Department of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota.
Cardiology Division, Massachusetts General Hospital, Boston, Massachusetts.
J Am Coll Cardiol. 2018 Mar 13;71(10):1130-1148. doi: 10.1016/j.jacc.2018.01.016.
Restrictive cardiomyopathies are the least common form of heart muscle disease. They are characterized as infiltrative and noninfiltrative, storage diseases, and endomyocardial disorders. Genetic diseases commonly present during childhood or adolescence. However, a growing percentage of elderly patients with heart failure with preserved ejection fraction are being recognized as having forms of restrictive cardiomyopathy, particularly cardiac amyloidosis. Noninvasive evaluation has replaced endomyocardial biopsy in the diagnostic evaluation of most suspected etiologies. The detection of infiltrative cardiomyopathies, including lysosomal and glycogen storage disorders, iron overload, and amyloidosis (both light chain amyloidosis and transthyretin amyloidosis variants), as well as inflammatory diseases such as sarcoidosis has slowly led to improved outcomes via disease-specific therapies.
限制型心肌病是最不常见的心肌疾病形式。它们可分为浸润性和非浸润性、贮积性疾病以及心内膜心肌疾病。遗传性疾病通常在儿童期或青少年期发病。然而,越来越多的射血分数保留的心力衰竭老年患者被认为患有某种形式的限制型心肌病,特别是心脏淀粉样变性。大多数疑似病因的诊断评估已不再采用心内膜心肌活检,转而采用无创检查。浸润性心肌病(包括溶酶体和糖脂贮积病、铁过载和淀粉样变性(包括轻链淀粉样变性和转甲状腺素蛋白淀粉样变性)以及炎症性疾病(如结节病)的检出,已通过针对特定疾病的治疗使预后得到了缓慢改善。