Transthyretin cardiac amyloidosis is a restrictive cardiomyopathy caused by extracellular deposition in the heart of amyloid fibrils derived from plasma transthyretin (ATTR), either in its hereditary (ATTRh) or acquired (ATTRwt) forms.1

Recently several progresses have been performed in the diagnosis and treatment of cardiac amyloidosis, especially ATTRh amyloidosis using RNA-targeting and gene editing therapies.2,3

Treatment of cardiac amyloidosis is very complex for the cardiologist where patients in addition to cardiac amyloidosis have multiple comorbidities such as heart failure, ventricular arrhythmias, atrial fibrillation, thromboembolic complications, conduction disorders, aortic stenosis, and orthostatic hypotension.4

In addition, ATTRh amyloidosis is a systemic and progressive disease that can involve not only the heart but also several systems (musculoskeletal system, peripheral nervous system, autonomic nervous system, kidney, ophthalmologic system) on the basis of ATTR gene variant, age, duration of symptoms before diagnosis.5

Some ATTR gene variants can have a predominant cardiological or neurologic or mixed phenotype.6,7

Therefore, it is very important to know the predominant phenotype of gene mutation and to research other concomitant manifestations to better guide the diagnosis and therapy.