Wild-type transthyretin amyloid cardiomyopathy complicated by spinal canal stenosis, carpal tunnel syndrome, and rotator cuff tears: a case report

Abstract

Background 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). Case summary 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 99mTc-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. Discussion 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.

Transthyretin Cardiac Amyloidosis: A Cardio-Orthopedic Disease

“…Studies about the prevalence of rotator cuff tears in ATTR cardiomyopathy are lacking. Takashio et al reported a case of a patient with a long history of LSS, right rotator cuff tears, and bilateral CTS, that during preoperative evaluation for LS surgical decompression showed typical amyloidosis red flags at transthoracic echocardiogram, cardiac MRI and 99mTc-labelled pyrophosphate scintigraphy [ 55 ]. The ATTR-CA was confirmed by TTR amyloid deposition in the myocardium and surgically excised ligamentum flavum.…”

Role of Diphosphonates Bone Scintigraphy in Correlation with Biomarkers for a Personalized Approach to ATTR Cardiac Amyloidosis in North-Eastern Romania

“…The criteria described in literature are based on low voltage (due to increased thickness of the left ventricle), Sokolow criteria, pseudo-infarct pattern, conduction disorders (complete or incomplete bundle branch blocks) and rhythm disorders (arrhythmias, atrial fibrillation, flutter) [8][9][10][11][12]. However, these criteria are found in both ATTR and AL cardiac amyloidosis but in different positivity rates [2,3,13].…”