Transthyretin cardiac amyloidosis: Case report with literature review

LOUDIYI, Nadia and BELLOUIZE, Siham and ZAIMI, Achraf and MALKI, Mohamed and MOUINE, Najat and BENYASS, Atif (2025) Transthyretin cardiac amyloidosis: Case report with literature review. International Journal of Science and Research Archive, 15 (1). pp. 1498-1504. ISSN 2582-8185

Transthyretin cardiac amyloidosis includes both senile or wild-type amyloidosis (ATTRwt) and hereditary amyloidosis (ATTRv), which are related to a mutation in the transthyretin gene. This pathology is characterized by the extracellular accumulation of insoluble fibrillary proteins that progressively impair myocardial function. The prognosis depends on the severity of the cardiac involvement. Cardiac manifestations are nonspecific and include symptoms of heart failure and/or conduction and rhythm disturbances (atrial flutter and fibrillation). The diagnosis of cardiac amyloidosis has greatly improved over the past ten years and relies on multimodal imaging, primarily echocardiography, cardiac MRI, and bone scintigraphy. We report the case of a 71-year-old patient presenting with global heart failure in the context of transthyretin cardiac amyloidosis. This case provides an opportunity to review the literature on cardiac involvement related to this condition, as well as the differential diagnoses of restrictive cardiomyopathies.