ISSN 1016-5169 | E-ISSN 1308-4488
Archives of the Turkish Society of Cardiology
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 [Turk Kardiyol Dern Ars]
Turk Kardiyol Dern Ars. Ahead of Print: TKDA-71970 | DOI: 10.5543/tkda.2024.71970

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

Belma Kalaycı1, Ezgi Polat Ocaklı1, Nur Aydınbelge Dizdar2, Esin Kurtuluş Öztürk3, Taha Bahsi4, Özlem Özmen2
1Department of Cardiology, Ankara Etlik City Hospital, Ankara, Türkiye
2Department of Nuclear Medicine, Ankara Etlik City Hospital, Ankara, Türkiye
3Department of Radiology, Ankara Etlik City Hospital, Ankara, Türkiye
4Department of Medical Genetics, Ankara Etlik City Hospital, Ankara, Türkiye

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.

Keywords: Biceps tendon rupture, herediter amyloid, transthyretin, variant amyloid cardiomyopathy

How to cite this article


Corresponding Author: Belma Kalaycı
Manuscript Language: English


Journal Metrics

Journal Citation Indicator: 0.18
CiteScore: 1.1
Source Normalized Impact
per Paper:
0.22
SCImago Journal Rank: 0.348

Quick Search



Copyright © 2024 Archives of the Turkish Society of Cardiology



Kare Publishing is a subsidiary of Kare Media.