A case of fatal familial edema

Abstract

Cardiac amyloidosis is an often-underdiagnosed cause of heart failure, and associated morbidity and mortality. AL (Primary amyloidosis) and ATTR (Amyloidosis, hereditary, transthyretin-related) variants most commonly affect the heart amongst the amyloidosis variants, and prompt diagnosis and variant delineation is paramount to initiation of appropriate treatment. Clinical suspicion with appropriate diagnostic tests guide towards accurate diagnosis. ATTR variant can either be sporadic or hereditary, differentiated based on genetic tests in family. Most documented cases of hereditary amyloidosis have presented with polyneuropathy, whereas we report the first case of genetically confirmed Cardiac amyloidosis in the Indian subcontinent with a pathogenic mutation.