Severe Aortic Stenosis in a Patient With Transthyretin Cardiac Amyloidosis: A Case Report

Abstract

Transthyretin amyloidosis (ATTR) is a condition in which amyloid fibrils derived from transthyretin accumulate in tissues, which may result from hereditary factors or the ageing process. Heart problems are often observed, resulting in restrictive cardiomyopathy, causing heart failure and electrical conduction abnormalities.Aortic stenosis is the most common form of valve disease in older people. Recent research has revealed a significant link between ATTR amyloidosis, particularly the wild-type form, and severe aortic stenosis, with important implications for diagnosis, prognosis and treatment options. In this article, we report the case of an elderly patient with severe aortic stenosis and significant left ventricular hypertrophy. Transthoracic echocardiography revealed a cockade appearance of the global lateral strain, and cardiovascular magnetic resonance imaging showed diffuse late gadolinium enhancement in both ventricles, suggesting cardiac amyloidosis. Bone scintigraphy revealed intense myocardial uptake (Perugini grade 3), confirming transthyretin cardiac amyloidosis. The patient was treated with transcatheter aortic valve implantation and started tafamidis therapy with good result.