Multimodality family screening of patients with cardiac transthyretin amyloidosis: a case of an asymptomatic patient
暂无分享,去创建一个
Transthyretin amyloidosis (ATTR) is a disease caused by amyloid fibrils deposition. There are two types of ATTR, ATTR variant (ATTRv) and ATTR wild-type (ATTRwt). Transthyretin amyloidosis variant is inherited in an autosomal-dominant manner with variable penetrance. Although considered as rare, its prevalence may be underestimated. 1 The disease affects various body systems, most often causing polyneuropathy or cardiomyopathy; however, it may be connected with red flag symptoms such as bilateral carpal tunnel syndrome, biceps tendon rupture, or ‘ apical sparing ’ in echocardiography. Without the proper treatment, the disease is associated with short life expectancy, especially when myo-cardium is affected. This severe, progressive, multi-organ disease carries a poor prognosis with an average survival time of 2 – 3 years. 1 Transthyretin amyloidosis can be diagnosed based on scintigraphy and the absence of monoclonal protein in serum and urine. 2,3 A 45-year-old Caucasian, asymptomatic
[1] P. Elliott,et al. Efficacy of Tafamidis in Patients With Hereditary and Wild-Type Transthyretin Amyloid Cardiomyopathy: Further Analyses From ATTR-ACT. , 2020, JACC. Heart failure.
[2] C. Rapezzi,et al. Expert Consensus Recommendations for the Suspicion and Diagnosis of Transthyretin Cardiac Amyloidosis. , 2019, Circulation. Heart failure.
[3] James C Moon,et al. Nonbiopsy Diagnosis of Cardiac Transthyretin Amyloidosis , 2016, Circulation.