原发性心肌病诊断新路径:从高分辨影像到分子精准医学

New Clinical Diagnostic Pathway of Primary Cardiomyopathy: from High-resolution Imaging to Molecular Precision Medicine

原发性心肌病的既往定义是一大类未明原因造成的心肌直接异常,而非继发于缺血、高血压、糖尿病、甲状腺功能亢进等因素。其临床诊断路径局限于描述心肌损害以后造成的心脏结构与功能异常,如扩张、肥厚、限制以及收缩性或舒张性心力衰竭等。随着诊断技术的进步,尤其是高分辨影像技术和分子精准医学的突破性进展,先前的原发性心肌病定义以及诊断路径已不能满足临床需求。新时代下,具有条件的大型医学中心应采用新的临床诊断路径,其内容涵盖高分辨影像与遗传学分析,可为原发性心肌病提供更为充分的影像与精准医学信息,并为后续的影像组学分析、基因治疗、靶向药物研发、遗传学咨询等创造条件。

Primary cardiomyopathies were previously defined as primary myocardial disorders of unknown causes,in which the secondary effect of ischemia,hypertension,diabetes,and hyperthyroidism,etc. was excluded. The clinical diagnostic pathway was limited to describing the structural and functional abnormalities,such as dilatation,hypertrophy,restrictive cardiomyopathies,and systolic or diastolic heart failure. With the progression of diagnostic techniques,especially of high-resolution imaging and molecular precision medicine,the previous definition and pathway cannot satisfy clinical demands. Accordingly,large medical centers with sufficient equipment should adopt a new clinical diagnostic pathway including high-resolution imaging and genetic analysis in the new era,which would supply more precise information of cardiac images and particular genetic abnormalities. This new pathway will greatly help the radiomics analysis,gene therapy,the development of targeted drugs,and genetic counseling for patients with cardiomyopathies.