Late onset cardiomyopathy as presenting sign of ATTR A45G amyloidosis caused by a novel TTR mutation (p.A65G)

摘要: Abstract Objective The clinical description of a novel TTR gene mutation characterized by late onset amyloid cardiomyopathy. Methods and Results A 78-year-old man Dutch origin with recent surgery for bilateral carpal tunnel syndrome (CTS) was admitted to our hospital because heart failure preserved ejection fraction (55%). Cardiac ultrasound showed thickened biventricular walls, cardiac magnetic resonance imaging also gadolinium enhancement. Early signs polyneuropathy were found neurophysiological testing. few months later, his 72-year-old sister an affiliated caused restrictive In both patients, subcutaneous abdominal fat aspirate stained Congo red DNA analyzed direct sequencing exons 1 4 the transthyretin (TTR) gene. Both aspirates revealed transthyretin-derived (ATTR) amyloid. 99mTc-diphosphonate scintigraphy further confirmed ATTR amyloidosis in male patient. analysis patients c.194C > G that encodes product (p.A65G) ending up as mature protein A45G. 56-year-old daughter patient had same mutation. full diagnostic workup did not reveal any yet. Conclusions amyloidogenic family. presentation A45G affected family members due late-onset systemic nature this disease reflected CTS early index