扩张型心肌病的遗传学。
The genetics of dilated cardiomyopathy.
机构信息
Department of Medicine and Human Genetics, The University of Chicago, Chicago, Illinois 60637, USA.
出版信息
Curr Opin Cardiol. 2010 May;25(3):198-204. doi: 10.1097/HCO.0b013e328337ba52.
PURPOSE OF REVIEW
More than 40 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 cause can usually not be discerned from the cardiac and/or extracardiac manifestations and requires molecular genetic diagnosis for prognostic determination and cardiac care.
RECENT FINDINGS
Newer technologies are influencing genetic testing, especially cardiomyopathy genetic testing, wherein an increased number of genes are now routinely being tested simultaneously. Although 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.
SUMMARY
Genetic testing is highly useful in the care of patients and families, as 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.
目的综述
已有 40 多种不同的个体基因被认为与扩张型心肌病的遗传有关。对于其中一些基因，突变可导致心肌病谱扩展，包括肥厚型心肌病和左室心肌致密化不全。在几乎所有情况下，心律失常的风险都会增加。对于某些基因突变，很可能存在心脏外表现。确切的遗传原因通常无法从心脏和/或心脏外表现中确定，需要进行分子遗传学诊断以确定预后和心脏护理。
最新研究发现
新技术正在影响基因检测，尤其是心肌病基因检测，现在通常同时对更多的基因进行常规检测。虽然这种同时检测多个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导致了大量意义不明的遗传信息。
总结
基因检测在患者和家庭的护理中非常有用，因为它可以指导诊断、影响护理并有助于预后。然而，大量的良性人类遗传变异可能使遗传结果复杂化，通常需要一支熟练的团队来准确解释这些发现。
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