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Cardiac amyloidosis: when to suspect and how to confirm.

J Cardiovasc Med (Hagerstown)

February 2025

Center for Diagnosis and Treatment of Cardiomyopathies, Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano-Isontina (ASUGI), University of Trieste.

Diagnosing cardiac amyloidosis (CA) is challenging because of its phenotypic heterogeneity, multiorgan involvement requiring interaction among experts in different specialties and subspecialties, lack of a single noninvasive diagnostic tool, and still limited awareness in the medical community. Missing or delaying the diagnosis of CA may profoundly impact on patients' outcomes, as potentially life-saving treatments may be omitted or delayed. The suspicion of CA should arise when "red flags" for this condition are present, together with increased left ventricular wall thickness.

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Objective: Although left ventricular hypertrophy frequently accompanies end-stage renal disease, heart failure (HF) with reduced ejection fraction (EF) is also observed in a subset of patients. In those patients kidney transplantation (KT) is generally avoided due to an increased risk of mortality in addition to the risks associated with HF. This prospective study was designed to follow patients with HF who were being prepared for KT.

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Introduction: Immunotherapy has transformed cancer treatment, particularly with immune checkpoint inhibitors and chimeric antigen receptor T-cell therapy. Despite their efficacy, these therapies can induce cardiotoxicity, presenting significant clinical challenges. Immune checkpoint inhibitors can cause myocarditis; pericarditis; arrhythmias; and myocardial infarction through immune-mediated inflammation.

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Article Synopsis
  • Sarcoidosis is a rare chronic disease with an unclear cause, making cardiac sarcoidosis (CS) diagnosis particularly challenging.
  • Current guidelines for diagnosing CS lack clinical validation, and while endomyocardial biopsy is specific, it is not very sensitive and has significant risks.
  • A case study of a 63-year-old man diagnosed with CS through endobronchial ultrasound transbronchial needle aspiration (EBUS TBNA) of normal lymph nodes suggests that EBUS TBNA could be a viable option for diagnosing CS in cases without clear pulmonary sarcoidosis evidence.
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BACKGROUND Amyloidosis is a group of diseases characterized by the pathological deposition of misfolded proteins in various organs, including the heart, leading to structural and functional alterations. The primary types of cardiac amyloidosis are light chain amyloidosis and transthyretin amyloidosis. Early diagnosis is critical for effective management.

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