From Clinical Clues to Final Diagnosis: The Return of Detective Work to Clinical Medicine in Cardiac Amyloidosis

Frontiers in Cardiovascular Medicine

Khwaja Yousuf Hasan¹  Haluk Alibazoglu¹  Andrew L. Rivard¹  Firas Al Badarin¹  Stefano Perlini²  Ingy Romany³  Hani Sabbour⁴ 

[1] Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates;Emergency Department, Amyloid Research and Treatment Center, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Policlinico San Matteo Foundation, Internal Medicine Department, University of Pavia, Pavia, Italy;Pfizer Gulf FZ LLC, Dubai, United Arab Emirates;Warren Alpert School of Medicine, Brown University, Providence, RI, United States;

关键词: amyloidosis;    ATTR;    transthyretin amyloid cardiomyopathy;    immunoglobulin light chain amyloidosis;    differential diagnosis;   

DOI  :  10.3389/fcvm.2021.644508

来源: DOAJ

【 摘 要 】

Cardiac amyloidosis is frequently misdiagnosed, denying patients the opportunity for timely and appropriate management of the disease. The purpose of this review and case studies is to raise awareness of the diagnostic “red flags” associated with cardiac amyloidosis and the currently available non-invasive strategies for diagnosis. The review focuses on the identification of one of the two main types of cardiac amyloidosis, transthyretin amyloid cardiomyopathy, and non-invasive tools to distinguish this from light-chain amyloidosis. A diagnostic algorithm centered around the use of non-invasive imaging and laboratory analysis is presented. The algorithm generates four differential diagnoses for patients presenting with signs and symptoms consistent with cardiac amyloidosis. Case examples are presented, representing the four potential outcomes of diagnosis using the algorithm. The review provides a guide on how to recognize the often-overlooked presentations of this disease in clinical practice. Non-invasive imaging techniques and diagnostic tools that do not require the involvement of a specialty center have allowed for the improved diagnosis of cardiac amyloidosis. Timely diagnosis of this life-threatening disease is essential for optimal management and it is imperative that clinicians have a high index of suspicion for patients presenting with “red flag” symptoms.

【 授权许可】

Unknown