Cardiac amyloidosis is caused by the deposition of misfolded protein fibrils into the extracellular space of the heart. The diagnosis of cardiac amyloidosis remains challenging because of the heterogeneous manifestations of the disease. There are many different types of amyloidosis with light-chain (AL) amyloidosis and transthyretin (ATTR) amyloidosis being the most common types of cardiac amyloidosis. Endomyocardial biopsy is considered the gold standard for diagnosing cardiac amyloidosis and differentiating amyloid subtypes, but its use is limited because of the invasive nature of the procedure, with risks for complications and the need for specialized training and centers to perform the procedure. Radionuclide cardiac imaging has recently become the most commonly performed test for the diagnosis of ATTR amyloidosis but is of limited value for the diagnosis of AL amyloidosis. Positron emission tomography has been increasingly used for the diagnosis of cardiac amyloidosis and its applications are expected to expand in the future. Imaging protocols are under refinement to achieve better quantification of the disease burden and prediction of prognosis.

Acute flail mitral valve frequently results in severe mitral regurgitation. However, its clinical presentation can be similar to other disease processes, potentially leading to initial misdiagnosis and a morbid outcome. We sought to analyze baseline characteristics, clinical presentations, time to diagnosis, and in-hospital mortalities of patients with the acute flail mitral valve. Two hundred and sixty two consecutive echocardiograms with severe mitral regurgitation performed between February 2005 and October 2010 at the Jack D. Weiler Hospital (Bronx, New York, USA) were reviewed. Adult patients who had presented with new onset flail mitral valves were selected for this retrospective study. Fifteen patients were found to have acute flail mitral valve. The majority was elderly male. Over half presented to the emergency room with a sudden onset of dyspnea. A mitral regurgitant murmur was appreciated in only a third of the patients. The chest X-ray of five patients had no acute pulmonary findings, whereas, two were found to have gross unilateral pulmonary edema. Clinically, 60% were misdiagnosed on admission. Using echocardiogram, the correct diagnosis of flail mitral valve was made in all cases, however, only 40% on the day of presentation. The maximum time to echocardiographic diagnosis was 4 days. The main cause of acute flail mitral valve was degenerative disease. Seven patients were managed surgically. Overall, there was only one mortality (7%) during incident hospitalization. Initial misdiagnosis of acute flail mitral valve happens frequently. Early echocardiographic exam is essential in the timely diagnosis and management of acute flail mitral valve.

Patients with multiple myeloma (MM) are at a high risk for developing cardiovascular complications. Global longitudinal strain (GLS) can detect early functional impairment before structural abnormalities develop. It remains unknown if reduced GLS is associated with reduced survival in patients with MM. We conducted a retrospective cohort analysis of patients diagnosed with MM between 1 January 2000 and 31 December 2017 at our institution. Patients with a 2D transthoracic echocardiogram completed within 1 year of MM diagnosis, left ventricular ejection fraction (LVEF) greater than 40%, and no history of myocardial infarction prior to MM diagnosis were included. GLS was measured using an artificial-intelligence-powered software (EchoGo Core), with reduced GLS defined as an absolute value of 9.6, LVEF/GLS > 4.1, higher LV mass index, and low-voltage ECG. A Total of 126 (52.1%) deaths occurred during follow-up. Overall survival was lower among patients with reduced GLS (adjusted HR: 1.81, CI: 1.07–3.05).

We report a case of transthyretin amyloidosis (ATTR) in a 66-year-old man. Genetic testing revealed an exceedingly rare mutation TTR Ala120Ser (c.418G > T, p.Ala140Ser). Only two prior cases with t...

Transthyretin (TTR) amyloidosis is a systemic, progressive, and fatal disease. TTR is integral in vitamin A (retinol) transport via its binding to retinol binding protein 4 (RBP4). Current and emerging therapies for TTR amyloid cardiomyopathy (ATTR-CM), including RNAi therapies and potentially CRISPR-based therapies, reduce hepatic transthyretin production and hence decrease serum RBP4, which decreases circulating vitamin A levels. However, despite these reductions in circulating vitamin A, hepatic reserves and alternative delivery mechanisms may prevent clinical manifestations of vitamin A deficiency. Vitamin A functions as a key regulator of immunity, antioxidant function, cell growth and differentiation and vision. This paper aims to serve as a comprehensive review of vitamin A and its metabolites, their transport, and their function in human health and disease. Additionally, we seek to synthesize the relevant outcomes and safety data of TTR silencing therapies and how they relate to circulating vitamin A levels and vitamin A-related clinical outcomes in a manner that is relevant to the cardiac amyloidosis specialist.