V122I TTR Cardiac Amyloidosis in Patients of African Descent

Cardiac amyloidosis is caused by the aggregation and deposition of misfolded proteins in the extracellular space of the myocardium. The heart is one of multiple organs that may be involved in systemic amyloidosis and is usually the main cause of significant morbidity and mortality. Transthyretin amyloidosis (ATTR), one of the most common forms of cardiac amyloidosis, is increasingly recognized as an important cause of heart failure with preserved ejection fraction. It is generally believed that for heart failure to occur, the severity of amyloid deposition in a diseased heart has to be great enough to cause abnormal wall thickening, which is easily identifiable by echocardiography.