心肌病评估

心肌病是一组异质性较高的重要的心脏肌肉疾病，发病率和病死率均较高。[1]Maron BJ, Towbin JA, Thiene G, et al. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation. 2006;113:1807-1816. http://circ.ahajournals.org/content/113/14/1807.full.pdf+html http://www.ncbi.nlm.nih.gov/pubmed/16567565?tool=bestpractice.com 心肌病与心脏机械活动和/或电活动失常相关。 常有不适当的心肌肥厚和心脏扩大。[1]Maron BJ, Towbin JA, Thiene G, et al. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation. 2006;113:1807-1816. http://circ.ahajournals.org/content/113/14/1807.full.pdf+html http://www.ncbi.nlm.nih.gov/pubmed/16567565?tool=bestpractice.com 心肌病包括有心脏自身原因（原发性心肌病）和其他原因（继发性心肌病）导致的心脏损害。 引起心肌病的原因很广泛，但原发性心肌病最主要是遗传因素。 并发症包括心血管死亡、进行性心力衰竭以及心肌病相关的致残。[1]Maron BJ, Towbin JA, Thiene G, et al. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation. 2006;113:1807-1816. http://circ.ahajournals.org/content/113/14/1807.full.pdf+html http://www.ncbi.nlm.nih.gov/pubmed/16567565?tool=bestpractice.com

分类

1995年，世界卫生组织/国际心脏病联盟将心肌病定义为原发性心肌异常，而有明确病因的心脏肌肉疾病或系统性疾病相关的则为继发性或特异性心肌病。[2]Richardson P, McKenna W, Bristow M, et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies. Circulation. 1996 Mar 1;93(5):841-2. http://circ.ahajournals.org/content/93/5/841.full http://www.ncbi.nlm.nih.gov/pubmed/8598070?tool=bestpractice.com 然而随着研究的进展，对心肌病的认识也不断深入，大西洋两岸联盟对心肌病提出了一个新的、与以前不同的分类系统。

欧洲心脏病（ESA）协会心肌和心包疾病组曾建议使用临床而不是基因分类。然而，心肌疾病分类主要依据形态和功能原则：“心肌病是基于心脏肌肉结构和功能异常的疾病，除外由冠状动脉疾病、高血压、瓣膜病及先天性心脏病等原因导致的所观察到的心脏异常”。[3]Elliott P, Andersson B, Arbustini E, et al. Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2008;29:270-276. http://eurheartj.oxfordjournals.org/content/29/2/270.long http://www.ncbi.nlm.nih.gov/pubmed/17916581?tool=bestpractice.com 其成员认为在很多原发性心肌病有复杂的心外表现，而在很多继发性心肌病可能以心脏受累作为主要表现。[Figure caption and citation for the preceding image starts]: 可导致心肌病的疾病Elliott P, Andersson B, Arbustini E, et al. Classification of the cardiomyopathies: a position statement from the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases.Eur Heart J. 2008;29:270-276. 经许可后使用。 [Citation ends].

美国心脏病联盟（AHA）的科学声明将心肌病定义为“心肌病是一类与心脏机械和/或电活动异常相关的异质性疾病，通常（并非一定）表现为不恰当的心室肥厚或扩张。病因较多，多与遗传相关。 心肌损害局限于心脏或为全身多系统功能障碍的一部分，常导致心血管死亡或进展为与心力衰竭相关的功能障碍”。[1]Maron BJ, Towbin JA, Thiene G, et al. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation. 2006;113:1807-1816. http://circ.ahajournals.org/content/113/14/1807.full.pdf+html http://www.ncbi.nlm.nih.gov/pubmed/16567565?tool=bestpractice.com

• 原发性心肌病是指损害主要局限于心脏肌肉的疾病，分类包括遗传性、混合性和获得性心肌病。

• 继发性心肌病是指全身系统性损害或多器官功能障碍导致心脏损害的心肌疾病。

需要强调的是，传统的心肌病分类（肥厚型、扩张型、限制型心肌病）是将解剖和功能相结合的结果，彼此间可以重叠。[Figure caption and citation for the preceding image starts]: 已提出的分类系统Elliott P, Andersson B, Arbustini E, et al. Classification of the cardiomyopathies: a position statement from the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases.Eur Heart J. 2008;29:270-276. 经许可后使用。 [Citation ends].

美国心脏协会于 2019 年发表了一份单独的科学声明，涵盖了儿童心肌病的分类和诊断。[4]Lipshultz SE, Law YM, Asante-Korang A, et al. Cardiomyopathy in Children: Classification and Diagnosis: A Scientific Statement From the American Heart Association. Circulation. 2019 Jul 2;140(1):e9-e68. https://www.ahajournals.org/doi/full/10.1161/CIR.0000000000000682 http://www.ncbi.nlm.nih.gov/pubmed/31132865?tool=bestpractice.com 这有利于主要根据结构和功能表型（构成诊断和管理的基础）对小儿病例进行分类，遗传和非遗传病因为较低级别的子类别。