Transthyretin V122I amyloidosis with clinical and histological evidence of amyloid neuropathy and myopathy

• Published in: Neuromuscular disorders : NMD Vol. 25; no. 6; pp. 511 - 515
• Main Authors: Carr, A.S, Pelayo-Negro, A.L, Jaunmuktane, Z, Scalco, R.S, Hutt, D, Evans, M.R.B, Heally, E, Brandner, S, Holton, J, Blake, J, Whelan, C.J, Wechalekar, A.D, Gillmore, J.D, Hawkins, P.N, Reilly, M.M
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.06.2015
• Subjects: Amyloid Neuropathies, Familial - complications; Amyloid Neuropathies, Familial - pathology; Amyloid Neuropathies, Familial - physiopathology; Cardiomyopathy; Heart Diseases - complications; Heart Diseases - pathology; Heart Diseases - physiopathology; Hereditary amyloidosis; Humans; Male; Middle Aged; Muscle, Skeletal - pathology; Myocardium - pathology; Myopathy; Neurology; Neuropathy; Peripheral Nervous System Diseases - complications; Peripheral Nervous System Diseases - diagnosis; Transthyretin; NYHA; SAP; Cardiomyopathy; Hereditary amyloidosis; Transthyretin; Neuropathy; National Amyloidosis Centre; ATTR; NAC; New York Heart Association; Serum Amyloid P; Transthyretin amyloidosis; 99mTc-3,3-Diphosphono-1,2-Propanodicarboxylic acid; DPD; Myopathy
• ISSN: 0960-8966; 1873-2364
• DOI: 10.1016/j.nmd.2015.02.001

Highlights • V122I ATTR is the commonest cause of familial amyloid cardiomyopathy. • Neuromuscular amyloidosis has not been previous described with this mutation. • Extra-cardiac involvement may reduce risk associated with tissue diagnosis. • Cardiac transplant is precluded by extra-cardiac disease. • New treatments for hereditary transthyretin amyloidosis are promising.