先天性心脏病和心肌病的临床基因与基因组检测
Clinical Genetic and Genomic Testing in Congenital Heart Disease and Cardiomyopathy.
作者信息
Pidaparti Mahati, Geddes Gabrielle C, Durbin Matthew D
机构信息
Division of Neonatal-Perinatal Medicine, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
出版信息
J Clin Med. 2024 Apr 26;13(9):2544. doi: 10.3390/jcm13092544.
Congenital heart disease (CHD) and cardiomyopathies are the leading cause of morbidity and mortality worldwide. These conditions are often caused by genetic factors, and recent research has shown that genetic and genomic testing can provide valuable information for patient care. By identifying genetic causes, healthcare providers can screen for other related health conditions, offer early interventions, estimate prognosis, select appropriate treatments, and assess the risk for family members. Genetic and genomic testing is now the standard of care in patients with CHD and cardiomyopathy. However, rapid advances in technology and greater availability of testing options have led to changes in recommendations for the most appropriate testing method. Several recent studies have investigated the utility of genetic testing in this changing landscape. This review summarizes the literature surrounding the clinical utility of genetic evaluation in patients with CHD and cardiomyopathy.
先天性心脏病（CHD）和心肌病是全球发病和死亡的主要原因。这些病症通常由遗传因素引起，最近的研究表明，基因和基因组检测可为患者护理提供有价值的信息。通过确定遗传原因，医疗保健提供者可以筛查其他相关健康状况，提供早期干预，估计预后，选择合适的治疗方法，并评估家庭成员的风险。基因和基因组检测现已成为CHD和心肌病患者的护理标准。然而，技术的快速发展和检测选项的更多可用性导致了关于最合适检测方法的建议发生了变化。最近的几项研究调查了基因检测在这种不断变化的情况下的效用。本综述总结了有关CHD和心肌病患者基因评估临床效用的文献。
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