Diagnosis and treatment of cardiac amyloidosis: an interdisciplinary consensus statement

Abstract

SummaryThe prevalence and significance of cardiac amyloidosis have been considerably underestimated in the past; however, the number of patients diagnosed with cardiac amyloidosis has increased significantly recently due to growing awareness of the disease, improved diagnostic capabilities and demographic trends. Specific therapies that improve patient prognosis have become available for certain types of cardiac amyloidosis. Thus, the earliest possible referral of patients with suspicion of cardiac amyloidosis to an experienced center is crucial to ensure rapid diagnosis, early initiation of treatment, and structured patient care. This requires intensive collaboration across several disciplines, and between resident physicians and specialized centers. The aim of this consensus statement is to provide guidance for the rapid and efficient diagnosis and treatment of light-chain amyloidosis and transthyretin amyloidosis, which are the most common forms of cardiac amyloidosis.

Convolutional Neural Networks for Fully Automated Diagnosis of Cardiac Amyloidosis by Cardiac Magnetic Resonance Imaging

“…Although LGE CMR imaging represents a real alternative to myocardial biopsy for diagnosing CA with an excellent diagnostic accuracy [19], readers in CMR centers with a low volume of referrals for the detection of myocardial storage diseases or a low volume of cardiac CMRs in general may overlook nonspecific or rare signs for CA. In light of the high prevalence of the disease and emerging therapeutic options [10], we feel that there is an urgent need to avoid lacking diagnoses with regard to CA. Herein, inspired by the hugely successful applications of state-of-the-art deep learning techniques in image understanding [13] and particularly transfer learning techniques in the medical imaging domain [14], we used CNNs to develop a fully automated algorithm for the diagnosis of CA using CMR.…”

“…Furthermore, the signs of AL CA may be nonspecific on CMR scans, and CMR may even appear unremarkable although CA is present [9]. This is important to notice, as AL CA seems to be at least as frequent as TTR but affects younger patients and is characterized by a significantly higher morbidity and mortality than TTR CA [10]. Importantly, however, underlying conditions such as plasma cell dyscrasia (i.e., multiple myeloma) make AL CA an effectively treatable disease today [10].…”

“…Furthermore, readers in CMR centers with a low volume of referrals for the detection of myocardial storage diseases or a low volume of cardiac CMRs in general may overlook nonspecific or rare signs of CA. In light of the high prevalence of the disease and emerging therapeutic options [10], we feel that there is an urgent need to avoid lacking CA diagnoses. We therefore used convolutional neural networks (CNNs) to develop a fully automated algorithm for the diagnosis of CA using CMR.…”

A Case Report of Sick Sinus Syndrome as an Initial Presentation of Primary Amyloidosis

“…Treatment strategies consist of supportive treatment for heart failure and rhythm disturbances, including cardiac devices (e.g., implantable cardioverter defibrillator, left ventricular assist devices, and permanent pacemaker implantation) [ 2 ]. In cardiac amyloidosis patients with heart failure and preserved ejection fraction, traditional neurohumoral therapies have not been proven effective and, in some cases, were associated with worse outcomes [ 5 ].…”

Cardiac Amyloidosis-Challenging Diagnosis and Unclear Clinical Picture

“…We can also distinguish some red flags for suspicion of cardiac amyloidosis, including carpal tunnel syndrome, peripheral neuropathy symptoms or pseudo-infarct pattern in the electrocardiographic examination, [ 4 ]. There is also a propensity to orthostatic hypotension, which can lead to syncope or pre-syncope syndromes [ 5 ]. The overall symptoms are associated with poor quality of life [ 6 ].…”