P007. Genotypic and Phenotypic Differences and Similarities Among Patients With Transthyretin Amyloidosis or Other Inherited Cardiovascular Diseases: Insights From a Genetic Testing Program

Hereditary transthyretin amyloidosis (hATTR or ATTRv [variant]) is a progressive, and fatal disease caused by mutations in the transthyretin (TTR) gene. These mutations destabilize protein folding, resulting in amyloid deposits and causing multisystem dysfunction such as cardiomyopathy, whose etiology may be attributed to traditional causes of cardiovascular diseases. Genetic testing was recently added to the diagnostic armamentarium for ATTR with cardiomyopathy. Heart failure nurses, whether registered nurses or advanced practice nurses, can have a pivotal role in appropriately diagnosing hATTR as the underlying cause of heart failure.
Source: Heart and Lung - Category: Intensive Care Authors: Tags: Research Source Type: research