Cardiac Amyloidosis-Challenging Diagnosis and Unclear Clinical Picture

Abstract

Cardiac amyloidosis (CA) is a rare systemic disease determined by the extracellular deposition of amyloid protein in the heart. The protein can accumulate in any part of the heart: myocardium, vessels, endocardium, valves, epicardium and parietal pericardium. The types of CA include the following types: light chain (AL), amyloidosis AA (Amyloid A) and transthyretin (ATTR). The detection of specific subtypes remains of great importance to implement the targeted treatment. We present the case of a 65-year-old woman, who was admitted with severe deterioration of exercise capacity, a bilateral reduction of physiological vesicular murmur, ascites and edema of lower extremities. CA was suspected due to echocardiographic examination results, which led to further examination and final diagnosis. The aim of this study is to improve the disease awareness among clinicians and shorten the delay between the first symptoms and the diagnosis establishment resulting in a better outcome.

Cardiac amyloidosis, report of 2 cases with strain echocardiography and cardiovascular magnetic resonance

“…DISCUSSIONClinical findings: cardiac amyloidosis, a disease resulting from the aggregates of amyloid proteins in the myocardial extracellular matrix that leads to restrictive cardiomyopathy(Siddiqi and Ruberg, 2018;Taiwo et al, 2019). Cardiac amyloidosis is difficult to diagnose because of nonspecific clinical manifestations, the most patient are admitted by severe congestive HF and arrythmias(Kozak et al, 2021;Morais et al, 2014). Two patients in our study were presented by marked dyspnea and edema wich were manifestations of advanced heart failure.…”

Unusual presentation of transthyretin (ATTR) cardiac amyloidosis: A case report of pruritus as a possible initial symptom and challenging diagnosis

“…While AL amyloidosis exhibits cardiac involvement in about 70% of cases, ATTR amyloidosis involves the heart in approximately 10% of cases. ATTR amyloidosis includes both hereditary forms (ATTRm) and acquired wild‐type ATTR (ATTRwt), also known as senile amyloidosis 9 . Amyloid fibril deposits can accumulate in various organs, with the heart being one of the most commonly affected.…”

“…ATTR amyloidosis includes both hereditary forms (ATTRm) and acquired wild‐type ATTR (ATTRwt), also known as senile amyloidosis. 9 Amyloid fibril deposits can accumulate in various organs, with the heart being one of the most commonly affected. CA can significantly impair cardiac function due to the infiltration of amyloid fibrils into cardiac tissue and the direct toxicity of circulating light chains on myocardial cells.…”

Diagnostic Sensitivity of Abdominal Fat Aspiration Biopsy for Cardiac Amyloidosis: A Systematic Review and Meta-Analysis

“…Therefore, the final diagnosis can only be based on histopathological examination. 21 Selection of the correct tissue or site for biopsy is essential to avoid false negatives and delayed diagnosis. 22 EMB is a high-risk operation while it is generally accepted that abdominal fat aspiration biopsy provides a less invasive diagnostic modality, and it is necessary for us to further explore its diagnostic performance.…”