Diagnosis and treatment of cardiac amyloidosis. A position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases

Abstract

Cardiac amyloidosis is a serious and progressive infiltrative disease that is caused by the deposition of amyloid fibrils at the cardiac level. It can be due to rare genetic variants in the hereditary forms or as a consequence of acquired conditions. Thanks to advances in imaging techniques and the possibility of achieving a non‐invasive diagnosis, we now know that cardiac amyloidosis is a more frequent disease than traditionally considered. In this position paper the Working Group on Myocardial and Pericardial Disease proposes an invasive and non‐invasive definition of cardiac amyloidosis, addresses clinical scenarios and situations to suspect the condition and proposes a diagnostic algorithm to aid diagnosis. Furthermore, we also review how to monitor and treat cardiac amyloidosis, in an attempt to bridge the gap between the latest advances in the field and clinical practice.

Expert consensus on the monitoring of transthyretin amyloid cardiomyopathy

“…Transthyretin amyloid cardiomyopathy (ATTR-CM) is a life-threatening condition that is characterized by deposits of amyloid protein in the extracellular space of the myocardium, causing progressive infiltrative cardiomyopathy. 1,2 ATTR-CM is characterized by increased left ventricular (LV) wall thickness and diastolic dysfunction, with around a third of patients showing a restrictive filling pattern. 3 ATTR-CM presents in two predominant phenotypes: variant ATTR-CM (ATTRv), which is a hereditary form of the disease caused by mutations in the transthyretin (TTR) gene that can present as a multisystem disease in people from early middle age onwards; and wild-type ATTR-CM (ATTRwt), which predominantly affects the heart in isolation and typically affects men over 60 years of age, but is also found in women.…”

“…Traditionally, ATTR-CM has been considered to be a rare disease; however, recent data suggest that the prevalence may be substantially higher than previously assumed. 2,9,10 Historical underdiagnosis means that the natural history of the disease remains uncertain, with data limited to small observational cohorts and latterly to the placebo arm of clinical trials. Nevertheless, it is clear that the disease progresses silently and that diagnosis often follows presentation with late-stage cardiac manifestations.…”

“…Transthyretin amyloid cardiomyopathy (ATTR‐CM) is a life‐threatening condition that is characterized by deposits of amyloid protein in the extracellular space of the myocardium, causing progressive infiltrative cardiomyopathy 1,2 . ATTR‐CM is characterized by increased left ventricular (LV) wall thickness and diastolic dysfunction, with around a third of patients showing a restrictive filling pattern 3 …”

Cardiac amyloidosis and surgery. What do we know about rare diseases?

“…Although classified as rare disease, it seems that amyloidosis is increasingly being recognized as a cause of heart failure (7). The European Society of Cardiology has promptly recognized this in a recent position paper published by its Working Group on Myocardial and Pericardial Disease (8). Its potential role in heart failure with preserved ejection fraction and eventual therpeutic approach have recently been hihglighted in some reviews (9,10).…”

Cardiac amyloidosis and surgery: What do we know about rare diseases?

“…5 The European Society of Cardiology has promptly recognized this in a recent position paper published by its Working Group on Myocardial and Pericardial Disease. 6 Its potential role in heart failure with preserved ejection fraction and eventual therapeutic approach have recently been highlighted in some reviews. 7,8 Having said that, Smith et al 9 from London present in this issue of the journal, an interesting review proposal with regards to cardiac amyloidosis in non-transplant cardiac surgery.…”