Romano R, Parisi V, Pastore F, Riccio A, Petraglia L, Allocca E, Leosco D
Department of Surgery and Cancer, Imperial College London.
Transl Med UniSa. 2013 May 6;6:35-40. eCollection 2013.
The advanced knowledge about genetic diseases and their mutations has widened the possibility to have a more precise and definitive diagnosis in many patients, but the use of genetic testing is still controversial. Actually, many cardiomyopathies show the availability of genetic testing. The clinical utility of this testing has been widely debated, but it is evident that the use of genetics must be put in a more organic diagnostic pathway that includes the evaluation of risks and benefits for the patient and his relatives, as well as the costs of the procedure. This review aims to clarify the role of genetic in clinics regarding Channelopaties, less frequent but equally important than other Cardiomyopathies because patients can often be asymptomatic until the first fatal manifestation.
关于遗传疾病及其突变的先进知识拓宽了在许多患者中进行更精确和明确诊断的可能性，但基因检测的应用仍存在争议。实际上，许多心肌病都具备进行基因检测的条件。这种检测的临床实用性一直备受广泛讨论，但很明显，基因检测的应用必须置于一个更系统的诊断路径中，该路径应包括评估对患者及其亲属的风险和益处，以及检测程序的成本。本综述旨在阐明基因检测在临床上对于离子通道病的作用，离子通道病虽不如其他心肌病常见，但同样重要，因为患者在首次出现致命症状之前通常可能没有症状。
