Features of treatment of transthyretin amyloid cardiomyopathy: clinical case

Abstract

For several years, there has been a significant increase in the number of patients diagnosed with cardiac amyloidosis or amyloid cardiomyopathy (AC). The reason is the growing concern of specialists about amyloidosis and the increased accuracy of the instrumental methods of examination of patients of cardiological profile. Nowadays, more than 30 types of amyloidosis are known, however, the two main types are most commonly associated with cardiac involvement: amyloidosis of light chains (AL) and transthyretin amyloidosis (ATTR). Regardless of the underlying pathogenesis of amyloid production, cardiac involvement is the main cause of mortality in systemic amyloidosis. In addition to difficulties in early diagnosis, there are difficulties with further management of the disease. With the appearance of specific treatment, different depending on the type of amyloidosis, the problem of symptomatic therapy in these patients has become acute. Heart failure (HF) signs are usually prevalent in cardiac signs. Besides, patients with AC often have various arrhythmias and heart conduction disorders. However, the selection of heart failure therapy in patients with AC is complicated by the development of restrictive hemodynamic phenotype and concomitant autonomic dysfunction, making it impossible to manage standard heart failure therapy. The article presents a clinical case of a patient with a hereditary type of transthyretin amyloidosis with the cardiac involvement, whose main clinical manifestations were heart failure, cardiac rhythm and conductions disorders. This case demonstrates the importance of comprehensive and personalized approach in the management of ATTR-AC, the features of pathophysiology which require special approaches even to management of symptomatic therapy.