Saint Louis University, St. Louis, MO, USA.
Am Fam Physician. 2017 Nov 15;96(10):640-646.
The definition and classification of cardiomyopathy have evolved considerably in recent years. Cardiomyopathy can be separated into primary (genetic, mixed, or acquired) and secondary categories, which result in varied phenotypes including dilated, hypertrophic, and restrictive patterns. Hypertrophic cardiomyopathy is the most common primary cardiomyopathy and can cause exertional dyspnea, presyncope, atypical chest pain, heart failure, and sudden cardiac death. Dilated cardiomyopathy can be genetic or acquired and typically presents with classic symptoms of heart failure with reduced ejection fraction. Restrictive cardiomyopathy is much less common and often associated with systemic disease. Family physicians should be alert for acquired variants of cardiomyopathy, including peripartum and stress-induced cardiomyopathy, as well as rare variants, such as arrhythmogenic right ventricular dysplasia and left ventricular noncompaction. In addition to history and physical examination, diagnosis of cardiomyopathy includes electrocardiography and echocardiography testing. Treatment may include appropriately staged therapy for heart failure, appropriate activity restriction, evaluation for implantable cardioverter-defibrillator placement, and consideration of heart transplantation in refractory cases. Genetic testing of families is an emerging modality with some potential to augment traditional screening performed by family physicians.
近年来，心肌病的定义和分类发生了很大的变化。心肌病可分为原发性（遗传、混合或获得性）和继发性，导致不同的表型，包括扩张型、肥厚型和限制型。肥厚型心肌病是最常见的原发性心肌病，可导致运动时呼吸困难、晕厥前、非典型胸痛、心力衰竭和心源性猝死。扩张型心肌病可为遗传性或获得性，通常表现为射血分数降低的心力衰竭的典型症状。限制型心肌病则较为少见，常与系统性疾病相关。家庭医生应警惕获得性心肌病变异型，包括围产期和应激性心肌病，以及罕见的变异型，如致心律失常性右室心肌病和左室致密化不全。除了病史和体格检查，心肌病的诊断还包括心电图和超声心动图检查。治疗可能包括心力衰竭的分级治疗、适当的活动限制、评估植入式心脏复律除颤器的放置，以及在难治性病例中考虑心脏移植。对家族进行基因检测是一种新兴的方法，具有一定潜力增强家庭医生进行的传统筛查。
