Updates for the diagnosis and management of cardiac amyloidosis

Abstract

A substantial increase in the interest in transthyretin cardiac amyloidosis (ATTR-CA) is a result of the constantly growing number of patients, the use of clear diagnostic protocols and the availability of the first selective drug for these patients. This has also raised the awareness of the disease among physicians of all specialties. The topic is particularly relevant to cardiologists, who use non-invasive multimodal imaging in their daily practice.The differential diagnosis of the causes of myocardial hypertrophy includes arterial hypertension, hypertrophic cardiomyopathy, aortic stenosis (AS), athletic heart syndrome, Fabry disease, and cardiac amyloidosis (CA). It turns out that in patients with myocardial hypertrophy >15 mm, amyloidosis is the most common cause of left ventricular (LV) hypertrophy. In parallel, CA is one of the most common infiltrative diseases leading to a clinical picture that may mimic heart failure with preserved ejection fraction (HFpEF).The accumulation of amyloid in the extracellular space impairs the diastolic function of the myocardium, which is observed as the restrictive cardiomyopathy phenotype. In advanced cases, the LV systolic function is also impaired. Moreover, protein deposits contribute to the disturbances of calcium metabolism and cell metabolism as well as to cardiotoxicity, leading to edema and damage to cardiomyocytes.

State of the Art of Cardiac Amyloidosis

“…Unfortunately, the clinical symptoms of both forms of amyloidosis (AL-CA and ATTR-CA) are protean, and because of a misconception about CA, this contributes to its underdiagnosis and thus makes early diagnosis difficult. The most common extracardiac signs and symptoms of all forms of amyloidosis are listed as follows: proteinuria and/or nephrotic syndrome, small fiber neuropathy or polyneuropathy, hepatomegaly, skin bruising, macroglossia, bilateral carpal tunnel, spinal stenosis, and biceps rupture [ 21 ]. Figure 1 sums up the clinical picture of CA.…”

Heart Failure With Preserved Ejection Fraction: An Evolving Understanding

“…Nitrates improve NO bioavailability, dilate vessels, and reduce the workload on the heart [35,167]. Cardiac amyloidosis is a condition that is mainly responsible for HFpEF progression [168][169]. There are some approaches based on tafamidis [169][170][171], which stabilizes transthyretin proteins and may potentially improve outcomes in patients' amyloidosis [169][170][171][172].…”

“…Cardiac amyloidosis is a condition that is mainly responsible for HFpEF progression [168][169]. There are some approaches based on tafamidis [169][170][171], which stabilizes transthyretin proteins and may potentially improve outcomes in patients' amyloidosis [169][170][171][172].…”