Counseling Family Members and Monitoring for Evidence of Disease in Asymptomatic Carriers of Amyloid Transthyretin Cardiac Amyloidosis.

Abstract excerpt

Transthyretin (TTR), a plasma transport protein produced in the liver, is prone to misfolding, leading to the deposition of amyloid fibrils and progressive dysfunction of cardiac and nervous system tissues, a condition known as amyloid TTR (ATTR) amyloidosis. More than 140 different pathogenic variants in TTR have been documented, most of which cause hereditary forms of ATTR amyloidosis. The most common...

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