Transthyretin Amyloid Cardiomyopathy – Setting the Diagnosis Step by Step
Nejra Mlaco-Vrazalic1 , Anela Subo2, Nejra Prohic1, Mirza Skalonja3, Ada Djozic2, Izeta Kurbasic2, Sejla Biscevic3 , Edin Begic 2,4
1 Department of Internal medicine, General Hospital “Prim. Dr. Abdulah Nakas”, Sarajevo, Bosnia and Herzegovina
2 Department of Cardiology, General Hospital “Prim. Dr. Abdulah Nakas”, Sarajevo, Bosnia and Herzegovina
3 Department for Nuclear Medicine, General Hospital “Prim. Dr. Abdulah Nakas”, Sarajevo, Bosnia and Herzegovina
4 Department of Pharmacology, Sarajevo Medical School, Sarajevo School of Science and Technology, Sarajevo,
Bosnia and Herzegovina
Corresponding Author: Nejra Mlaco-Vrazalic MD. Department of Internal Medicine, General Hospital “Prim. dr Abdulah Nakas”; E-mail: nejra.ml@gmail.com; Phone: +387 33 285 100; ORCID ID: https://orcid.org/0000-0002-3299-6899.
Pages: 29-33 / Published online: 20 August 2024
Cite this article: Mlaco-Vrazalic N, Subo A, Prohic N, Skalonja M, Djozic A, Kurbasic I, et al. Transthyretin Amyloid Cardiomyopathy – Setting the Diagnosis Step by Step. Sar Med J. 2024; 1(1): Online ahead of print. 
DOI: 10.70119/0008-24
Original submission: 20 March 2024; Revised submission: 14 June 2024; Accepted: 17 July 2024
Abstract
Introduction: Transthyretin amyloid cardiomyopathy (ATTR-CM) can be diagnosed in the absen-ce of histology with typical echocardiographic fi ndings and skeletal scintigraphy showing grade 2 or 3 myocardial tracer uptake, when clonal plasma cell dyscrasia is excluded. Aim: To present a patient diagnosed with ATTR-CM, who was hospitalized with clinical signs of congestive heart failure. Case Report: An 84-year-old man was hospitalized with clinical signs of heart failure. Echocardiography showed concentric left ventricular hypertrophy (LVH) with reduced systolic function, along with impaired LV global longitudinal strain (GLS) with apical sparing (-9.9%). Serum and urine protein electrophoresis with immunofi xation were obtained and were negative for plasma cell dyscrasia. Bone scintigraphy showed similar radiotracer uptake in the myocar-dium and ribs (Perugini grade 2). The diagnosis of ATTR-CM was confi rmed. Conclusion: ATTR-CM is an underdiagnosed condition and should be suspected in patients with heart failure and unexplained LVH.
Keywords: amyloidosis, cardiomyopathies, diagnosis, rare diseases.
Learning Objectives:
- To consider infi ltrative cardiomyopathy in patients with “red fl ag” signs related to transthyre-tin amyloid cardiomyopathy (ATTR-CM), including LV hypertrophy.
- To understand the ATTR-CM diagnostic approach.
- To understand that ATTR-CM can be diagnosed in daily clinical practice via non-invasive means.
- Early diagnosis of ATTR-CM is a key to improving patient outcomes.
