Patient with ATTR cardiac amyloidosis presenting with heart failure with reduced ejection fraction

Abstract

ATTR amyloidosis involving the heart solely despite it being a multisystem disease is quite an enigmatic entity. Here is a case of a 65-year-old man presenting with features of heart failure with reduced ejection fraction who on extensive workup and imaging was found to have cardiac amyloidosis of ATTR hereditary variety despite a negative family history. This sporadic case of hereditary transthyretin amyloidosis affecting only the heart was put through profound genetic workup and eventually treated with newer but expensive drugs in the hopes to achieve clinical remission.

Keywords

• cardiac amyloidosis
• genetics
• heart failure
• imaging modalities
• infiltrative cardiomyopathy