Cardiac amyloidosis: recognition, diagnosis and management

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 CHA₂DS₂-VA score. Early recognition, timely referral and multidisciplinary care are essential to improve outcomes.