Spontaneous Partial Rupture of The Long Proximal Biceps Tendon in A Patient with Variant Transthyretin Amyloid Cardiomyopathy due to A Heterozygous Mutation of c148G>A p.Val50Leu

Variant transthyretin amyloid cardiomyopathy (ATTRv-CM) is a rare disease caused by a genetic mutation of the ATTR gene. Due to the associated pathogenic mutation, transthyretin tetramers lose their stability and misfold. As a result, amyloid fibrils accumulate in many tissues, especially in the heart. The clinical progress varies depending on the mutation in patients with ATTRv-CM. The database regarding ATTR mutations in Turkey is limited. This paper presented the association of spontaneous biceps tendon rupture, detected before diagnosis, in an ATTRv-CM case with c148G>A pVal50Leu heterozygous mutation.