Cardiac amyloidosis: recognition, diagnosis and management

amyloid A or secondary amyloidosis) is associated with chronic inflammatory conditions and infections but is now less prevalent with specific treatment of the underlying conditions and rarely causes cardiac amyloidosis.3 The subtypes of cardiac amyloidosis cannot be distinguished based on clinical presentation, organ involvement or nonspecific cardiac imaging (i.e.echocardiography or cardiac magnetic resonance imaging).Formal diagnostic assessment is required to confirm amyloidosis and accurately identify the subtype.Although the diagnosis of cardiac amyloidosis, particularly ATTR amyloidosis, has increased significantly in the past decade, many cases remain unrecognised because of nonspecific presentation, with diagnostic delays often exceeding a year.1,5,6 ATTR amyloidosis is now the most common form of cardiac amyloidosis, but its true prevalence remains unknown.ATTR amyloidosis is present in up to 1 in 6 patients with either heart failure with preserved ejection fraction (HFpEF) or degenerative aortic Cardiac amyloidosis: recognition, diagnosis and management SUMMARY Cardiac amyloidosis is an under-recognised but treatable condition characterised by insoluble protein deposition in the heart and is associated with high morbidity and mortality.It is most commonly caused by transthyretin (known as transthyretin [ATTR] amyloidosis) but may also be caused by a plasma cell dyscrasia (known as light chain [AL] amyloidosis).Cardiac amyloidosis should be suspected in patients with heart failure and other suggestive features (e.g.carpal tunnel syndrome, peripheral and/or autonomic neuropathy), particularly in those aged over 65 years.Findings from a standard work-up for heart failure may raise the possibility of cardiac amyloidosis, such as unexplained cardiac biomarker elevation or left ventricular wall thickening on an echocardiogram.Early investigation can begin in primary care.Monoclonal protein testing is essential to exclude AL amyloidosis, which requires urgent haematology review and treatment.Standard heart failure assessment should also be undertaken if not already performed.Patients with suspected cardiac amyloidosis should be promptly referred to a cardiologist or amyloidosis centre for confirmatory testing, which, in most cases, can be done noninvasively.Treatment of ATTR includes disease-modifying therapies (tafamidis, vutrisiran) and heart failure management, predominantly with diuretics and sodium-glucose co-transporter 2 inhibitors.All patients with atrial fibrillation or atrial flutter should be anticoagulated regardless of CHA 2 DS 2 -VA score.