Takashio Seiji, Nishi Masato, Tsuruta Yuichiro, Tsujita Kenichi
Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, chuo-ku, Kumamoto, Kumamoto 860-8556, Japan.
Eur Heart J Case Rep. 2020 Nov 6;4(6):1-6. doi: 10.1093/ehjcr/ytaa329. eCollection 2020 Dec.
Wild-type transthyretin amyloid cardiomyopathy (ATTRwt-CM) is receiving increasing attention due to the availability of novel treatment options. Carpal tunnel syndrome (CTS) and lumbar spinal canal stenosis are known early symptoms of transthyretin (TTR) amyloidosis preceding the cardiac involvement and are considered as 'Red Flags' for transthyretin amyloid cardiomyopathy (ATTR-CM).
A 67-year-old man with a history of lumbar spinal canal stenosis for the last 10 years, right rotator cuff tears for the last 4 years, and bilateral CTS for the last 1 year was scheduled for orthopaedic surgery for lumbar spinal canal stenosis. Investigations revealed severe left ventricular hypertrophy and hypertroponinaemia, which were suggestive of cardiac amyloidosis. Cardiac magnetic resonance imaging and Tc-labelled pyrophosphate scintigraphy demonstrated positive findings for ATTR-CM. Transthyretin deposition was found in both the myocardium and the yellow ligamentum excised during surgery. There was no transthyretin mutation on genetic testing. The final diagnosis was ATTRwt-CM.
Transthyretin deposition in the ligaments or tendons has been observed in a number of patients with CTS, spinal canal stenosis, and rotator cuff tears. These orthopaedic diseases are predictive for the future occurrence of ATTR-CM. In addition, the coexistence of these multiple diseases might strongly predict ATTR-CM. This knowledge needs to be shared with orthopaedicians and cardiologists for the early diagnosis of ATTR-CM.
由于新型治疗方案的出现,野生型转甲状腺素蛋白淀粉样变心肌病(ATTRwt-CM)受到越来越多的关注。腕管综合征(CTS)和腰椎管狭窄是转甲状腺素蛋白(TTR)淀粉样变在心脏受累之前的已知早期症状,被视为转甲状腺素蛋白淀粉样变心肌病(ATTR-CM)的“警示信号”。
一名67岁男性,有10年腰椎管狭窄病史、4年右肩袖撕裂病史以及1年双侧CTS病史,计划接受腰椎管狭窄的骨科手术。检查发现严重左心室肥厚和高肌钙蛋白血症,提示心脏淀粉样变。心脏磁共振成像和锝标记焦磷酸盐闪烁显像显示ATTR-CM的阳性结果。在手术切除的心肌和黄韧带中均发现转甲状腺素蛋白沉积。基因检测未发现转甲状腺素蛋白突变。最终诊断为ATTRwt-CM。
在许多患有CTS、椎管狭窄和肩袖撕裂的患者中观察到韧带或肌腱中转甲状腺素蛋白沉积。这些骨科疾病可预测未来ATTR-CM的发生。此外,这些多种疾病的共存可能强烈预测ATTR-CM。这一知识需要与骨科医生和心脏病专家分享,以早期诊断ATTR-CM。