complicate genetic results, and often requires a skilled team to accurately interpret the findings.