hATTR With What Is

Hereditary (hATTR) amyloidosis with cardiomyopathy is an autosomal dominant disorder caused by variants in the transthyretin (TTR) gene. TTR is a plasma protein that is primarily produced by the liver and normally transports thyroxine (T4) and retinol-binding protein (RBP) in the blood. The disease mechanism involves the misfolding and aggregation of variant TTR proteins into amyloid fibrils, which are deposited extracellularly in various tissues, including the heart, nerves, and gastrointestinal tract. In hATTR with cardiomyopathy, the amyloid deposition primarily affects the heart, causing progressive cardiac dysfunction and heart failure.