Amyloid may be deposited in the heart, eventually impairing function and resulting in heart failure.
Patient selection: presence of amyloid in a biopsy
The type can be determined by performing mass spectrometry on the biopsy:
(1) amyloid light chain (AL)
(2) transthyretin
If transthyretin is present then gene sequencing is performed to determine the subtype:
(2) transthyretin, wild type (ATTRwt)
(3) transthyretin, hereditary (ATTRm) with autosomal-dominance
Manifestations of AL cardiac amyloidosis:
(1) heart failure
(2) hepatomegaly
(3) peripheral and autonomic neuropathy
(4) nephrotic syndrome
(5) periorbital purpura
Manifestations of hereditary transthyretin amyloidosis:
(1) heart failure
(2) peripheral and autonomic neuropathy
Manifestations of wild-type transthyretin amyloidosis:
(1) hear failure
(2) carpal tunnel syndrome
(3) biceps tendon rupture
(4) spinal stenosis
(5) atrial fibrillation
