Interdisciplinary Multidimensional Assessment of Transthyretin Amyloidosis before and after Tafamidis

Abstract

Background: Clinically, there is considerable heterogeneity in the presentation of transthyretin amyloidosis (ATTR), which ranges from primarily cardiac and primarily neurologic to mixed disease, among other manifestations. Because of this complex presentation, the diagnosis and management of patients with ATTR are often challenging and should be performed in interdisciplinary centers specialized in amyloidosis. Here, we aimed to increase awareness of ATTR detection and pathophysiology through a multidimensional multiorgan approach.

Case report: We reported on a 60-year-old man with wild-type ATTR who underwent a number of both basic and advanced cardiological and neurological investigations at baseline and after a treatment period with the TTR tetramer stabilizer, tafamidis. Several findings are provided here, some of which might be considered instrumental correlates of the patient's clinical improvement after therapy.

Conclusions: Adequate awareness and prompt recognition of ATTR support early diagnosis and faster access to therapies, thereby slowing the progression and improving the prognosis. The need for a multidisciplinary alliance between specialists and the opportunity to perform, at least in selected cases, a set of specific examinations for a detailed assessment of ATTR patients can also provide valuable insights into the physiopathology and response to therapy of a disease as complex and intriguing as ATTR.

Keywords: amyloidosis; cardiomyopathy; cerebral hemodynamics; cortical excitability; diagnosis; multidisciplinary.

Figure 1

Flowchart summarizing the 2023 guidelines of the European Society of Cardiology (ESC) for cardiomyopathies, especially focusing on cardiac amyloidosis. Abbreviations: CA, cardiac amyloidosis; BP, blood pressure; HS, high sensitivity; NT-proBNP, N-terminal pro-b-type natriuretic peptide; ECG, electrocardiogram; echo, echocardiogram; CMR, cardiac magnetic resonance; LVH, left ventricular hypertrophy; GLS, global longitudinal strain; LABS, laboratory exams; AF, atrial fibrillation; VT, ventricular tachycardia; AL-CM, amyloid monoclonal immunoglobulin light chain cardiomyopathy; FLC, free-light chains; IFE, immunofixation electrophoresis; SPECT, single-photon emission computed tomography; ATTR-CM, transtiretin amyloid cardiomyopathy; NP, neuropathy; TTR, transthyretin; NYHA; New York Heart Association; wt, wild type; v, variant; GDMT, guideline-directed medical therapy; ICD, implantable cardioverter defibrillator; CRT, cardiac resynchronization therapy; VAD, ventricular assistance device; HTx, heart transplantation.